1. Gene
  2. SNX13 - sorting nexin 13 Gene

SNX13 - sorting nexin 13 Gene

中文名称:排序 nexin 13

种属: Homo sapiens

同用名: RGS-PX1

基因 ID: 23161 | 基因类型: protein coding

关于 SNX13

Cytogenetic location: 7p21.1 Genomic coordinates (GRCh38): 7:17,790,761-17,940,494 (from NCBI)

This gene has 13 transcripts (splice variants), 212 orthologues and 3 paralogues. Ubiquitous expression in thyroid (RPKM 8.8), testis (RPKM 6.4) and 25 other tissues.

功能概要

该基因编码含有 PHOX 结构域和 RGS 结构域的蛋白质,属于分选连接蛋白 (SNX) 家族和 G 蛋白信号 (RGS) 家族的调节因子。 PHOX 结构域是磷酸肌醇结合结构域,SNX 家族成员参与细胞内运输。 RGS 家族成员是调节分子,可作为异源三聚体 G 蛋白的 G α 亚基的 GTP 酶激活蛋白。这种蛋白质的 RGS 结构域与 G alpha (s) 相互作用,加速其 GTP 水解,并减弱 G alpha (s) 介导的信号。这种蛋白质的过度表达会延迟表皮生长因子受体的溶酶体降解。由于其双功能作用,该蛋白可能将异源三聚体 G 蛋白信号转导和囊泡运输联系起来。[RefSeq 提供,2008 年 7 月]

This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]

SNX13 基因产物(8)

mRNA Protein Name
NM_001350862.2 NP_001337791.1 sorting nexin-13 isoform a
NM_001350863.2 NP_001337792.1 sorting nexin-13 isoform c
NM_001350864.2 NP_001337793.1 sorting nexin-13 isoform d
NM_001350866.2 NP_001337795.1 sorting nexin-13 isoform e
NM_001350867.2 NP_001337796.1 sorting nexin-13 isoform e
NM_001350868.2 NP_001337797.1 sorting nexin-13 isoform f
NM_001350870.2 NP_001337799.1 sorting nexin-13 isoform g
NM_015132.5 NP_055947.1 sorting nexin-13 isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatidylinositol binding IDA
IDA: 通过直接分析推断
11729322 GOA
enables phosphatidylinositol-3-phosphate binding IDA
IDA: 通过直接分析推断
25148684 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular protein transport IMP
IMP: 通过突变表型推断
11729322 GOA
involved in positive regulation of GTPase activity IDA
IDA: 通过直接分析推断
11729322 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome IDA
IDA: 通过直接分析推断
11729322 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

SNX13 蛋白结构

PXA

PXA: PXA domain (99 - 282)

RGS

RGS: Regulator of G protein signaling domain (374 - 512)

PX

PX: PX domain (571 - 675)

Nexin_C

Nexin_C: Sorting nexin C terminal (792 - 902)

  • 0
  • 200
  • 400
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  • 800
  • 957 a.a.
蛋白主名 其他名称

sorting nexin-13

rgs domain- and phox domain-containing protein

关联疾病

疾病名称 别名
Dermatosis Papulosa Nigra
Spinocerebellar Ataxia, Autosomal Recessive 20

Autosomal Recessive Spinocerebellar Ataxia 20

SCAR20

Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome

Autosomal Recessive Spinocerebellar Ataxia Type 20

Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 20

Ataxia, Spinocerebellar, Autosomal Recessive, Type 20

Saethre-Chotzen Syndrome

SCS

Acs3

Acs Iii

Chotzen Syndrome

Acrocephaly, Skull Asymmetry, And Mild Syndactyly

Acrocephalosyndactyly Type 3

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

Auralcephalosyndactyly

Acs 3

Acrocephalo-Syndactyly, Type 3

Blepharophimosis,Epicanthus Inversus, And Ptosis 3

Aural Cephalosyndactyly

Kurczynski-Casperson Syndrome

Acrocephalosyndactyly Iii

Dysostosis Craniofacialis With Hypertelorism

Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

Sakati Syndrome

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

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
Bos taurus SNX13 VGNC VGNC:106940
Felis catus SNX13 VGNC VGNC:65544
Rattus norvegicus SNX13 RGD RGD:1309778
Macaca mulatta SNX13 VGNC VGNC:77753
Canis familiaris SNX13 VGNC VGNC:46622
Mus musculus SNX13 MGD MGI:2661416