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    NFASC neurofascin [ Homo sapiens (human) ]

    Gene ID: 23114, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NFASCprovided by HGNC
    Official Full Name
    neurofascinprovided by HGNC
    Primary source
    HGNC:HGNC:29866
    See related
    Ensembl:ENSG00000163531 MIM:609145; AllianceGenome:HGNC:29866
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NF; NRCAML; NEDCPMD
    Summary
    This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Broad expression in brain (RPKM 17.7), kidney (RPKM 6.6) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NFASC in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (204828652..205022822)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204093027..204287188)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (204797780..204991950)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204678087-204679056 Neighboring gene uncharacterized LOC105371693 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204679057-204680026 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204680027-204680996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204680997-204681964 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:204683914-204684551 Neighboring gene uncharacterized LOC105371695 Neighboring gene uncharacterized LOC105371694 Neighboring gene uncharacterized LOC124900453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1730 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204721386-204721927 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204891185-204891885 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204892586-204893286 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204893287-204893986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1731 Neighboring gene ribosomal protein L13a pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204981530-204982083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204983191-204983742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204987113-204987910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204987911-204988706 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:204994888-204995728 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 1:205012106 and 1:205012198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205016337-205016841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205023369-205024096 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:205041546-205042745 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 1:205044354 and 1:205044416 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205044866 Neighboring gene contactin 2 Neighboring gene transmembrane protein 81

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.
      Title: Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.
    2. The results link biallelic variants in NFASC isoforms at glial cells to defects in the paranodal axoglial junctions and phenotypes that range from variable neurodevelopmental impairment to weakness, central hypomyelination, and peripheral chronic demyelinating neuropathy.
      Title: Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
    3. we describe two affected siblings from a consanguineous Italian family presenting with infantile-onset ataxia and mild demyelinating polyneuropathy who carry a homozygous NFASC missense mutation.
      Title: Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
    4. A novel homozygous NFASC mutation chr1:204953187-C>T (rs755160624) is described. The variant creates a premature stop codon in 3 out of four NFASC human transcripts and is predicted to specifically eliminate Nfasc155 leaving neuronal Neurofascin intact. The selective absence of Nfasc155 and disruption of the paranodal junction was confirmed in patient.
      Title: Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
    5. data suggest that NFASC is a novel regulator of non-small cell lung cancer cell motility and support a role of NFASC in the regulation of non-small cell lung cancer progression
      Title: Copy number variation, increased gene expression, and molecular mechanisms of neurofascin in lung cancer.
    6. identified neurofascin as the target of the autoantibodies in Chronic inflammatory demyelination polyneuropathy patients.
      Title: Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.
    7. -NF155 IgG4 antibodies were associated with a subgroup of patients with CIDP showing a younger age at onset, ataxia, tremor, CNS demyelination, and a poor response to IV immunoglobulin.
      Title: Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy.
    8. It is a common protein to the central and peripheral nervous system may play a pivotal role in combined demyelination in Combined central and peripheral demyelination.
      Title: [Neurofascin: a novel target for combined central and peripheral demyelination].
    9. Autoantibodies to NF155 identify a inflammatory demyelinating polyradiculoneuropathy subtype characterized by severe neuropathy, poor response to intravenous immunoglobulin, and disabling tremor.
      Title: Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.
    10. Anti-neurofascin antibody is frequently present in patients with CCPD.
      Title: Anti-neurofascin antibody in patients with combined central and peripheral demyelination.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with central and peripheral motor dysfunction
    MedGen: C5193049 OMIM: 618356 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    GWAS of dental caries patterns in the permanent dentition.
    EBI GWAS Catalog
    NCK2 is significantly associated with opiates addiction in African-origin men.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46866, KIAA0756, DKFZp686P2250

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in peripheral nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axon initial segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in focal adhesion HDA PubMed 
    located_in node of Ranvier ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in node of Ranvier TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in paranodal junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    neurofascin
    Names
    neurofascin homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029938.1 RefSeqGene

      Range
      4999..199169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005388.3 → NP_001005388.2  neurofascin isoform 1 precursor

