NFASC neurofascin [Homo sapiens (human)] - Gene

Summary

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

Location:: 1q32.1

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (204828652..205022822)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (204093027..204287188)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (204797780..204991950)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

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.
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.
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.
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.
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.
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.
-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.
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].
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
NCK2 is significantly associated with opiates addiction in African-origin men. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-84589 (e-PCR)
- UniSTS:102917

SHGC-76212 (e-PCR)
- UniSTS:32810

D8S2279 (e-PCR)
- UniSTS:473907

RH93142 (e-PCR)
- UniSTS:84310

SHGC-76179 (e-PCR)
- UniSTS:47450

SHGC-76204 (e-PCR)
- UniSTS:39264

RH99097 (e-PCR)
- UniSTS:90474

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-76205 (e-PCR)
- UniSTS:9844

D1S256 (e-PCR)
- UniSTS:147320

D1S2872 (e-PCR)
- UniSTS:54907

SHGC-82976 (e-PCR)
- UniSTS:101262

AFM217xc7 (e-PCR)
- UniSTS:61856

SHGC-76215 (e-PCR)
- UniSTS:64455

WI-20686 (e-PCR)
- UniSTS:65017

SHGC-76206 (e-PCR)
- UniSTS:69370

SHGC-30620 (e-PCR)
- UniSTS:40187

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 more info	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

NG_029938.1 RefSeqGene

Range

4999..199169

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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

NR_165492.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC096675, AL391822

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

204828652..205022822

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509316.2 → XP_011507618.2 neurofascin isoform X9
XM_047449964.1 → XP_047305920.1 neurofascin isoform X24
XM_047449979.1 → XP_047305935.1 neurofascin isoform X29
XM_047449982.1 → XP_047305938.1 neurofascin isoform X33
XM_047450000.1 → XP_047305956.1 neurofascin isoform X38
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
XM_047449996.1 → XP_047305952.1 neurofascin isoform X37
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
XM_047449967.1 → XP_047305923.1 neurofascin isoform X25
XM_047450001.1 → XP_047305957.1 neurofascin isoform X39
XM_047450009.1 → XP_047305965.1 neurofascin isoform X40
XM_047449948.1 → XP_047305904.1 neurofascin isoform X18
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
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
XM_047450017.1 → XP_047305973.1 neurofascin isoform X41

UniProtKB/TrEMBL

A0A386QWI1

Related

ENSP00000356141.3, ENST00000367173.7
XM_047449961.1 → XP_047305917.1 neurofascin isoform X21
XM_047450027.1 → XP_047305983.1 neurofascin isoform X42
XM_047449947.1 → XP_047305903.1 neurofascin isoform X18
XM_011509322.3 → XP_011507624.3 neurofascin isoform X13
XM_011509321.3 → XP_011507623.3 neurofascin isoform X12
XM_024454297.2 → XP_024310065.2 neurofascin isoform X20
XM_011509311.3 → XP_011507613.3 neurofascin isoform X1
XM_011509325.3 → XP_011507627.3 neurofascin isoform X22
XM_011509323.3 → XP_011507625.3 neurofascin isoform X14
XM_011509326.3 → XP_011507628.3 neurofascin isoform X31
XM_047449933.1 → XP_047305889.1 neurofascin isoform X15
XM_011509327.3 → XP_011507629.3 neurofascin isoform X32
XM_024454285.2 → XP_024310053.2 neurofascin isoform X3
XM_024454288.2 → XP_024310056.2 neurofascin isoform X4
XM_024454296.2 → XP_024310064.2 neurofascin isoform X16
XM_011509328.3 → XP_011507630.3 neurofascin isoform X43
XM_047449989.1 → XP_047305945.1 neurofascin isoform X34
XM_024454292.2 → XP_024310060.2 neurofascin isoform X7
XM_047449946.1 → XP_047305902.1 neurofascin isoform X17
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
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
XM_017000733.1 → XP_016856222.1 neurofascin isoform X5

