SNPH - syntaphilin Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 9751

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	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
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

SNPH Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SNPH	O15079	RHBDD2	Homo sapiens	Q6NTF9-3	Validated Y2H	32296183
Intra	SNPH	O15079	RHBDD2	Homo sapiens	Q6NTF9-3	Y2H Prey Pooling	32296183
Intra	SNPH	O15079	RHBDD2	Homo sapiens	Q6NTF9-3	Y2H Array	32296183
Intra	SNPH	O15079	XPA	Homo sapiens	P23025	Validated Y2H	32296183
Intra	SNPH	O15079	ATP6V1H	Homo sapiens	Q9UI12	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

SNPH 抗体

製品番号	製品名	アプリケーション	反応性
HY-P89678	Syntaphilin Antibody (YA9022)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13494	SNPH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	SNPH	NCBI