      See identical proteins and their annotated locations for NP_001005388.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. This isoform lacks the third fibronectin type 3 (FNIII) repeat and includes the mucin-like domain. Isoform 1 is also known as NF186, as described by Davis et al. (PMID: 8947556).
      Source sequence(s)
      AC096675, AL391822
      Consensus CDS
      CCDS53460.1
      UniProtKB/TrEMBL
      H7BY57
      Related
      ENSP00000344786.6, ENST00000339876.11
      Conserved Domains (8) summary
      cd05875
      Location:59 → 135
      Ig_hNeurofascin_like; Immunoglobulin (Ig)-like domain of human neurofascin (NF)
      cd00063
      Location:628 → 718
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:1014 → 1086
      fn3; Fibronectin type III domain
      pfam13882
      Location:1132 → 1216
      Bravo_FIGEY; Bravo-like intracellular region
      cd00096
      Location:449 → 515
      Ig; Immunoglobulin domain
      cd05731
      Location:264 → 334
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cl11960
      Location:140 → 232
      Ig; Immunoglobulin domain
      cl28434
      Location:528 → 609
      I-set; Immunoglobulin I-set domain

    2. NM_001005389.2 → NP_001005389.2  neurofascin isoform 5 precursor

      See identical proteins and their annotated locations for NP_001005389.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (5) has a substantially shorter and distinct C-terminus that lacks the fibronectin domains, compared to isoform 1.
      Source sequence(s)
      AA514945, AC096675, AK090639, BC040674
      Consensus CDS
      CCDS53461.1
      UniProtKB/TrEMBL
      B3KUR8
      Related
      ENSP00000384875.1, ENST00000403080.5
      Conserved Domains (6) summary
      cd05731
      Location:264 → 334
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:59 → 135
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:449 → 508
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:254 → 333
      IG_like; Immunoglobulin like
      pfam07679
      Location:528 → 609
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:140 → 232
      Ig; Immunoglobulin domain

    3. NM_001160331.2 → NP_001153803.1  neurofascin isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The promoter and 5' UTR for this variant have not been determined. The resulting isoform (2) includes the third fibronectin type 3 (FNIII) repeat, lacks the mucin-like domain, and has several differences near the N-terminus, compared to isoform 1. Isoform 2 is also known as NF155, as described by Davis et al. (PMID: 8947556).
      Source sequence(s)
      AC096675, AL391822
      Consensus CDS
      CCDS91149.1
      UniProtKB/TrEMBL
      X6RKN2
      Related
      ENSP00000438614.2, ENST00000539706.6
      Conserved Domains (8) summary
      cd05731
      Location:275 → 345
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:53 → 129
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:460 → 519
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:265 → 344
      IG_like; Immunoglobulin like
      cd00063
      Location:639 → 729
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:539 → 620
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:1081 → 1165
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:134 → 226
      Ig; Immunoglobulin domain

    4. NM_001160332.2 → NP_001153804.1  neurofascin isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (3) includes the third fibronectin type 3 (FNIII) repeat, lacks the mucin-like domain, and has several differences in the N-terminal and central regions, compared to isoform 1.
      Source sequence(s)
      AC096675, AL391822
      Consensus CDS
      CCDS53462.1
      UniProtKB/TrEMBL
      X6RKN2
      Related
      ENSP00000415031.3, ENST00000430393.7
      Conserved Domains (8) summary
      cd05731
      Location:275 → 345
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:53 → 129
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:460 → 519
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:265 → 344
      IG_like; Immunoglobulin like
      cd00063
      Location:624 → 714
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:539 → 620
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:1066 → 1150
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:134 → 226
      Ig; Immunoglobulin domain

    5. NM_001160333.2 → NP_001153805.1  neurofascin isoform 6 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks the second coding exon and uses an alternate 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (5) lacks an internal domain and has a substantially shorter and distinct C-terminus that lacks the fibronectin domains, compared to isoform 1.
      Source sequence(s)
      AA514945, AC096675, AK090639, AK299262, BC040674
      UniProtKB/TrEMBL
      B3KUR8
      Conserved Domains (6) summary
      cd05731
      Location:258 → 328
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:53 → 129
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:443 → 502
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:248 → 327
      IG_like; Immunoglobulin like
      pfam07679
      Location:522 → 603
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:134 → 226
      Ig; Immunoglobulin domain

