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

SNAP47 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SNAP47	Q5SQN1	MID2	Homo sapiens	Q9UJV3-2	Y2H Array	25416956
Intra	SNAP47	Q5SQN1	MID2	Homo sapiens	Q9UJV3-2	Y2H Prey Pooling	25416956
Intra	SNAP47	Q5SQN1	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	25416956
Intra	SNAP47	Q5SQN1	FAM9B	Homo sapiens	Q8IZU0	Y2H Array	25416956
Intra	SNAP47	Q5SQN1	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	25416956
Intra	SNAP47	Q5SQN1	FAM9B	Homo sapiens	Q8IZU0	Y2H Prey Pooling	25416956
Intra	SNAP47	Q5SQN1	CEP57L1	Homo sapiens	Q8IYX8-2	Y2H Array	25416956
Intra	SNAP47	Q5SQN1	TRIM59	Homo sapiens	Q8IWR1	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	TRIM59	Homo sapiens	Q8IWR1	Validated Y2H	32296183
Intra	SNAP47	Q5SQN1	TRIM59	Homo sapiens	Q8IWR1	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	RNF170	Homo sapiens	Q96K19-5	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	RNF170	Homo sapiens	Q96K19-5	Validated Y2H	32296183
Intra	SNAP47	Q5SQN1	RNF170	Homo sapiens	Q96K19-5	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	AQP2	Homo sapiens	P41181	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	AQP2	Homo sapiens	P41181	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	APOC4	Homo sapiens	P55056	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	APOC4	Homo sapiens	P55056	Y2H Array	32296183
Cross	SNAP47	Q5SQN1	P0C6X7-PRO_0000037316	Human SARS coronavirus	P0C6X7-PRO_0000037316	Lumier	22046132
Cross	SNAP47	Q5SQN1	P0C6X7-PRO_0000037316	Human SARS coronavirus	P0C6X7-PRO_0000037316	Y2H Pooling	22046132
Intra	SNAP47	Q5SQN1	LIME1	Homo sapiens	Q9H400	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	LIME1	Homo sapiens	Q9H400	Validated Y2H	32296183
Intra	SNAP47	Q5SQN1	LIME1	Homo sapiens	Q9H400	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	PVR	Homo sapiens	P15151	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	PVR	Homo sapiens	P15151	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	SAR1A	Homo sapiens	Q9NR31	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	SAR1A	Homo sapiens	Q9NR31	Validated Y2H	32296183
Intra	SNAP47	Q5SQN1	SAR1A	Homo sapiens	Q9NR31	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	LRRC4C	Homo sapiens	Q9HCJ2	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	LRRC4C	Homo sapiens	Q9HCJ2	Validated Y2H	32296183
Intra	SNAP47	Q5SQN1	LRRC4C	Homo sapiens	Q9HCJ2	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	GOLGA2	Homo sapiens	Q08379	Y2H Array	25416956
Intra	SNAP47	Q5SQN1	GOLGA2	Homo sapiens	Q08379	Validated Y2H	25416956
Intra	SNAP47	Q5SQN1	STX1A	Homo sapiens	Q16623	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	STX1A	Homo sapiens	Q16623	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	MGST3	Homo sapiens	O14880	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	MGST3	Homo sapiens	O14880	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	F11R	Homo sapiens	Q9Y624	Validated Y2H	32296183
Intra	SNAP47	Q5SQN1	F11R	Homo sapiens	Q9Y624	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	F11R	Homo sapiens	Q9Y624	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	25416956
Intra	SNAP47	Q5SQN1	FATE1	Homo sapiens	Q969F0	Validated Y2H	25416956
Intra	SNAP47	Q5SQN1	KASH5	Homo sapiens	Q8N6L0	Validated Y2H	32296183
Intra	SNAP47	Q5SQN1	KASH5	Homo sapiens	Q8N6L0	Y2H Array	32296183
Intra	SNAP47	Q5SQN1	KASH5	Homo sapiens	Q8N6L0	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	STX1B	Homo sapiens	P61266	Y2H Prey Pooling	32296183
Intra	SNAP47	Q5SQN1	STX1B	Homo sapiens	P61266	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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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