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NXPE3 neurexophilin and PC-esterase domain family member 3 [ Homo sapiens (human) ]

Gene ID: 91775, updated on 28-Oct-2024

Summary

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Official Symbol
NXPE3provided by HGNC
Official Full Name
neurexophilin and PC-esterase domain family member 3provided by HGNC
Primary source
HGNC:HGNC:28238
See related
Ensembl:ENSG00000144815 AllianceGenome:HGNC:28238
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
FAM55C; MST115; MSTP115
Summary
This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Expression
Ubiquitous expression in brain (RPKM 6.4), lymph node (RPKM 5.0) and 24 other tissues See more
Orthologs
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Genomic context

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See NXPE3 in Genome Data Viewer
Location:
3q12.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (101779211..101828231)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (104492001..104541024)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (101498055..101547075)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20178 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:101444325-101444936 Neighboring gene PDCL3 pseudogene 4 Neighboring gene centrosomal protein 97 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20179 Neighboring gene Sharpr-MPRA regulatory region 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20184 Neighboring gene Sharpr-MPRA regulatory region 1067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20185 Neighboring gene Sharpr-MPRA regulatory region 7874 Neighboring gene NFKB inhibitor zeta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20186 Neighboring gene MPRA-validated peak4754 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20187 Neighboring gene RIG-I dependent antiviral response regulator RNA Neighboring gene uncharacterized LOC101929411

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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Related articles in PubMed

  1. Genome-wide DNA methylation analysis in hepatocellular carcinoma. Yamada N, et al. Oncol Rep, 2016 Apr. PMID 26883180
  2. Neurexophilins form a conserved family of neuropeptide-like glycoproteins. Missler M, et al. J Neurosci, 1998 May 15. PMID 9570794, Free PMC Article
  3. Structure and evolution of neurexophilin. Petrenko AG, et al. J Neurosci, 1996 Jul 15. PMID 8699246, Free PMC Article
  4. Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit. Missler M, et al. J Biol Chem, 1998 Dec 25. PMID 9856994
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30102, MGC15606

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
NXPE family member 3
Names
family with sequence similarity 55, member C

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_053180.2 RefSeqGene

    Range
    5027..54047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134456.2 → NP_001127928.1  NXPE family member 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001127928.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1-8 encode the same isoform (1).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS2945.1
    UniProtKB/Swiss-Prot
    A8K0X4, D3DN53, Q7Z2S8, Q969Y0
    UniProtKB/TrEMBL
    A0A994J553
    Related
    ENSP00000417485.1, ENST00000491511.6
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  2. NM_001348990.2 → NP_001335919.1  NXPE family member 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS2945.1
    UniProtKB/Swiss-Prot
    A8K0X4, D3DN53, Q7Z2S8, Q969Y0
    UniProtKB/TrEMBL
    A0A994J553
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  3. NM_001348991.2 → NP_001335920.1  NXPE family member 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS2945.1
    UniProtKB/Swiss-Prot
    A8K0X4, D3DN53, Q7Z2S8, Q969Y0
    UniProtKB/TrEMBL
    A0A994J553
    Related
    ENSP00000515931.1, ENST00000487830.2
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  4. NM_001348992.2 → NP_001335921.1  NXPE family member 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS2945.1
    UniProtKB/Swiss-Prot
    A8K0X4, D3DN53, Q7Z2S8, Q969Y0
    UniProtKB/TrEMBL
    A0A994J553
    Related
    ENSP00000515920.1, ENST00000704532.1
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  5. NM_001348993.2 → NP_001335922.1  NXPE family member 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS2945.1
    UniProtKB/Swiss-Prot
    A8K0X4, D3DN53, Q7Z2S8, Q969Y0
    UniProtKB/TrEMBL
    A0A994J553
    Related
    ENSP00000418381.2, ENST00000495842.6
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  6. NM_001348994.2 → NP_001335923.1  NXPE family member 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS2945.1
    UniProtKB/Swiss-Prot
    A8K0X4, D3DN53, Q7Z2S8, Q969Y0
    UniProtKB/TrEMBL
    A0A994J553
    Related
    ENSP00000515927.1, ENST00000704539.1
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  7. NM_001348995.2 → NP_001335924.1  NXPE family member 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS2945.1
    UniProtKB/Swiss-Prot
    A8K0X4, D3DN53, Q7Z2S8, Q969Y0
    UniProtKB/TrEMBL
    A0A994J553
    Related
    ENSP00000515919.1, ENST00000704530.1
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  8. NM_001348996.2 → NP_001335925.1  NXPE family member 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 9-11 encode the same isoform (2).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS93338.1
    UniProtKB/TrEMBL
    A0A994J553, A0A994J739
    Related
    ENSP00000515936.1, ENST00000704548.1
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  9. NM_001348997.2 → NP_001335926.1  NXPE family member 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 9-11 encode the same isoform (2).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS93338.1
    UniProtKB/TrEMBL
    A0A994J553, A0A994J739
    Related
    ENSP00000515917.1, ENST00000704528.1
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  10. NM_001348998.2 → NP_001335927.1  NXPE family member 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 9-11 encode the same isoform (2).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS93338.1
    UniProtKB/TrEMBL
    A0A994J553, A0A994J739
    Related
    ENSP00000515937.1, ENST00000704549.1
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

  11. NM_145037.4 → NP_659474.1  NXPE family member 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_659474.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
    Source sequence(s)
    AC020651, AC084198
    Consensus CDS
    CCDS2945.1
    UniProtKB/Swiss-Prot
    A8K0X4, D3DN53, Q7Z2S8, Q969Y0
    UniProtKB/TrEMBL
    A0A994J553
    Related
    ENSP00000273347.5, ENST00000273347.10
    Conserved Domains (1) summary
    pfam06312
    Location:75 → 284
    Neurexophilin

RNA

  1. NR_145993.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) uses an alternate 5' exon structure and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020651, AC084198

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    101779211..101828231
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    104492001..104541024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q969Y0.1 GenPept UniProtKB/Swiss-Prot:Q969Y0

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