SNAP25 synaptosome associated protein 25 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNAP25provided by HGNC
Official Full Name: synaptosome associated protein 25provided by HGNC
Primary source: HGNC:HGNC:11132
See related: Ensembl:ENSG00000132639 MIM:600322; AllianceGenome:HGNC:11132
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: SUP; RIC4; SEC9; SNAP; CMS18; RIC-4; SNAP-25; bA416N4.2; dJ1068F16.2
Summary: Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward brain (RPKM 418.5) See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (10218830..10307418)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (10261695..10350292)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (10199478..10288066)

Chromosome 20 - NC_000020.11 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 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?

Neuronal-specific TNFAIP1 ablation attenuates postoperative cognitive dysfunction via targeting SNAP25 for K48-linked ubiquitination.
Title: Neuronal-specific TNFAIP1 ablation attenuates postoperative cognitive dysfunction via targeting SNAP25 for K48-linked ubiquitination.
The Role of SNAP-25 in Autism Spectrum Disorders Onset Patterns.
Title: The Role of SNAP-25 in Autism Spectrum Disorders Onset Patterns.
Sex-specific effects of SNAP-25 genotype on verbal memory and Alzheimer's disease biomarkers in clinically normal older adults.
Title: Sex-specific effects of SNAP-25 genotype on verbal memory and Alzheimer's disease biomarkers in clinically normal older adults.
Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients.
Title: Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients.
Role of SNAP25 on the occurrence and development of eosinophilic gastritis.
Title: Role of SNAP25 on the occurrence and development of eosinophilic gastritis.
Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility.
Title: Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility.
miR-23a-3p and miR-181a-5p modulate SNAP-25 expression.
Title: miR-23a-3p and miR-181a-5p modulate SNAP-25 expression.
Investigation of possible associations of the BDNF, SNAP-25 and SYN III genes with the neurocognitive measures: BDNF and SNAP-25 genes might be involved in attention domain, SYN III gene in executive function.
Title: Investigation of possible associations of the BDNF, SNAP-25 and SYN III genes with the neurocognitive measures: BDNF and SNAP-25 genes might be involved in attention domain, SYN III gene in executive function.
Role of SNAP-25 MnlI variant in impaired working memory and brain functions in attention deficit/hyperactivity disorder.
Title: Role of SNAP-25 MnlI variant in impaired working memory and brain functions in attention deficit/hyperactivity disorder.
Cerebrospinal Fluid Synaptosomal-Associated Protein 25 Levels in Patients with Alzheimer's Disease: A Meta-Analysis.
Title: Cerebrospinal Fluid Synaptosomal-Associated Protein 25 Levels in Patients with Alzheimer's Disease: A Meta-Analysis.

Submit: New GeneRIF Correction See all GeneRIFs (151)

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

Associated conditions

Description	Tests
Congenital myasthenic syndrome 18 MedGen: C4225364 OMIM: 616330 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the pre-synaptic protein SNAP25 expression via neuronal mir-128 in primary cortical neurons	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64137 (e-PCR)
- UniSTS:46087

WI-18780 (e-PCR)
- UniSTS:6171

Z94685 (e-PCR)
- UniSTS:53298

WI-14216 (e-PCR)
- UniSTS:83510

WI-19889 (e-PCR)
- UniSTS:9021

SHGC-68771 (e-PCR)
- UniSTS:100680

STS-AA017039 (e-PCR)
- UniSTS:1113

RH47511 (e-PCR)
- UniSTS:73578

RH122608 (e-PCR)
- UniSTS:135053

D20S763 (e-PCR)
- UniSTS:76449

1788 (e-PCR)
- UniSTS:71598

STS-AA017039 (e-PCR)
- UniSTS:23748

SHGC-12843 (e-PCR)
- UniSTS:35269

RH28686 (e-PCR)
- UniSTS:85718

MARC_11717-11718:997472340:1 (e-PCR)
- UniSTS:267259

MARC_11717-11718:1029180244:1 (e-PCR)
- UniSTS:267259

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNAP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables lipid binding	EXP Inferred from Experiment more info	PubMed
enables myosin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables syntaxin-1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin-1 binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info
enables voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in SNARE complex assembly	IEA Inferred from Electronic Annotation more info
involved_in associative learning	IEA Inferred from Electronic Annotation more info
involved_in axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	NAS Non-traceable Author Statement more info	PubMed
involved_in endosomal transport	IEA Inferred from Electronic Annotation more info
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in long-term memory	IEA Inferred from Electronic Annotation more info
involved_in long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter uptake	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in presynaptic dense core vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of insulin secretion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle docking	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic vesicle exocytosis	TAS Traceable Author Statement more info	PubMed
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

