ARHGAP26

Also known as GRAF, GRAF1, OPHN1L, OPHN1L1, Rho GTPase activating protein 26

Rho GTPase activating protein 26 (ARHGAP26) also known as GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) is a protein that in humans is encoded by the ARHGAP26 gene.

Gene data

ARHGAP26

Name: Rho GTPase activating protein 26
Type: protein-coding
Position: 142,770,377–143,229,011 (+)
Aliases: GRAF, GRAF1, OPHN1L, OPHN1L1
Ensembl: ENSG00000145819
RefSeq RNA: NM_001135608.3, NM_001349547.2, NM_015071.6, NR_146198.2, XM_005268398.6
RefSeq protein: NP_001129080.1, NP_001336476.1, NP_055886.1, XP_005268455.2, XP_005268456.2

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].

Gene Ontology

Biological process

mitophagy

Article

5 sections

Contents

Function
Interactions
References
Further reading
External links

Rho GTPase activating protein 26 (ARHGAP26) also known as GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) is a protein that in humans is encoded by the ARHGAP26 gene.

== Function == GRAF1 is a multidomain protein that is necessary for the CLIC/GEEC endocytic pathway. By virtue of an N-terminal BAR domain, GRAF1 sculpts the endocytic membranes of this pathway into 40 nm diameter tubules and vesicles that allow uptake of extracellular fluid, GPI-linked proteins and certain bacterial exotoxins into cells. The role of dynamin in the CLIC/GEEC pathway is controversial, but GRAF1 interacts strongly with this protein and acute inhibition of dynamin action abrogates CLIC/GEEC endocytosis. There are several members of the GRAF family of proteins, including GRAF2, GRAF3, and oligophrenin, all of which likely playing similar roles during clathrin-independent endocytic events. Mutations of both GRAF1 and oligophrenin are strongly implicated in causing human disease (leukaemia and mental retardation, respectively). Recently, autoantibodies to ARHGAP26 have been implicated in autoimmune cerebellar ataxia.