Rho GTPase activating protein 26 (ARHGAP26) also known as
GTPase
Regulator
Associated with
Focal Adhesion Kinase (GRAF) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''ARHGAP26''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
GRAF1 is a multidomain protein that is necessary for the
CLIC/
GEEC endocytic pathway.
By virtue of an N-terminal
BAR domain
In molecular biology, BAR domains are highly conserved protein dimerisation domains that occur in many proteins involved in membrane dynamics in a cell. The BAR domain is banana-shaped and binds to membrane via its concave face. It is cap ...
, 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
Dynamin is a GTPase responsible for endocytosis in the eukaryotic cell. Dynamin is part of the "dynamin superfamily
Dynamin Superfamily Protein (DSP) is a protein superfamily includes classical dynamins, GBPs, Mx proteins, OPA1, mitofusins i ...
in the CLIC/GEEC pathway is controversial, but GRAF1 interacts strongly with this protein and acute inhibition of
dynamin
Dynamin is a GTPase responsible for endocytosis in the eukaryotic cell. Dynamin is part of the "dynamin superfamily
Dynamin Superfamily Protein (DSP) is a protein superfamily includes classical dynamins, GBPs, Mx proteins, OPA1, mitofusins i ...
action abrogates CLIC/GEEC
endocytosis
Endocytosis is a cellular process in which substances are brought into the cell. The material to be internalized is surrounded by an area of cell membrane, which then buds off inside the cell to form a vesicle containing the ingested material. E ...
. 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
Leukemia ( also spelled leukaemia and pronounced ) is a group of blood cancers that usually begin in the bone marrow and result in high numbers of abnormal blood cells. These blood cells are not fully developed and are called ''blasts'' or ' ...
and
mental retardation
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signific ...
, respectively). Recently,
autoantibodies to ARHGAP26 have been implicated in autoimmune
cerebellar ataxia
Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias.
Cerebellar ataxia can occur as a result of many diseases and may present with symptom ...
.
Interactions
ARHGAP26 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
PKN3.
References
Further reading
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External links
ARHGAP26Info with links in th
Cell Migration Gateway*
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