The Rho GTPase activating protein 31 is encoded in humans by the ''ARHGAP31'' gene. It is a
Cdc42/
Rac1 GTPase
GTPases are a large family of hydrolase enzymes that bind to the nucleotide guanosine triphosphate (GTP) and hydrolyze it to guanosine diphosphate (GDP). The GTP binding and hydrolysis takes place in the highly conserved P-loop "G domain", a pro ...
regulator.
Function
ARHGAP31 encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by
Rho GTPases
Rho GTPase may refer to:
*Any member of the Rho family of GTPases
*The members of the Rho family of GTPases belonging to the '' Rho subclass''
*RHOA
Transforming protein RhoA, also known as Ras homolog family member A (RhoA), is a small GTPase ...
which cycle between an inactive form bound to
GDP
Gross domestic product (GDP) is a monetary measure of the market value of all the final goods and services produced and sold (not resold) in a specific time period by countries. Due to its complex and subjective nature this measure is ofte ...
and an active form bound to
GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in
protein trafficking
:''This article deals with protein targeting in eukaryotes unless specified otherwise.''
Protein targeting or protein sorting is the biological mechanism by which proteins are transported to their appropriate destinations within or outside the c ...
and
cell growth.
Clinical relevance
ARHGAP31 mutations result in a loss of available active Cdc42 and consequently disrupt
actin
Actin is a family of globular multi-functional proteins that form microfilaments in the cytoskeleton, and the thin filaments in muscle fibrils. It is found in essentially all eukaryotic cells, where it may be present at a concentration of ov ...
cytoskeletal
The cytoskeleton is a complex, dynamic network of interlinking protein filaments present in the cytoplasm of all cells, including those of bacteria and archaea. In eukaryotes, it extends from the cell nucleus to the cell membrane and is compo ...
structures, causing
syndromic cutis aplasia and limb anomalies.
References
External links
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Proteins
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