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NAPG NSF attachment protein gamma [ Homo sapiens (human) ]

Gene ID: 8774, updated on 7-Apr-2024

Summary

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Official Symbol
NAPGprovided by HGNC
Official Full Name
NSF attachment protein gammaprovided by HGNC
Primary source
HGNC:HGNC:7642
See related
Ensembl:ENSG00000134265 MIM:603216; AllianceGenome:HGNC:7642
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
GAMMASNAP
Summary
This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008]
Expression
Ubiquitous expression in brain (RPKM 18.0), thyroid (RPKM 9.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
18p11.22
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (10526027..10552764)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (10688174..10714911)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (10526024..10552761)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:10405588-10406374 Neighboring gene uncharacterized LOC105371988 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:10406375-10407161 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:10413718-10414917 Neighboring gene long intergenic non-protein coding RNA 1254 Neighboring gene APC down-regulated 1 Neighboring gene Sharpr-MPRA regulatory region 1128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13082 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:10485921-10486120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:10560411-10560913 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:10577856-10578437 Neighboring gene uncharacterized LOC124904248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:10608981-10609482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:10609483-10609982 Neighboring gene long intergenic non-protein coding RNA 1887 Neighboring gene MIX23 pseudogene 1

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
  • 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. NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China. Xu Y, et al. BMC Pulm Med, 2021 Jun 10. PMID 34112136, Free PMC Article
  2. NAPG may not be a common risk gene shared by bipolar disorder and schizophrenia in Chinese population. Li XW, et al. Psychiatr Genet, 2012 Apr. PMID 22113424
  3. Association study on the NAPG gene and bipolar disorder in the Chinese Han population. Li X, et al. Neurosci Lett, 2009 Jul 3. PMID 19429185
  4. Analysis of variations in the NAPG gene on chromosome 18p11 in bipolar disorder. Weller AE, et al. Psychiatr Genet, 2006 Feb. PMID 16395123
  5. Association of N-ethylmaleimide sensitive fusion (NSF) protein and soluble NSF attachment proteins-alpha and -gamma with glucose transporter-4-containing vesicles in primary rat adipocytes. Mastick CC, et al. Endocrinology, 1997 Jun. PMID 9165027

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China.
    Title: NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China.
  2. study did not support NAPG as a susceptible gene for schizophrenia in the Chinese Han population
    Title: NAPG may not be a common risk gene shared by bipolar disorder and schizophrenia in Chinese population.
  3. Our study supports NAPG as a candidate for susceptibility to bipolar disorder as several combinations of haplotype were found to be associated with bipolar disorder.
    Title: Association study on the NAPG gene and bipolar disorder in the Chinese Han population.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association study on the NAPG gene and bipolar disorder in the Chinese Han population.
  5. The functional domains of this protein are mapped.
    Title: Mapping of functional domains of gamma-SNAP.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables soluble NSF attachment protein activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in intra-Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in membrane fusion TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein stabilization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein-containing complex assembly NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
part_of SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
located_in lysosomal membrane HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
gamma-soluble NSF attachment protein
Names
N-ethylmaleimide-sensitive factor attachment protein, gamma
SNAP-gamma
soluble NSF attachment protein

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.

mRNA and Protein(s)

  1. NM_003826.3 → NP_003817.1  gamma-soluble NSF attachment protein

    See identical proteins and their annotated locations for NP_003817.1

    Status: REVIEWED

    Source sequence(s)
    AK023725, AK126942, AK314495, BC001889, CA312045, CK005676, DA296597
    Consensus CDS
    CCDS45827.1
    UniProtKB/Swiss-Prot
    B4DFC9, Q99747, Q9BUV1
    UniProtKB/TrEMBL
    Q6FHY4
    Related
    ENSP00000324628.6, ENST00000322897.11
    Conserved Domains (1) summary
    cd15832
    Location:8 → 278
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

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

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    10526027..10552764
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525754.3 → XP_011524056.1  gamma-soluble NSF attachment protein isoform X1

    Conserved Domains (1) summary
    cd15832
    Location:71 → 338
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

  2. XM_011525756.3 → XP_011524058.1  gamma-soluble NSF attachment protein isoform X2

    See identical proteins and their annotated locations for XP_011524058.1

    UniProtKB/Swiss-Prot
    Q99747
    Conserved Domains (2) summary
    cd15832
    Location:29 → 64
    SNAP; TPR repeat [structural motif]
    cl24038
    Location:1 → 196
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

  3. XM_017026063.3 → XP_016881552.1  gamma-soluble NSF attachment protein isoform X3

    Related
    ENST00000583367.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    10688174..10714911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319310.1 → XP_054175285.1  gamma-soluble NSF attachment protein isoform X1

  2. XM_054319311.1 → XP_054175286.1  gamma-soluble NSF attachment protein isoform X2

  3. XM_054319312.1 → XP_054175287.1  gamma-soluble NSF attachment protein isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99747.1 GenPept UniProtKB/Swiss-Prot:Q99747

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