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

Summary

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: mouse all
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Genomic context

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_000019.10 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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11568 (e-PCR)
- UniSTS:34894

RH15934 (e-PCR)
- UniSTS:15440

STS-R61534 (e-PCR)
- UniSTS:22001

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 more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in presynapse	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)

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

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
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

47484530..47515063 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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