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Rho guanine nucleotide exchange factor 12; leukemia-associated RhoGEF (ARHGEF12, KIAA0382, LARG)
Function:
- may play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) & guanine nucleotide-binding alpha-13 (GNA13)
- acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase & may act as GTPase-activating protein (GAP) for GNA12 & GNA13
- phosphorylated upon DNA damage, probably by ATM or ATR
- interacts with GNA12 & GNA13, probably through the RGS- like domain
- interacts with RHOA, PLXNB1 & PLXNB2
- interacts through its PDZ domain with IGF1R beta subunit
Structure:
- contains 1 DH (DBL-homology) domain
- contains 1 PDZ domain (DHR domain)
- contains 1 PH domain
- contains 1 RGSL (RGS-like) domain
Compartment:
- cytoplasm (probable)
- membrane (probable)
- translocated to the membrane upon stimulation (probable)
Alternative splicing: named isoforms=2
Expression:
- ubiquitously expressed
- isoform 2 is found in jejunum & testis
Pathology:
- chromosomal translocation t(11;11)(q23;23) involving ARHGEF12 with MLL may be a cause of acute leukemia
Interactions
molecular events
General
phosphoprotein
rho guanine nucleotide exchange factor
Properties
SIZE: entity length = 1544 aa
MW = 173 kD
COMPARTMENT: cytoplasm
MOTIF: Ser phosphorylation site {S22}
Ser phosphorylation site {S41}
PDZ domain
NAME: PDZ domain
SITE: 72-151
coiled coil {194-262}
breakpoint {308-309}
Ser phosphorylation site {S341}
RGSL {367-558}
Ser phosphorylation site {S637}
Thr phosphorylation site {T736}
Dbl homology domain {787-977}
PH domain {1019-1132}
Thr phosphorylation site {T1286}
Ser phosphorylation site {S1288}
Ser phosphorylation site {S1327}
Database Correlations
OMIM 604763
UniProt Q9NZN5
PFAM correlations
Entrez Gene 23365
Kegg hsa:23365
References
- UniProt :accession Q9NZN5
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/LARGID243.html
Component-of
molecular complex