ARHGAP31

ARHGAP31
Identifiers
Aliases	ARHGAP31 , AOS1, CDGAP, Rho GTPase activating protein 31
External IDs	OMIM: 610911 MGI: 1333857 HomoloGene: 10644 GeneCards: ARHGAP31
Gene location (Human)
Chr.	Chromosome 3 (human)
End	119,420,714 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	38,533,636 bp
RNA expression pattern
	Top expressed in
	trigeminal ganglion; ; right ventricle; ; vena cava; ; pancreatic ductal cell; ; synovial joint; ; synovial membrane; ; spinal ganglia; ; right lung; ; lower lobe of lung; ; pericardium;
	Top expressed in
	right lung lobe; ; sciatic nerve; ; cumulus cell; ; atrium; ; left lung lobe; ; atrioventricular valve; ; seminal vesicula; ; external carotid artery; ; internal carotid artery; ; endocardial cushion;
	More reference expression data
	n/a
Gene ontology
Molecular function	SH3 domain binding ; GTPase activator activity ;
Cellular component	cytosol ; cell junction ; cell projection ; focal adhesion ; lamellipodium ;
Biological process	positive regulation of GTPase activity ; regulation of small GTPase mediated signal transduction ; signal transduction ; small GTPase mediated signal transduction ;
	Sources:Amigo / QuickGO
Orthologs
	57514
	12549
	ENSG00000031081
	ENSMUSG00000022799
	Q2M1Z3
	A6X8Z5
	NM_020754
	NM_020260
	NP_065805
	NP_064656
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated December 04, 2023

The Rho GTPase activating protein 31 is encoded in humans by the ARHGAP31 gene. It is a Cdc42/Rac1 GTPase regulator.^[5]

Function

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]

Clinical relevance

ARHGAP31 mutations result in a loss of available active Cdc42 and consequently disrupt actin cytoskeletal structures, causing syndromic cutis aplasia and limb anomalies.^[6]

Related Research Articles

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000031081 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022799 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene".
↑ Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, Fitzpatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC (May 2011). "Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies". Am. J. Hum. Genet. 88 (5): 574–85. doi:10.1016/j.ajhg.2011.04.013. PMC 3146732 . PMID 21565291.

External links

Human ARHGAP31 genome location and ARHGAP31 gene details page in the UCSC Genome Browser .

Bandyopadhyay S, Chiang CY, Srivastava J, et al. (2010). "A human MAP kinase interactome". Nat. Methods. 7 (10): 801–5. doi:10.1038/nmeth.1506. PMC 2967489 . PMID 20936779.
Jenna S, Hussain NK, Danek EI, et al. (2002). "The activity of the GTPase-activating protein CdGAP is regulated by the endocytic protein intersectin". J. Biol. Chem. 277 (8): 6366–73. doi: 10.1074/jbc.M105516200 . PMID 11744688.
Zhao C, Ma H, Bossy-Wetzel E, et al. (2003). "GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2". J. Biol. Chem. 278 (36): 34641–53. doi: 10.1074/jbc.M304594200 . PMID 12819203.
Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science. 307 (5715): 1621–5. Bibcode:2005Sci...307.1621B. doi:10.1126/science.1105776. PMID 15761153. S2CID 39457788.
Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID 8889548.
Danek EI, Tcherkezian J, Triki I, et al. (2007). "Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site". J. Biol. Chem. 282 (6): 3624–31. doi: 10.1074/jbc.M610073200 . PMID 17158447.
Nagase T, Ishikawa K, Kikuno R, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. doi: 10.1093/dnares/6.5.337 . PMID 10574462.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Tcherkezian J, Triki I, Stenne R, et al. (2006). "The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA". Biol. Cell. 98 (8): 445–56. doi: 10.1042/BC20050101 . PMID 16519628. S2CID 25545141.
Dubois PC, Trynka G, Franke L, et al. (2010). "Multiple common variants for celiac disease influencing immune gene expression". Nat. Genet. 42 (4): 295–302. doi:10.1038/ng.543. PMC 2847618 . PMID 20190752.
Lamarche-Vane N, Hall A (1998). "CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac". J. Biol. Chem. 273 (44): 29172–7. doi: 10.1074/jbc.273.44.29172 . PMID 9786927.
Horne BD, Hauser ER, Wang L, et al. (2009). "Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking". Ann. Hum. Genet. 73 (Pt 6): 551–8. doi:10.1111/j.1469-1809.2009.00540.x. PMC 2764812 . PMID 19706030.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000031081 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022799 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene".

[pmid21565291-6] Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, Fitzpatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC (May 2011). "Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies". Am. J. Hum. Genet. 88 (5): 574–85. doi:10.1016/j.ajhg.2011.04.013. PMC 3146732 . PMID 21565291.

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