ARHGEF9

Rho guanine nucleotide exchange factor 9 is a protein that in humans is encoded by the ARHGEF9 gene.[5][6][7]

ARHGEF9
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YSQ
Identifiers
Aliases	ARHGEF9, COLLYBISTIN, EIEE8, HPEM-2, PEM-2, PEM2, Cdc42 guanine nucleotide exchange factor 9
External IDs	OMIM: 300429 MGI: 2442233 HomoloGene: 9053 GeneCards: ARHGEF9
Gene location (Human) Chr. X chromosome (human)[1] Band Xq11.1 Start 63,634,967 bp[1] End 63,809,274 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X C3 Start 95,048,935 bp[2] End 95,196,856 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • Rho guanyl-nucleotide exchange factor activity • guanyl-nucleotide exchange factor activity Cellular component • cytoplasm • cytosol • GO:0097483, GO:0097481 postsynaptic density • GABA-ergic synapse • cell membrane • membrane • cell junction • synapse • postsynaptic membrane Biological process • positive regulation of apoptotic process • regulation of Rho protein signal transduction • regulation of small GTPase mediated signal transduction • G-protein coupled receptor signaling pathway • regulation of postsynaptic specialization assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23229	236915
Ensembl	ENSG00000131089	ENSMUSG00000025656
UniProt	O43307	Q3UTH8
RefSeq (mRNA)	NM_001173479 NM_001173480 NM_015185 NM_001330495 NM_001353921 NM_001353922 NM_001353923 NM_001353924 NM_001353926 NM_001353927 NM_001353928 NM_001369030 NM_001369031 NM_001369032 NM_001369033 NM_001369034 NM_001369035 NM_001369036 NM_001369037 NM_001369038 NM_001369039 NM_001369040 NM_001369041 NM_001369042 NM_001369043 NM_001369044 NM_001369045	NM_001033329 NM_001290384 NM_001290385
RefSeq (protein)	NP_001166950 NP_001166951 NP_001317424 NP_056000 NP_001340850 NP_001340851 NP_001340852 NP_001340853 NP_001340855 NP_001340856 NP_001340857 NP_001355959 NP_001355960 NP_001355961 NP_001355962 NP_001355963 NP_001355964 NP_001355965 NP_001355966 NP_001355967 NP_001355968 NP_001355969 NP_001355970 NP_001355971 NP_001355972 NP_001355973 NP_001355974	NP_001028501 NP_001277313 NP_001277314
Location (UCSC)	Chr X: 63.63 – 63.81 Mb	Chr X: 95.05 – 95.2 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

ARHGEF9 belongs to a family of Rho-like GTPases that act as molecular switches by cycling from the active GTP-bound state to the inactive GDP-bound state. These proteins are key regulators of the actin cytoskeleton and are involved in cell signaling.[supplied by OMIM][7]

Interactions

ARHGEF9 has been shown to interact with GPHN[8] and SMURF1.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000131089 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025656 - 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.
5. Reid T, Bathoorn A, Ahmadian MR, Collard JG (Dec 1999). "Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42". J Biol Chem. 274 (47): 33587–93. doi:10.1074/jbc.274.47.33587. PMID 10559246.
6. Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Feb 1998). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 4 (5): 307–13. doi:10.1093/dnares/4.5.307. PMID 9455477.
7. "Entrez Gene: ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9".
8. Kins S, Betz H, Kirsch J (2000). "Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin". Nat. Neurosci. 3 (1): 22–9. doi:10.1038/71096. PMID 10607391.
9. Yamaguchi K, Ohara O, Ando A, Nagase T (Apr 2008). "Smurf1 directly targets hPEM-2, a GEF for Cdc42, via a novel combination of protein interaction modules in the ubiquitin-proteasome pathway". Biol. Chem. 389 (4): 405–13. doi:10.1515/BC.2008.036. PMID 18208356.

External links

• Human ARHGEF9 genome location and ARHGEF9 gene details page in the UCSC Genome Browser.

Further reading

• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
• Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Lüscher B, Rees MI, Harvey RJ (2004). "The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering" (PDF). J. Neurosci. 24 (25): 5816–26. doi:10.1523/JNEUROSCI.1184-04.2004. PMID 15215304.
• Grosskreutz Y, Hermann A, Kins S, Fuhrmann JC, Betz H, Kneussel M (2002). "Identification of a gephyrin-binding motif in the GDP/GTP exchange factor collybistin". Biol. Chem. 382 (10): 1455–62. doi:10.1515/BC.2001.179. PMID 11727829.
• Kins S, Betz H, Kirsch J (2000). "Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin". Nat. Neurosci. 3 (1): 22–9. doi:10.1038/71096. PMID 10607391.