SRGAP1 - SLIT-ROBO Rho GTPase activating protein 1 Gene

Homo sapiens

Also known as NMTC2; ARHGAP13

Gene ID: 57522 | Gene type: protein coding

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	Reference	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

RhoGAP

SH3_9

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13762	SRGAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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