    6. NM_001365986.1 → NP_001352915.1  neurofascin isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC096675, AL391822
      UniProtKB/TrEMBL
      H7BY57
      Conserved Domains (7) summary
      cd05875
      Location:53 → 129
      Ig_hNeurofascin_like; Immunoglobulin (Ig)-like domain of human neurofascin (NF)
      cd00063
      Location:624 → 714
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:539 → 620
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:954 → 1038
      Bravo_FIGEY; Bravo-like intracellular region
      cd00096
      Location:460 → 526
      Ig; Immunoglobulin domain
      cd05731
      Location:275 → 345
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cl11960
      Location:134 → 226
      Ig; Immunoglobulin domain

    7. NM_001378329.1 → NP_001365258.1  neurofascin isoform 8 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents the longest transcript and encodes the longest isoform (8).
      Source sequence(s)
      AC096675, AL391822
      UniProtKB/Swiss-Prot
      B2RNN8, B3KQZ1, B5MDP6, B5MDR6, B7ZMD8, O94856, Q149P5, Q5T2F0, Q5T2F1, Q5T2F2, Q5T2F3, Q5T2F4, Q5T2F5, Q5T2F6, Q5T2F7, Q5T2F9, Q5T2G0, Q5W9F8, Q68DH3, Q6ZQV6, Q7Z3K1, Q96HT1, Q96K50
      UniProtKB/TrEMBL
      X6RKN2

    8. NM_001378330.1 → NP_001365259.1  neurofascin isoform 9 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variant 10, encodes isoform 9.
      Source sequence(s)
      AC096675, AL391822
      Consensus CDS
      CCDS91150.1
      UniProtKB/TrEMBL
      A0A7P0Z4R6, B3KUR8
      Related
      ENSP00000506661.1, ENST00000680427.1
      Conserved Domains (6) summary
      pfam07679
      Location:539 → 620
      I-set; Immunoglobulin I-set domain
      cd00096
      Location:365 → 369
      Ig; Ig strand B [structural motif]
      cd05731
      Location:263 → 345
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM), and similar domains
      cd05845
      Location:138 → 228
      IgI_2_L1-CAM_like; Second immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM), and similar domains; member of the I-set of Ig superfamily (IgSF) domains
      cd05875
      Location:35 → 129
      IgI_hNeurofascin_like; Immunoglobulin (Ig)-like domain of human neurofascin (NF); member of the I-set of Ig superfamily (IgSF) domains
      cl11960
      Location:349 → 437
      Ig; Immunoglobulin domain

    9. NM_001378331.1 → NP_001365260.1  neurofascin isoform 9 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variant 9, encodes isoform 9.
      Source sequence(s)
      AC096675, AL391822
      Consensus CDS
      CCDS91150.1
      UniProtKB/TrEMBL
      A0A7P0Z4R6, B3KUR8
      Conserved Domains (6) summary
      pfam07679
      Location:539 → 620
      I-set; Immunoglobulin I-set domain
      cd00096
      Location:365 → 369
      Ig; Ig strand B [structural motif]
      cd05731
      Location:263 → 345
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM), and similar domains
      cd05845
      Location:138 → 228
      IgI_2_L1-CAM_like; Second immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM), and similar domains; member of the I-set of Ig superfamily (IgSF) domains
      cd05875
      Location:35 → 129
      IgI_hNeurofascin_like; Immunoglobulin (Ig)-like domain of human neurofascin (NF); member of the I-set of Ig superfamily (IgSF) domains
      cl11960
      Location:349 → 437
      Ig; Immunoglobulin domain

    10. NM_015090.4 → NP_055905.2  neurofascin isoform 4 precursor

      See identical proteins and their annotated locations for NP_055905.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (4) includes the third fibronectin type 3 (FNIII) repeat, lacks the mucin-like domain, and has several differences in the N-terminal and central regions, compared to isoform 1.
      Source sequence(s)
      AC096675, AL391822
      Consensus CDS
      CCDS30982.1
      UniProtKB/TrEMBL
      X6RKN2
      Related
      ENSP00000425908.1, ENST00000513543.6
      Conserved Domains (8) summary
      cd05731
      Location:275 → 345
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:53 → 129
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:460 → 519
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:265 → 344
      IG_like; Immunoglobulin like
      cd00063
      Location:624 → 714
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:539 → 620
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:1061 → 1145
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:134 → 226
      Ig; Immunoglobulin domain

    RNA

    1. NR_165492.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC096675, AL391822

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      204828652..205022822
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509316.2 → XP_011507618.2  neurofascin isoform X9

