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Rho guanine nucleotide exchange factor 6; alpha-Pix; COOL-2; PAK-interacting exchange factor alpha; Rac/Cdc42 guanine nucleotide exchange factor 6 (ARHGEF6, COOL2, KIAA0006, PIXA)
Function:
- acts as a RAC1 guanine nucleotide exchange factor (GEF)
- interacts with PAK kinases through the SH3 domain
- interacts with GIT1
- component of cytoplasmic complexes, which also contain PXN, GIT1 & PAK1 (putative)
Structure:
- contains 1 CH (calponin-homology) domain
- contains 1 DH (DBL-homology) domain
- contains 1 PH domain
- contains 1 SH3 domain
Alternative splicing: named isoforms=2
Expression: ubiquitous
Pathology:
- defects in ARHGEF6 are the cause of mental retardation X-linked type 46
General
phosphoprotein
rho guanine nucleotide exchange factor
Properties
SIZE: entity length = 776 aa
MW = 87 kD
COMPARTMENT: cell nucleus
MOTIF: calponin homology domain
NAME: calponin homology domain
SITE: 1-110
Ser phosphorylation site {S122}
Ser phosphorylation site {S126}
Ser phosphorylation site {S144}
Ser phosphorylation site {S150}
src homology 3 [SH3] domain
SITE: 160-219
MOTIF: Tyr phosphorylation site {Y188}
Ser phosphorylation site {S225}
Dbl homology domain {241-421}
PH domain {443-548}
MOTIF: Ser phosphorylation site {S488}
Ser phosphorylation site {S640}
Thr phosphorylation site {T650}
Ser phosphorylation site {S684}
Database Correlations
OMIM correlations
UniProt Q15052
PFAM correlations
Entrez Gene 9459
Kegg hsa:9459
References
- UniProt :accession Q15052
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ARHGEF6