1. Gene
  2. SRGAP1 - SLIT-ROBO Rho GTPase activating protein 1 Gene

SRGAP1 - SLIT-ROBO Rho GTPase activating protein 1 Gene

中文名称:SLIT-ROBO Rho GTPase 激活蛋白 1

种属: Homo sapiens

同用名: NMTC2; ARHGAP13

基因 ID: 57522 | 基因类型: protein coding

关于 SRGAP1

Cytogenetic location: 12q14.2 Genomic coordinates (GRCh38): 12:63,844,700-64,162,217 (from NCBI)

This gene has 8 transcripts (splice variants), 278 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 2.6), thyroid (RPKM 2.5) and 24 other tissues.

功能概要

该基因编码的蛋白质是一种 GTP 酶激活剂,与 GTP 酶 CDC42 一起负向调节神经元迁移。编码的蛋白质与跨膜受体 ROBO1 相互作用,使 CDC42 失活。[RefSeq 提供,2016 年 9 月]

The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

SRGAP1 基因产物(2)

mRNA Protein Name
NM_001346201.2 NP_001333130.1 SLIT-ROBO Rho GTPase-activating protein 1 isoform 2
NM_020762.4 NP_065813.1 SLIT-ROBO Rho GTPase-activating protein 1 isoform 1
基因本体论
  • 分子功能
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
15161933 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

SRGAP1 蛋白结构

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (23 - 119)

RhoGAP

RhoGAP: RhoGAP domain (520 - 668)

SH3_9

SH3_9: Variant SH3 domain (750 - 797)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1085 a.a.
蛋白主名 其他名称

SLIT-ROBO Rho GTPase-activating protein 1

rho GTPase-activating protein 13

SRGAP1 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
SRGAP1 Q7Z6B7 YWHAZ Homo sapiens P63104 15161933
种属内
SRGAP1 Q7Z6B7 HTT Homo sapiens P42858
Y2H
17500595
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
Thyroid Cancer, Nonmedullary, 2

Thyroid Carcinoma, Follicular

Follicular Thyroid Carcinoma

NMTC2

Thyroid Cancer, Follicular

Thyroid Carcinoma, Follicular, Somatic

Ftc

Thyroid Cancer, Non-Medullary, 2

Thyroid Follicular Carcinoma

Follicular Thyroid Cancer

Cancer, Thyroid, Nonmedullary, Type 2

Thyroid Gland Adenocarcinoma

Follicular Carcinoma Of Unspecified Site

Moderately Differentiated Follicular Carcinoma Of Thyroid Gland

Pure Follicle Carcinoma Of Thyroid Gland

Pure Follicle Follicular Carcinoma Of Unspecified Site

Pure Follicular Carcinoma Of Thyroid Gland

Trabecular Follicular Carcinoma Of Thyroid Gland

Trabecular Follicular Carcinoma Of Unspecified Site

Well Differentiated Follicular Carcinoma Of Unspecified Site

Well Differentiated Follicular Carcinoma Of Thyroid Gland

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Dicer1 Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome

Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome

Ppb Familial Tumor Susceptibility Syndrome

Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility

Dicer1-Related Pleuropulmonary Blastoma

Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome

Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome

Ppbftds

Doid:0081063

Recombinase Activating Gene 1 Deficiency
Combined Cellular And Humoral Immune Defects With Granulomas

Combined Immunodeficiency With Skin Granulomas

CCHIDG

Cid Due To Rag 1/2 Deficiency

Combined Immunodeficiency Due To Rag 1/2 Deficiency

Combined Immunodeficiency With Granulomatosis

CHIDG

Immune Defects, Combined Cellular And Humoral With Granulomas

Immunodeficiency 39

IMD39

Immunodeficiency, Type 39

Immunodeficiency 44

IMD44

Carney Complex Variant

Carney Complex

Carney Syndrome

Carney Complex, Type 1

Lamb Syndrome

Name Syndrome

Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

Carney Complex - Trismus - Pseudocamptodactyly Syndrome

Carney Complex, Type 2

Car

Cnc1

Carney Myxoma-Endocrine Complex

Myxoma - Spotty Pigmentation - Endocrine Overactivity

Myxoma, Spotty Pigmentation, And Endocrine Overactivity

Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

Carney Complex-Trismus-Pseudocamptodactyly Syndrome

CACOV

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Multinodular Goiter
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

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
Felis catus SRGAP1 VGNC VGNC:65679
Macaca mulatta SRGAP1 VGNC VGNC:77939
Canis familiaris SRGAP1 VGNC VGNC:46801
Bos taurus SRGAP1 VGNC VGNC:35278
Mus musculus SRGAP1 MGD MGI:2152936
Rattus norvegicus SRGAP1 RGD RGD:1566260