    2. XM_047449964.1 → XP_047305920.1  neurofascin isoform X24

    3. XM_047449979.1 → XP_047305935.1  neurofascin isoform X29

    4. XM_047449982.1 → XP_047305938.1  neurofascin isoform X33

    5. XM_047450000.1 → XP_047305956.1  neurofascin isoform X38

    6. XM_011509318.2 → XP_011507620.1  neurofascin isoform X10

      Conserved Domains (9) summary
      cd05731
      Location:377 → 447
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:155 → 231
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:562 → 621
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:367 → 446
      IG_like; Immunoglobulin like
      cd00063
      Location:741 → 831
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:641 → 722
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:1235 → 1306
      fn3; Fibronectin type III domain
      pfam13882
      Location:1352 → 1436
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:236 → 328
      Ig; Immunoglobulin domain

    7. XM_047449996.1 → XP_047305952.1  neurofascin isoform X37

    8. XM_011509320.2 → XP_011507622.1  neurofascin isoform X11

      Conserved Domains (9) summary
      cd05731
      Location:360 → 430
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:155 → 231
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:545 → 604
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:350 → 429
      IG_like; Immunoglobulin like
      cd00063
      Location:724 → 814
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:624 → 705
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:1218 → 1289
      fn3; Fibronectin type III domain
      pfam13882
      Location:1335 → 1419
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:236 → 328
      Ig; Immunoglobulin domain

    9. XM_047449967.1 → XP_047305923.1  neurofascin isoform X25

    10. XM_047450001.1 → XP_047305957.1  neurofascin isoform X39

    11. XM_047450009.1 → XP_047305965.1  neurofascin isoform X40

    12. XM_047449948.1 → XP_047305904.1  neurofascin isoform X18

    13. XM_047449955.1 → XP_047305911.1  neurofascin isoform X19

      UniProtKB/Swiss-Prot
      B2RNN8, B3KQZ1, B5MDP6, B5MDR6, B7ZMD8, O94856, Q149P5, Q5T2F0, Q5T2F1, Q5T2F2, Q5T2F3, Q5T2F4, Q5T2F5, Q5T2F6, Q5T2F7, Q5T2F9, Q5T2G0, Q5W9F8, Q68DH3, Q6ZQV6, Q7Z3K1, Q96HT1, Q96K50

    14. XM_024454300.2 → XP_024310068.1  neurofascin isoform X30

      UniProtKB/TrEMBL
      H7BY57
      Conserved Domains (8) summary
      cd05875
      Location:59 → 135
      Ig_hNeurofascin_like; Immunoglobulin (Ig)-like domain of human neurofascin (NF)
      cd00063
      Location:628 → 718
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:1014 → 1086
      fn3; Fibronectin type III domain
      pfam13882
      Location:1132 → 1216
      Bravo_FIGEY; Bravo-like intracellular region
      cd00096
      Location:449 → 515
      Ig; Immunoglobulin domain
      cd05731
      Location:264 → 334
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cl11960
      Location:140 → 232
      Ig; Immunoglobulin domain
      cl28434
      Location:528 → 609
      I-set; Immunoglobulin I-set domain

    15. XM_047450017.1 → XP_047305973.1  neurofascin isoform X41

      UniProtKB/TrEMBL
      A0A386QWI1
      Related
      ENSP00000356141.3, ENST00000367173.7

