SNPH - syntaphilin Gene

Homo sapiens

Gene ID: 9751 | Gene type: protein coding

About SNPH

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:1,266,294-1,309,327 (from NCBI)

This gene has 4 transcripts (splice variants), 231 orthologues and 1 paralogue. Broad expression in brain (RPKM 12.1), prostate (RPKM 2.0) and 18 other tissues.

Summary

Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

SNPH Products(2)

mRNA	Protein	Name
NM_001318234.2	NP_001305163.1	syntaphilin isoform 1
NM_014723.4	NP_055538.2	syntaphilin isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15459722	GOA
located in cytoplasmic microtubule	IDA IDA: Inferred from direct assay	23264731	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

SNPH Protein Structure

Syntaphilin

0
100
200
300
400
494 a.a.

Protein Preferred Names

Protein Names

syntaphilin

Related Diseases

Diseases

Alias

Neuronopathy, Distal Hereditary Motor, Type Viib

HMN7B	Hmn Viib
Dhmn7b	Neuropathy, Distal Hereditary Motor, Type Viib
Distal Hereditary Motor Neuronopathy Type 7b	Distal Hereditary Motor Neuropathy Type Viib
Neuronopathy, Distal Hereditary Motor, Type 7b	Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib
Lower Motor Neuron Disease, Dynactin Type	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b
Harper-Young Myopathy	Neuronopathy, Distal Hereditary Motor, 7b
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib	Lower Motor Neuron Disease Dynactin Type
Plmnd	Progressive Lower Motor Neuron Disease
Neuropathy, Motor, Distal, Hereditary, Type Viib

Distal Hereditary Motor Neuronopathy Type 7

Dhmn7	Dhmnvpy
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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-RS13494	SNPH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SNPH	RGD	RGD:1305867
Bos taurus	SNPH	VGNC	VGNC:35067
Canis familiaris	SNPH	VGNC	VGNC:46604
Macaca mulatta	SNPH	VGNC	VGNC:98449
Mus musculus	SNPH	MGD	MGI:2139270

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