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of SNARE complex	IDA Inferred from Direct Assay more info	PubMed
part_of SNARE complex	ISS Inferred from Sequence or Structural Similarity more info
part_of SNARE complex	TAS Traceable Author Statement more info	PubMed
located_in actin cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in axonal growth cone	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in extrinsic component of presynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynaptic membrane	TAS Traceable Author Statement more info	PubMed
located_in ribbon synapse	IEA Inferred from Electronic Annotation more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info
part_of synaptobrevin 2-SNAP-25-syntaxin-1a complex	IEA Inferred from Electronic Annotation more info
part_of synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex	IBA Inferred from Biological aspect of Ancestor more info
part_of synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex	IEA Inferred from Electronic Annotation more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info
colocalizes_with vesicle	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated potassium channel complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: synaptosomal-associated protein 25

Names: resistance to inhibitors of cholinesterase 4 homolog; synaptosomal-associated protein, 25kDa; synaptosome associated protein 25kDa

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.

Genomic

NG_029626.1 RefSeqGene

Range

5002..93590

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001322902.2 → NP_001309831.1 synaptosomal-associated protein 25 isoform SNAP25A

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13109.1

UniProtKB/Swiss-Prot

P60880

Related

ENSP00000516314.1, ENST00000706269.1

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_001322903.2 → NP_001309832.1 synaptosomal-associated protein 25 isoform SNAP25B

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13110.1

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Related

ENSP00000508541.1, ENST00000691665.1

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_001322904.2 → NP_001309833.1 synaptosomal-associated protein 25 isoform SNAP25B

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13110.1

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Related

ENSP00000510558.1, ENST00000693325.1

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_001322905.2 → NP_001309834.1 synaptosomal-associated protein 25 isoform SNAP25B

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13110.1

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Related

ENSP00000510663.1, ENST00000689858.1

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_001322906.2 → NP_001309835.1 synaptosomal-associated protein 25 isoform SNAP25B

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13110.1

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Related

ENSP00000508837.1, ENST00000685131.1

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_001322907.2 → NP_001309836.1 synaptosomal-associated protein 25 isoform SNAP25B

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13110.1

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Related

ENSP00000510109.1, ENST00000691161.1

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_001322908.2 → NP_001309837.1 synaptosomal-associated protein 25 isoform SNAP25B

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13110.1

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Related

ENSP00000510219.1, ENST00000687785.1

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_001322909.2 → NP_001309838.1 synaptosomal-associated protein 25 isoform SNAP25B

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13110.1

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_001322910.2 → NP_001309839.1 synaptosomal-associated protein 25 isoform SNAP25B

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13110.1

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_001424415.1 → NP_001411344.1 synaptosomal-associated protein 25 isoform SNAP25A

Status: REVIEWED

Source sequence(s)

AL023913, AL354824
NM_001424416.1 → NP_001411345.1 synaptosomal-associated protein 25 isoform SNAP25B

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Related

ENSP00000509759.1, ENST00000691353.1
NM_003081.5 → NP_003072.2 synaptosomal-associated protein 25 isoform SNAP25A

See identical proteins and their annotated locations for NP_003072.2

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13109.1

UniProtKB/Swiss-Prot

P60880

Related

ENSP00000307341.2, ENST00000304886.6

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
NM_130811.4 → NP_570824.1 synaptosomal-associated protein 25 isoform SNAP25B

See identical proteins and their annotated locations for NP_570824.1

Status: REVIEWED

Source sequence(s)

AL023913, AL354824

Consensus CDS

CCDS13110.1

UniProtKB/Swiss-Prot

B2RAU4, D3DW16, D3DW17, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45

Related

ENSP00000254976.3, ENST00000254976.7

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

10218830..10307418

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017028022.2 → XP_016883511.1 synaptosomal-associated protein 25 isoform X2

UniProtKB/Swiss-Prot

P60880

Conserved Domains (3) summary

cd15885
Location:143 → 201

SNARE_SNAP25C; C-terminal SNARE motif of SNAP25

cd15894
Location:10 → 82

SNARE_SNAP25N; N-terminal SNARE motif of SNAP25

pfam00835
Location:91 → 141

SNAP-25; SNAP-25 family
XM_047440391.1 → XP_047296347.1 synaptosomal-associated protein 25 isoform X3