ARHGEF9

Protein-coding gene in humans

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, DEE8

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]
Band	Xq11.1	End	63,809,274 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	X\|X C3	Start	94,092,541 bp^[2]
Band	X\|X C3	End	94,240,462 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

Brodmann area 46

prefrontal cortex

Region I of hippocampus proper

nucleus accumbens

parietal lobe

superior frontal gyrus

postcentral gyrus

dorsolateral prefrontal cortex

external globus pallidus

Brodmann area 9

Top expressed in

superior frontal gyrus

olfactory tubercle

piriform cortex

primary motor cortex

cerebellar cortex

hippocampus proper

globus pallidus

cingulate gyrus

medial dorsal nucleus

prefrontal cortex

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	guanyl-nucleotide exchange factor activity
Cellular component	cytoplasm cytosol postsynaptic density GABA-ergic synapse plasma 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 NP_001392830 NP_001392831
NP_001392832 NP_001392833 NP_001392834 NP_001392835 NP_001392836 NP_001392837 NP_001392838 NP_001392839 NP_001392840 NP_001392841 NP_001392842 NP_001392843 NP_001392844 NP_001392845 NP_001392846 NP_001392847

Location (UCSC)

Chr X: 63.63 – 63.81 Mb

Chr X: 94.09 – 94.24 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000131089 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025656 - 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.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9".
^ 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. S2CID 24878249.
^ 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. S2CID 27505034.

External links

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

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. PMC 6729214. 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. S2CID 2415901.
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. S2CID 24878249.