SNAP47 - synaptosome associated protein 47 Gene

Homo sapiens

Also known as SVAP1; HEL170; SNAP-47; C1orf142; ESFI5812; HEL-S-290

Gene ID: 116841 | Gene type: protein coding

About SNAP47

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:227,728,168-227,781,226 (from NCBI)

This gene has 30 transcripts (splice variants), 200 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 8.2), ovary (RPKM 7.5) and 25 other tissues.

Summary

Predicted to enable SNAP receptor activity and syntaxin binding activity. Predicted to be involved in synaptic vesicle fusion to presynaptic active zone membrane and synaptic vesicle priming. Predicted to act upstream of or within long-term synaptic potentiation. Colocalizes with BLOC-1 complex. [provided by Alliance of Genome Resources, Apr 2022]

SNAP47 Products(7)

mRNA	Protein	Name
NM_001323930.2	NP_001310859.1	synaptosomal-associated protein 47 isoform b
NM_001323931.2	NP_001310860.1	synaptosomal-associated protein 47 isoform b
NM_001323932.2	NP_001310861.1	synaptosomal-associated protein 47 isoform b
NM_001323933.2	NP_001310862.1	synaptosomal-associated protein 47 isoform b
NM_001323934.2	NP_001310863.1	synaptosomal-associated protein 47 isoform b
NM_001323935.1	NP_001310864.1	synaptosomal-associated protein 47 isoform c
NM_053052.4	NP_444280.3	synaptosomal-associated protein 47 isoform b

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19546860	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of BLOC-1 complex	IDA IDA: Inferred from direct assay	19546860	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

synaptosomal-associated protein 47

epididymis luminal protein 170

Related Diseases

Diseases

Alias

Cochlear Disease

Cochlear Diseases

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

Cednik Syndrome	CEDNIK
Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome	Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma	Neurocutaneous Syndromes

Ascending Cholangitis

Vertigo, Benign Recurrent

Benign Paroxysmal Positional Vertigo	Bppv
Vestibulopathy, Familial	BRV
Vertigo, Benign Paroxysmal Positional	Benign Paroxysmal Positional Nystagmus
Benign Recurrent Vertigo	Familial Benign Recurrent Vertigo
Familial Vestibulopathy	Benign Paroxysmal Nystagmus
Bppv - [Benign Positional Paroxysmal Vertigo]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13476	SNAP47 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SNAP47	VGNC	VGNC:97223
Bos taurus	SNAP47	VGNC	VGNC:35053
Felis catus	SNAP47	VGNC	VGNC:65517
Rattus norvegicus	SNAP47	RGD	RGD:735194
Macaca mulatta	SNAP47	VGNC	VGNC:77800
Mus musculus	SNAP47	MGD	MGI:1915076

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