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  2. SNPH - syntaphilin Gene

SNPH - syntaphilin Gene

中文名称:亲突蛋白

种属: Homo sapiens

基因 ID: 9751 | 基因类型: protein coding

关于 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.

功能概要

Syntaxin-1、synaptobrevin/VAMP 和 SNAP25 相互作用形成 SNARE 复合体,这是突触小泡对接和融合所必需的。该基因编码的蛋白质与膜相关,并通过结合游离的 syntaxin-1 来抑制 SNARE 复合物的形成。该基因的表达似乎是大脑特异性的。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2015 年 12 月]

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 基因产物(2)

mRNA Protein Name
NM_001318234.2 NP_001305163.1 syntaphilin isoform 1
NM_014723.4 NP_055538.2 syntaphilin isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
15459722 GOA
located in cytoplasmic microtubule IDA
IDA: 通过直接分析推断
23264731 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SNPH 蛋白结构

Syntaphilin

Syntaphilin: Golgi-localised syntaxin-1-binding clamp (17 - 334)

  • 0
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  • 400
  • 494 a.a.
蛋白主名 其他名称

syntaphilin

SNPH 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SNPH O15079 RHBDD2 Homo sapiens Q6NTF9-3 32296183
种属内
SNPH O15079 RHBDD2 Homo sapiens Q6NTF9-3 32296183
种属内
SNPH O15079 RHBDD2 Homo sapiens Q6NTF9-3 32296183
种属内
SNPH O15079 XPA Homo sapiens P23025 32296183
种属内
SNPH O15079 ATP6V1H Homo sapiens Q9UI12 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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