ARHGAP31 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | ARHGAP31 , AOS1, CDGAP, Rho GTPase activating protein 31 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 610911 MGI: 1333857 HomoloGene: 10644 GeneCards: ARHGAP31 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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The Rho GTPase activating protein 31 is encoded in humans by the ARHGAP31 gene. It is a Cdc42/Rac1 GTPase regulator. [5]
ARHGAP31 encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP 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 and cell growth. [5]
ARHGAP31 mutations result in a loss of available active Cdc42 and consequently disrupt actin cytoskeletal structures, causing syndromic cutis aplasia and limb anomalies. [6]
The Rho family of GTPases is a family of small signaling G proteins, and is a subfamily of the Ras superfamily. The members of the Rho GTPase family have been shown to regulate many aspects of intracellular actin dynamics, and are found in all eukaryotic kingdoms, including yeasts and some plants. Three members of the family have been studied in detail: Cdc42, Rac1, and RhoA. All G proteins are "molecular switches", and Rho proteins play a role in organelle development, cytoskeletal dynamics, cell movement, and other common cellular functions.
Mitogen-activated protein kinase kinase kinase 11 is an enzyme that in humans is encoded by the MAP3K11 gene.
Rho GTPase-activating protein 1 is an enzyme that in humans is encoded by the ARHGAP1 gene.
Ras GTPase-activating-like protein IQGAP1 (IQGAP1) also known as p195 is a ubiquitously expressed protein that in humans is encoded by the IQGAP1 gene. IQGAP1 is a scaffold protein involved in regulating various cellular processes ranging from organization of the actin cytoskeleton, transcription, and cellular adhesion to regulating the cell cycle.
Rho guanine nucleotide exchange factor 7 is a protein that in humans is encoded by the ARHGEF7 gene.
Rho guanine nucleotide exchange factor 6 is a protein that, in humans, is encoded by the ARHGEF6 gene.
Guanine nucleotide exchange factor VAV2 is a protein that in humans is encoded by the VAV2 gene.
Cdc42-interacting protein 4 is a protein that in humans is encoded by the TRIP10 gene.
Protein ECT2 is a protein that in humans is encoded by the ECT2 gene.
Rho-related GTP-binding protein RhoQ is a protein that in humans is encoded by the RHOQ gene.
Chimerin 2 (beta-chimaerin) is a protein that in humans is encoded by the CHN2 gene.
Serine/threonine-protein kinase MRCK alpha is an enzyme that in humans is encoded by the CDC42BPA gene.
Cdc42 effector protein 3 is a protein that in humans is encoded by the CDC42EP3 gene.
Guanine nucleotide exchange factor VAV3 is a protein that in humans is encoded by the VAV3 gene.
Cdc42 effector protein 1 is a protein that in humans is encoded by the CDC42EP1 gene.
Integrin beta-8 is a protein that in humans is encoded by the ITGB8 gene.
Rho GTPase-activating protein 32 is a protein that in humans is encoded by the RICS gene. RICS has two known isoforms, RICS that are expressed primarily at neurite growth cones, and at the post synaptic membranes, and PX-RICS which is more widely expressed in the endoplasmic reticulum, Golgi apparatus and endosomes. The only known domain of the RICS is the RhoGAP domain, whilst PX-RICS has an additional Phox homology and SH3 domain.
FYVE, RhoGEF and PH domain-containing protein 4 is a protein that in humans is encoded by the FGD4 gene.
FYVE, RhoGEF and PH domain-containing protein 2 (FGD2), also known as zinc finger FYVE domain-containing protein 4 (ZFYVE4), is a protein that in humans is encoded by the FGD2 gene.
Rho GTPase activating protein 21 is a protein that in humans is encoded by the ARHGAP21 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.