    16. XM_047449961.1 → XP_047305917.1  neurofascin isoform X21

    17. XM_047450027.1 → XP_047305983.1  neurofascin isoform X42

    18. XM_047449947.1 → XP_047305903.1  neurofascin isoform X18

    19. XM_011509322.3 → XP_011507624.3  neurofascin isoform X13

    20. XM_011509321.3 → XP_011507623.3  neurofascin isoform X12

    21. XM_024454297.2 → XP_024310065.2  neurofascin isoform X20

    22. XM_011509311.3 → XP_011507613.3  neurofascin isoform X1

    23. XM_011509325.3 → XP_011507627.3  neurofascin isoform X22

    24. XM_011509323.3 → XP_011507625.3  neurofascin isoform X14

    25. XM_011509326.3 → XP_011507628.3  neurofascin isoform X31

    26. XM_047449933.1 → XP_047305889.1  neurofascin isoform X15

    27. XM_011509327.3 → XP_011507629.3  neurofascin isoform X32

    28. XM_024454285.2 → XP_024310053.2  neurofascin isoform X3

    29. XM_024454288.2 → XP_024310056.2  neurofascin isoform X4

    30. XM_024454296.2 → XP_024310064.2  neurofascin isoform X16

    31. XM_011509328.3 → XP_011507630.3  neurofascin isoform X43

    32. XM_047449989.1 → XP_047305945.1  neurofascin isoform X34

    33. XM_024454292.2 → XP_024310060.2  neurofascin isoform X7

    34. XM_047449946.1 → XP_047305902.1  neurofascin isoform X17

    35. XM_011509312.1 → XP_011507614.1  neurofascin isoform X2

      UniProtKB/TrEMBL
      X6RKN2
      Conserved Domains (9) summary
      cd05731
      Location:352 → 422
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:130 → 206
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:537 → 596
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:342 → 421
      IG_like; Immunoglobulin like
      cd00063
      Location:716 → 806
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:616 → 697
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:1210 → 1281
      fn3; Fibronectin type III domain
      pfam13882
      Location:1327 → 1411
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:211 → 303
      Ig; Immunoglobulin domain

    36. XM_005244989.3 → XP_005245046.2  neurofascin isoform X23

      UniProtKB/TrEMBL
      X6RKN2
      Conserved Domains (8) summary
      cd05731
      Location:352 → 422
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:130 → 206
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:537 → 596
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:342 → 421
      IG_like; Immunoglobulin like
      cd00063
      Location:716 → 806
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:616 → 697
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:1158 → 1242
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:211 → 303
      Ig; Immunoglobulin domain

    37. XM_017000733.1 → XP_016856222.1  neurofascin isoform X5

      UniProtKB/TrEMBL
      X6RKN2

    38. XM_005244991.3 → XP_005245048.2  neurofascin isoform X26

      UniProtKB/TrEMBL
      X6RKN2
      Conserved Domains (8) summary
      cd05731
      Location:352 → 422
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:130 → 206
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:537 → 596
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:342 → 421
      IG_like; Immunoglobulin like
      cd00063
      Location:701 → 791
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:616 → 697
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:1143 → 1227
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:211 → 303
      Ig; Immunoglobulin domain

    39. XM_005244992.5 → XP_005245049.2  neurofascin isoform X27

      UniProtKB/TrEMBL
      X6RKN2
      Conserved Domains (8) summary
      cd05731
      Location:352 → 422
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:130 → 206
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:537 → 596
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:342 → 421
      IG_like; Immunoglobulin like
      cd00063
      Location:701 → 791
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:616 → 697
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:1138 → 1222
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:211 → 303
      Ig; Immunoglobulin domain

    40. XM_047449990.1 → XP_047305946.1  neurofascin isoform X35

    41. XM_011509314.1 → XP_011507616.1  neurofascin isoform X6

      UniProtKB/TrEMBL
      X6RKN2
      Conserved Domains (9) summary
      cd05731
      Location:335 → 405
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:130 → 206
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:520 → 579
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:325 → 404
      IG_like; Immunoglobulin like
      cd00063
      Location:699 → 789
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:599 → 680
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:1193 → 1264
      fn3; Fibronectin type III domain
      pfam13882
      Location:1310 → 1394
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:211 → 303
      Ig; Immunoglobulin domain

    42. XM_047449991.1 → XP_047305947.1  neurofascin isoform X36

    43. XM_017000734.1 → XP_016856223.1  neurofascin isoform X8

      UniProtKB/TrEMBL
      X6RKN2

    44. XM_005244993.3 → XP_005245050.2  neurofascin isoform X28

      UniProtKB/TrEMBL
      X6RKN2
      Related
      ENSP00000385676.1, ENST00000404076.5
      Conserved Domains (8) summary
      cd05731
      Location:335 → 405
      Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
      cd05875
      Location:130 → 206
      Ig6_hNeurofascin_like; Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF)
      smart00408
      Location:520 → 579
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:325 → 404
      IG_like; Immunoglobulin like
      cd00063
      Location:684 → 774
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:599 → 680
      I-set; Immunoglobulin I-set domain
      pfam13882
      Location:1126 → 1210
      Bravo_FIGEY; Bravo-like intracellular region
      cl11960
      Location:211 → 303
      Ig; Immunoglobulin domain

    45. XM_047449950.1 → XP_047305906.1  neurofascin isoform X18

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      204093027..204287188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335283.1 → XP_054191258.1  neurofascin isoform X9

