ARHGAP26 - Rho GTPase activating protein 26 Gene

Also Known as GRAF; GRAF1; OPHN1L; OPHN1L1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23092

About ARHGAP26

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:142,770,377-143,229,011 (from NCBI)

This gene has 23 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 76 phenotypes. Ubiquitous expression in brain (RPKM 7.0), gall bladder (RPKM 4.5) and 24 other tissues.

Summary

Interaction of a cell with the extracellular matrix triggers Integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]

ARHGAP26 Products (3)

mRNA Protein Name
NM_001135608.3 NP_001129080.1 rho GTPase-activating protein 26 isoform b
NM_001349547.2 NP_001336476.1 rho GTPase-activating protein 26 isoform c
NM_015071.6 NP_055886.1 rho GTPase-activating protein 26 isoform a
Molecular Function GO Annotation Evidence Références Source
enables phospholipid binding IDA
IDA: Inferred from direct assay
18954304 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11432776 GOA
enables protein-macromolecule adaptor activity IDA
IDA: Inferred from direct assay
38081847 GOA
Biological Process GO Annotation Evidence Références Source
involved in mitophagy IDA
IDA: Inferred from direct assay
38081847 GOA
Cellular Component GO Annotation Evidence Références Source
located in cytosol IDA
IDA: Inferred from direct assay
32344433 GOA
located in endosome membrane IDA
IDA: Inferred from direct assay
32344433 GOA
is active in mitochondrion IDA
IDA: Inferred from direct assay
38081847 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

ARHGAP26 Protein Structure

IMD

IMD: IRSp53/MIM homology domain (34 - 217)

RhoGAP

RhoGAP: RhoGAP domain (392 - 542)

SH3_9

SH3_9: Variant SH3 domain (763 - 812)

  • 0
  • 200
  • 400
  • 600
  • 814 a.a.
Protein Preferred Names Protein Names

rho GTPase-activating protein 26

  • GTPase regulator associated with focal adhesion kinase pp125(FAK)

ARHGAP26 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ARHGAP26 Q9UNA1 PKN3 Homo sapiens Q6P5Z2 11432776
Intra
ARHGAP26 Q9UNA1 CDC42EP2 Homo sapiens O14613 25416956
Intra
ARHGAP26 Q9UNA1 CDC42EP2 Homo sapiens O14613 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Juvenile Myelomonocytic Leukemia
  • Leukemia, Juvenile Myelomonocytic

  • JMML

  • Leukemia, Juvenile Myelomonocytic, Somatic

  • Juvenile Chronic Myelomonocytic Leukemia

  • Juvenile Chronic Myelogenous Leukemia

  • Leukemia, Myelomonocytic, Juvenile

  • Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Alpha-Thalassemia
  • Alpha Thalassemia

  • Alpha Thalassaemia

  • Alpha Plus Thalassemia

  • Thalassemia, Alpha-

  • Thalassemias, Alpha-

  • A-Thalassemia

  • Α-Thalassemia

  • A-THAL

  • Thalassemia

  • Alpha Thalassaemia Syndrome

Diffuse Gastric Cancer
  • Hereditary Diffuse Gastric Adenocarcinoma

  • Hereditary Diffuse Gastric Cancer

  • Signet Cell Adenocarcinoma

  • Signet Ring Cell Carcinoma

  • Signet Ring Cell Gastric Carcinoma

  • Signet Ring Gastric Carcinoma

  • Fdgc

  • Familial Diffuse Cancer Of Stomach

  • Familial Diffuse Gastric Cancer

  • Gastric Cancer, Familial Diffuse

  • Gastric Cancer, Hereditary Diffuse

  • Hdgc

  • Hereditary Diffuse Cancer Of Stomach

  • Diffuse Gastric Cancer Syndrome

  • Cancer, Gastric, Diffuse

  • Carcinoma, Signet Ring Cell

  • Gastric Signet Ring Carcinoma

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
Rattus norvegicus ARHGAP26 RGD RGD:1310923
Canis familiaris ARHGAP26 VGNC VGNC:38054
Macaca mulatta ARHGAP26 VGNC VGNC:69846
Mus musculus ARHGAP26 MGD MGI:1918552
Bos taurus ARHGAP26 VGNC VGNC:26084
Felis catus ARHGAP26 VGNC VGNC:59883