SRGAP1 - SLIT-ROBO Rho GTPase activating protein 1 Gene

Also Known as NMTC2; ARHGAP13

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57522

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
15161933 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

SRGAP1 Protein Structure

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.
Protein Preferred Names Protein Names

SLIT-ROBO Rho GTPase-activating protein 1

  • rho GTPase-activating protein 13

SRGAP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
SRGAP1 Q7Z6B7 YWHAZ Homo sapiens P63104
Pull Down
15161933
Intra
SRGAP1 Q7Z6B7 HTT Homo sapiens P42858
Y2H
17500595
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS13762 SRGAP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others SRGAP1 NCBI