    2. XM_054335300.1 → XP_054191275.1  neurofascin isoform X24

    3. XM_054335305.1 → XP_054191280.1  neurofascin isoform X29

    4. XM_054335309.1 → XP_054191284.1  neurofascin isoform X33

    5. XM_054335314.1 → XP_054191289.1  neurofascin isoform X38

    6. XM_054335284.1 → XP_054191259.1  neurofascin isoform X10

    7. XM_054335313.1 → XP_054191288.1  neurofascin isoform X37

    8. XM_054335285.1 → XP_054191260.1  neurofascin isoform X11

    9. XM_054335301.1 → XP_054191276.1  neurofascin isoform X25

    10. XM_054335315.1 → XP_054191290.1  neurofascin isoform X39

    11. XM_054335316.1 → XP_054191291.1  neurofascin isoform X40

    12. XM_054335294.1 → XP_054191269.1  neurofascin isoform X18

    13. XM_054335295.1 → XP_054191270.1  neurofascin isoform X19

      UniProtKB/Swiss-Prot
      B2RNN8, B3KQZ1, B5MDP6, B5MDR6, B7ZMD8, O94856, Q149P5, Q5T2F0, Q5T2F1, Q5T2F2, Q5T2F3, Q5T2F4, Q5T2F5, Q5T2F6, Q5T2F7, Q5T2F9, Q5T2G0, Q5W9F8, Q68DH3, Q6ZQV6, Q7Z3K1, Q96HT1, Q96K50

    14. XM_054335306.1 → XP_054191281.1  neurofascin isoform X30

    15. XM_054335297.1 → XP_054191272.1  neurofascin isoform X21

    16. XM_054335317.1 → XP_054191292.1  neurofascin isoform X42

    17. XM_054335292.1 → XP_054191267.1  neurofascin isoform X18

    18. XM_054335274.1 → XP_054191249.1  neurofascin isoform X44

    19. XM_054335287.1 → XP_054191262.1  neurofascin isoform X13

    20. XM_054335286.1 → XP_054191261.1  neurofascin isoform X12

    21. XM_054335296.1 → XP_054191271.1  neurofascin isoform X20

    22. XM_054335275.1 → XP_054191250.1  neurofascin isoform X1

    23. XM_054335298.1 → XP_054191273.1  neurofascin isoform X22

    24. XM_054335288.1 → XP_054191263.1  neurofascin isoform X14

    25. XM_054335307.1 → XP_054191282.1  neurofascin isoform X31

    26. XM_054335289.1 → XP_054191264.1  neurofascin isoform X15

    27. XM_054335308.1 → XP_054191283.1  neurofascin isoform X32

    28. XM_054335277.1 → XP_054191252.1  neurofascin isoform X3

    29. XM_054335278.1 → XP_054191253.1  neurofascin isoform X4

    30. XM_054335290.1 → XP_054191265.1  neurofascin isoform X16

    31. XM_054335318.1 → XP_054191293.1  neurofascin isoform X43

    32. XM_054335310.1 → XP_054191285.1  neurofascin isoform X34

    33. XM_054335281.1 → XP_054191256.1  neurofascin isoform X7

    34. XM_054335291.1 → XP_054191266.1  neurofascin isoform X17

    35. XM_054335276.1 → XP_054191251.1  neurofascin isoform X2

    36. XM_054335299.1 → XP_054191274.1  neurofascin isoform X23

    37. XM_054335279.1 → XP_054191254.1  neurofascin isoform X5

    38. XM_054335302.1 → XP_054191277.1  neurofascin isoform X26

    39. XM_054335303.1 → XP_054191278.1  neurofascin isoform X27

    40. XM_054335311.1 → XP_054191286.1  neurofascin isoform X35

    41. XM_054335280.1 → XP_054191255.1  neurofascin isoform X6

    42. XM_054335312.1 → XP_054191287.1  neurofascin isoform X36

    43. XM_054335282.1 → XP_054191257.1  neurofascin isoform X8

    44. XM_054335304.1 → XP_054191279.1  neurofascin isoform X28

    45. XM_054335293.1 → XP_054191268.1  neurofascin isoform X18

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001005387.1: Suppressed sequence

      Description
      NM_001005387.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94856.4 GenPept UniProtKB/Swiss-Prot:O94856

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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