SNAP23 synaptosome associated protein 23 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNAP23provided by HGNC
Official Full Name: synaptosome associated protein 23provided by HGNC
Primary source: HGNC:HGNC:11131
See related: Ensembl:ENSG00000092531 MIM:602534; AllianceGenome:HGNC:11131
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: SNAP-23; SNAP23A; SNAP23B; HsT17016
Summary: Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 25.6), appendix (RPKM 23.5) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 15q15.1-q15.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (42491129..42533058)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (40297171..40339102)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (42787832..42825256)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Syntaxin-4 and SNAP23 are involved in neutrophil degranulation, but not in the release of mitochondrial DNA during NET formation.
Title: Syntaxin-4 and SNAP23 are involved in neutrophil degranulation, but not in the release of mitochondrial DNA during NET formation.
Tumor-derived extracellular vesicles delivering TNF-alpha promotes colorectal cancer metastasis via the NF-kB/LAMB3/AKT axis by targeting SNAP23.
Title: Tumor-derived extracellular vesicles delivering TNF-α promotes colorectal cancer metastasis via the NF-kB/LAMB3/AKT axis by targeting SNAP23.
SNAP23 is essential for germination of EV-D68 replication organelles.
Title: SNAP23 is essential for germination of EV-D68 replication organelles.
SNAP23-Mediated Perturbation of Cholesterol-Enriched Membrane Microdomain Promotes Extracellular Vesicle Production in Src-Activated Cancer Cells.
Title: SNAP23-Mediated Perturbation of Cholesterol-Enriched Membrane Microdomain Promotes Extracellular Vesicle Production in Src-Activated Cancer Cells.
Pancreas-specific SNAP23 depletion prevents pancreatitis by attenuating pathological basolateral exocytosis and formation of trypsin-activating autolysosomes.
Title: Pancreas-specific SNAP23 depletion prevents pancreatitis by attenuating pathological basolateral exocytosis and formation of trypsin-activating autolysosomes.
LINC00511 drives invasive behavior in hepatocellular carcinoma by regulating exosome secretion and invadopodia formation.
Title: LINC00511 drives invasive behavior in hepatocellular carcinoma by regulating exosome secretion and invadopodia formation.
Let-7a regulates EV secretion and mitochondrial oxidative phosphorylation by targeting SNAP23 in colorectal cancer.
Title: Let-7a regulates EV secretion and mitochondrial oxidative phosphorylation by targeting SNAP23 in colorectal cancer.
SNAP23 depletion enables more SNAP25/calcium channel excitosome formation to increase insulin exocytosis in type 2 diabetes.
Title: SNAP23 depletion enables more SNAP25/calcium channel excitosome formation to increase insulin exocytosis in type 2 diabetes.
IKKbeta activation promotes amphisome formation and extracellular vesicle secretion in tumor cells.
Title: IKKβ activation promotes amphisome formation and extracellular vesicle secretion in tumor cells.
Reduction in SNAP-23 Alters Microfilament Organization in Myofibrobastic Hepatic Stellate Cells.
Title: Reduction in SNAP-23 Alters Microfilament Organization in Myofibrobastic Hepatic Stellate Cells.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH17890 (e-PCR)
- UniSTS:33651

A009K18 (e-PCR)
- UniSTS:62346

STS-H02552 (e-PCR)
- UniSTS:13729

RH93442 (e-PCR)
- UniSTS:87489

RH77806 (e-PCR)
- UniSTS:85962

G32612 (e-PCR)
- UniSTS:117195

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNAP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin-1 binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in histamine secretion by mast cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane fusion	TAS Traceable Author Statement more info	PubMed
involved_in post-Golgi vesicle-mediated transport	TAS Traceable Author Statement more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle fusion to presynaptic active zone membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle priming	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle targeting	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of SNARE complex	IDA Inferred from Direct Assay more info	PubMed
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in azurophil granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in specific granule	IDA Inferred from Direct Assay more info	PubMed
located_in specific granule membrane	TAS Traceable Author Statement more info
part_of synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex	IBA Inferred from Biological aspect of Ancestor more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: synaptosomal-associated protein 23

Names: synaptosomal-associated protein, 23kD; synaptosomal-associated protein, 23kDa; synaptosome associated protein 23kDa; vesicle-membrane fusion protein SNAP-23

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_003825.4 → NP_003816.2 synaptosomal-associated protein 23 isoform SNAP23A

See identical proteins and their annotated locations for NP_003816.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longer transcript, containing eight exons and encoding the full-length isoform (SNAP23A).

