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

    Gene ID: 8774, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See NAPG in Genome Data Viewer
    Location:
    18p11.22
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (10526027..10552764)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (10688174..10714911)
    RS_2024_09 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 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. 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
    2. 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
    3. Analysis of variations in the NAPG gene on chromosome 18p11 in bipolar disorder. Weller AE, et al. Psychiatr Genet, 2006 Feb. PMID 16395123
    4. 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
    5. 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

    See all (52) 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_2024_08

    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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