ARHGAP4 - Rho GTPase activating protein 4 Gene

Also Known as C1; RGC1; p115; SrGAP4; RhoGAP4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 393

About ARHGAP4

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,907,378-153,926,264 (from NCBI)

This gene has 25 transcripts (splice variants), 248 orthologues and 5 paralogues. Broad expression in spleen (RPKM 47.8), bone marrow (RPKM 45.7) and 16 other tissues.

Summary

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the Ras superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

ARHGAP4 Products (2)

mRNA Protein Name
NM_001164741.2 NP_001158213.1 rho GTPase-activating protein 4 isoform 1
NM_001666.5 NP_001657.3 rho GTPase-activating protein 4 isoform 2
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
26365803 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16417406 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

ARHGAP4 Protein Structure

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (23 - 124)

RhoGAP

RhoGAP: RhoGAP domain (521 - 669)

SH3_1

SH3_1: SH3 domain (752 - 797)

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  • 946 a.a.
Protein Preferred Names Protein Names

rho GTPase-activating protein 4

  • Rho-GAP hematopoietic protein C1

Related Diseases

Diseases Alias
Nephrogenic Diabetes Insipidus
  • Vasopressin-Resistant Diabetes Insipidus

  • Diabetes Insipidus, Nephrogenic

  • Diabetes Insipidus Nephrogenic

  • Congenital Nephrogenic Diabetes Insipidus

  • Adh Resistant Diabetes Insipidus

  • Diabetes Insipidus Nephrogenic X-Linked

  • Diabetes Insipidus Nephrogenic Type 1

  • Adh-Resistant Diabetes Insipidus

  • Diabetes Insipidus Renalis

  • Ndi

  • Renal Diabetes Insipidus

  • Familial Nephrogenic Diabetes

  • Antidiuretic-Hormone-Resistant Diabetes Insipidus

  • Adiuretin-Resistant Diabetes Insipidus

  • Ndi - [Nephrogenic Diabetes Insipidus]

  • Diabetes Tenuifluus

  • Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

  • Hereditary Nephrogenic Diabetes Insipidus

  • Familial Nephrogenic Diabetes Insipidus

  • Primary Nephrogenic Diabetes Insipidus

Diabetes Insipidus
X-Linked Nephrogenic Diabetes Insipidus
  • Nephrogenic Diabetes Insipidus Type 1

  • Doid:0081060

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

Orthologs Information

Species Symbol Source ID
Mus musculus ARHGAP4 MGD MGI:2159577
Rattus norvegicus ARHGAP4 RGD RGD:628901
Felis catus ARHGAP4 VGNC VGNC:68113
Canis familiaris ARHGAP4 VGNC VGNC:38063
Bos taurus ARHGAP4 VGNC VGNC:26095
Macaca mulatta ARHGAP4 VGNC VGNC:70007
Others ARHGAP4 NCBI