Source sequence(s)

AK290152, BC022890, BM782600

Consensus CDS

CCDS10087.1

UniProtKB/Swiss-Prot

O00161, O00162, Q13602, Q6IAE3

UniProtKB/TrEMBL

A8K287

Related

ENSP00000249647.3, ENST00000249647.8

Conserved Domains (3) summary

cd15884
Location:149 → 207

SNARE_SNAP23C; C-terminal SNARE motif of SNAP23

cd15895
Location:9 → 75

SNARE_SNAP23N; N-terminal SNARE motif of SNAP23

pfam00835
Location:86 → 147

SNAP-25; SNAP-25 family
NM_130798.3 → NP_570710.1 synaptosomal-associated protein 23 isoform SNAP23B

See identical proteins and their annotated locations for NP_570710.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks internal exon 6 but maintains the same reading frame as compared to transcript variant 1. It encodes an isoform (SNAP23B) which is missing 53 aa as compared to the full-length isoform (SNAP23A) encoded by transcript variant 1. The missing region is required for nonspecific binding of the protein to plasma membranes, indicating a functional difference between isoforms SNAP23A and SNAP23B.

Source sequence(s)

AK290152, BC022890, BM782600, DA650133

Consensus CDS

CCDS10088.1

Related

ENSP00000207062.1, ENST00000349777.5

Conserved Domains (2) summary

cd15884
Location:96 → 154

SNARE_SNAP23C; C-terminal SNARE motif of SNAP23

cl22856
Location:9 → 75

SNARE; SNARE motif

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_000015.10 Reference GRCh38.p14 Primary Assembly

Range

42491129..42533058

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047433203.1 → XP_047289159.1 synaptosomal-associated protein 23 isoform X2

UniProtKB/Swiss-Prot

O00161, O00162, Q13602, Q6IAE3

UniProtKB/TrEMBL

A8K287
XM_017022694.2 → XP_016878183.2 synaptosomal-associated protein 23 isoform X2

UniProtKB/Swiss-Prot

O00161, O00162, Q13602, Q6IAE3

UniProtKB/TrEMBL

A8K287
XM_047433202.1 → XP_047289158.1 synaptosomal-associated protein 23 isoform X2

UniProtKB/Swiss-Prot

O00161, O00162, Q13602, Q6IAE3

UniProtKB/TrEMBL

A8K287
XM_047433199.1 → XP_047289155.1 synaptosomal-associated protein 23 isoform X1
XM_047433200.1 → XP_047289156.1 synaptosomal-associated protein 23 isoform X1
XM_006720725.4 → XP_006720788.1 synaptosomal-associated protein 23 isoform X1

See identical proteins and their annotated locations for XP_006720788.1

Conserved Domains (3) summary

cd15884
Location:160 → 218

SNARE_SNAP23C; C-terminal SNARE motif of SNAP23

cd15895
Location:9 → 75

SNARE_SNAP23N; N-terminal SNARE motif of SNAP23

pfam00835
Location:100 → 158

SNAP-25; SNAP-25 family

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

40297171..40339102

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379043.1 → XP_054235018.1 synaptosomal-associated protein 23 isoform X2

UniProtKB/Swiss-Prot

O00161, O00162, Q13602, Q6IAE3

UniProtKB/TrEMBL

A8K287
XM_054379042.1 → XP_054235017.1 synaptosomal-associated protein 23 isoform X2

UniProtKB/Swiss-Prot

O00161, O00162, Q13602, Q6IAE3

UniProtKB/TrEMBL

A8K287
XM_054379041.1 → XP_054235016.1 synaptosomal-associated protein 23 isoform X2

UniProtKB/Swiss-Prot

O00161, O00162, Q13602, Q6IAE3

UniProtKB/TrEMBL

A8K287
XM_054379040.1 → XP_054235015.1 synaptosomal-associated protein 23 isoform X1
XM_054379039.1 → XP_054235014.1 synaptosomal-associated protein 23 isoform X1