UniProtKB/TrEMBL

X6RKN2
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
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
XM_047449990.1 → XP_047305946.1 neurofascin isoform X35
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
XM_047449991.1 → XP_047305947.1 neurofascin isoform X36
XM_017000734.1 → XP_016856223.1 neurofascin isoform X8

UniProtKB/TrEMBL

X6RKN2
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
XM_047449950.1 → XP_047305906.1 neurofascin isoform X18

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

204093027..204287188

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335283.1 → XP_054191258.1 neurofascin isoform X9
XM_054335300.1 → XP_054191275.1 neurofascin isoform X24
XM_054335305.1 → XP_054191280.1 neurofascin isoform X29
XM_054335309.1 → XP_054191284.1 neurofascin isoform X33
XM_054335314.1 → XP_054191289.1 neurofascin isoform X38
XM_054335284.1 → XP_054191259.1 neurofascin isoform X10
XM_054335313.1 → XP_054191288.1 neurofascin isoform X37
XM_054335285.1 → XP_054191260.1 neurofascin isoform X11
XM_054335301.1 → XP_054191276.1 neurofascin isoform X25
XM_054335315.1 → XP_054191290.1 neurofascin isoform X39
XM_054335316.1 → XP_054191291.1 neurofascin isoform X40
XM_054335294.1 → XP_054191269.1 neurofascin isoform X18
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
XM_054335306.1 → XP_054191281.1 neurofascin isoform X30
XM_054335297.1 → XP_054191272.1 neurofascin isoform X21
XM_054335317.1 → XP_054191292.1 neurofascin isoform X42
XM_054335292.1 → XP_054191267.1 neurofascin isoform X18
XM_054335274.1 → XP_054191249.1 neurofascin isoform X44
XM_054335287.1 → XP_054191262.1 neurofascin isoform X13
XM_054335286.1 → XP_054191261.1 neurofascin isoform X12
XM_054335296.1 → XP_054191271.1 neurofascin isoform X20
XM_054335275.1 → XP_054191250.1 neurofascin isoform X1
XM_054335298.1 → XP_054191273.1 neurofascin isoform X22
XM_054335288.1 → XP_054191263.1 neurofascin isoform X14
XM_054335307.1 → XP_054191282.1 neurofascin isoform X31
XM_054335289.1 → XP_054191264.1 neurofascin isoform X15
XM_054335308.1 → XP_054191283.1 neurofascin isoform X32
XM_054335277.1 → XP_054191252.1 neurofascin isoform X3
XM_054335278.1 → XP_054191253.1 neurofascin isoform X4
XM_054335290.1 → XP_054191265.1 neurofascin isoform X16
XM_054335318.1 → XP_054191293.1 neurofascin isoform X43
XM_054335310.1 → XP_054191285.1 neurofascin isoform X34
XM_054335281.1 → XP_054191256.1 neurofascin isoform X7
XM_054335291.1 → XP_054191266.1 neurofascin isoform X17
XM_054335276.1 → XP_054191251.1 neurofascin isoform X2
XM_054335299.1 → XP_054191274.1 neurofascin isoform X23
XM_054335279.1 → XP_054191254.1 neurofascin isoform X5
XM_054335302.1 → XP_054191277.1 neurofascin isoform X26
XM_054335303.1 → XP_054191278.1 neurofascin isoform X27
XM_054335311.1 → XP_054191286.1 neurofascin isoform X35
XM_054335280.1 → XP_054191255.1 neurofascin isoform X6
XM_054335312.1 → XP_054191287.1 neurofascin isoform X36
XM_054335282.1 → XP_054191257.1 neurofascin isoform X8
XM_054335304.1 → XP_054191279.1 neurofascin isoform X28
XM_054335293.1 → XP_054191268.1 neurofascin isoform X18

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001005387.1: Suppressed sequence

Description

NM_001005387.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.