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NAPA NSF attachment protein alpha [ Homo sapiens (human) ]

Gene ID: 8775, updated on 11-Apr-2024

Summary

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Official Symbol
NAPAprovided by HGNC
Official Full Name
NSF attachment protein alphaprovided by HGNC
Primary source
HGNC:HGNC:7641
See related
Ensembl:ENSG00000105402 MIM:603215; AllianceGenome:HGNC:7641
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
SNAPA
Summary
This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011]
Expression
Ubiquitous expression in prostate (RPKM 53.4), adrenal (RPKM 52.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.32-q13.33
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (47484530..47515063, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (50317289..50345867, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47990894..48018320, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47905847-47906546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47906547-47907244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47920878-47921870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47921871-47922864 Neighboring gene Meis homeobox 3 Neighboring gene hESC enhancers GRCh37_chr19:47931091-47931659 and GRCh37_chr19:47931660-47932227 Neighboring gene Sharpr-MPRA regulatory region 169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47939851-47940352 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47945299-47945446 Neighboring gene solute carrier family 8 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47949904-47950829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47971701-47972200 Neighboring gene Sharpr-MPRA regulatory region 3844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14866 Neighboring gene NAPA antisense RNA 1 Neighboring gene kaptin, actin binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48003933-48004487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14867 Neighboring gene Sharpr-MPRA regulatory region 13246 Neighboring gene zinc finger protein 541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14868 Neighboring gene RNA, 7SL, cytoplasmic 322, pseudogene

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. Loss of a membrane trafficking protein αSNAP induces non-canonical autophagy in human epithelia. Naydenov NG, et al. Cell Cycle, 2012 Dec 15. PMID 23187805, Free PMC Article
  2. A membrane fusion protein αSNAP is a novel regulator of epithelial apical junctions. Naydenov NG, et al. PLoS One, 2012. PMID 22485163, Free PMC Article
  3. BKV agnoprotein interacts with α-soluble N-ethylmaleimide-sensitive fusion attachment protein, and negatively influences transport of VSVG-EGFP. Johannessen M, et al. PLoS One, 2011. PMID 21931730, Free PMC Article
  4. alpha-SNAP and NSF are required in a priming step during the human sperm acrosome reaction. Tomes CN, et al. Mol Hum Reprod, 2005 Jan. PMID 15542541
  5. alpha-soluble N-ethylmaleimide-sensitive factor attachment protein is expressed in pancreatic beta cells and functions in insulin but not gamma-aminobutyric acid secretion. Nagamatsu S, et al. J Biol Chem, 1999 Mar 19. PMID 10075705

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High affinity associations with alpha-SNAP enable calcium entry via Orai1 channels.
    Title: High affinity associations with α-SNAP enable calcium entry via Orai1 channels.
  2. alphaSNAP is mainly expressed in the neuron brain tissue of patients with temporal lobe epilepsy. Its blood levels were significantly lower in these patients. alphaSNAP levels may increase epilepsy susceptibility.
    Title: Association of Alpha-Soluble NSF Attachment Protein with Epileptic Seizure.
  3. data implicates beta1 integrin, FAK, and paxillin in mediating the observed pro-adhesive effects of alphaSNAP. These results reveal novel roles for alphaSNAP in regulating ECM adhesion and motility of epithelial cells.
    Title: N-ethylmaleimide-sensitive factor attachment protein α (αSNAP) regulates matrix adhesion and integrin processing in human epithelial cells.
  4. Study revealed a novel role for alphaSNAP as a negative regulator of autophagy that acts by enhancing mTOR signaling and regulating the integrity of the Golgi complex.
    Title: Loss of a membrane trafficking protein αSNAP induces non-canonical autophagy in human epithelia.
  5. novel roles for alphaSNAP in promoting the formation of epithelial adherens junctions and tight junctions by controlling golgi-dependent expression and trafficking of junctional proteins.
    Title: A membrane fusion protein αSNAP is a novel regulator of epithelial apical junctions.
  6. The most N-terminal part of BKV agnoprotein is involved in the interaction with alpha-SNAP
    Title: BKV agnoprotein interacts with α-soluble N-ethylmaleimide-sensitive fusion attachment protein, and negatively influences transport of VSVG-EGFP.
  7. a novel role for alphaSNAP in promoting epithelial cell survival by unique mechanisms involving regulation of Bcl-2 expression and Golgi biogenesis
    Title: Loss of soluble N-ethylmaleimide-sensitive factor attachment protein α (αSNAP) induces epithelial cell apoptosis via down-regulation of Bcl-2 expression and disruption of the Golgi.
  8. Results suggest that the combinational SNARE proteins VAMP8 and Vti1b mediate the fusion of antimicrobial and canonical autophagosomes with lysosomes, an essential event for autophagic degradation.
    Title: Combinational soluble N-ethylmaleimide-sensitive factor attachment protein receptor proteins VAMP8 and Vti1b mediate fusion of antimicrobial and canonical autophagosomes with lysosomes.
  9. G alpha12 interaction with alphaSNAP induces VE-cadherin localization at endothelial junctions and regulates barrier function
    Title: G alpha12 interaction with alphaSNAP induces VE-cadherin localization at endothelial junctions and regulates barrier function.
  10. alpha-SNAP plays a key role in the acrosome reaction.
    Title: alpha-SNAP and NSF are required in a priming step during the human sperm acrosome reaction.
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

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNARE binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding ISS
Inferred from Sequence or Structural Similarity
more info
  
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 SNARE complex disassembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in apical protein localization IEA
Inferred from Electronic Annotation
more info
  
involved_in brain development IEA
Inferred from Electronic Annotation
more info
  
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 neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synaptic vesicle priming IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
part_of synaptobrevin 2-SNAP-25-syntaxin-1a complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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

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_003827.4 → NP_003818.2  alpha-soluble NSF attachment protein

    See identical proteins and their annotated locations for NP_003818.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
    Source sequence(s)
    AA542963, AK126519, BC028234
    Consensus CDS
    CCDS12702.1
    UniProtKB/Swiss-Prot
    A8K879, P54920, Q96IK3, Q9BVJ3
    UniProtKB/TrEMBL
    M0R2M1
    Related
    ENSP00000263354.2, ENST00000263354.8
    Conserved Domains (1) summary
    pfam14938
    Location:19 → 287
    SNAP; Soluble NSF attachment protein, SNAP

RNA

  1. NR_038456.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use the alternate splice site renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC073548, AW206113, U39412

  2. NR_038457.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA542963, AC073548, AK126519, CX873074
    Related
    ENST00000594001.5

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    47484530..47515063 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527436.2 → XP_011525738.1  alpha-soluble NSF attachment protein isoform X1

    Conserved Domains (2) summary
    cd15832
    Location:1 → 237
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    pfam14938
    Location:2 → 238
    SNAP; Soluble NSF attachment protein, SNAP

RNA

  1. XR_007067028.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    50317289..50345867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322487.1 → XP_054178462.1  alpha-soluble NSF attachment protein isoform X1

RNA

  1. XR_008485216.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54920.3 GenPept UniProtKB/Swiss-Prot:P54920

Gene LinkOut

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