ARHGEF6

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
ARHGEF6
Protein ARHGEF6 PDB 1ujy.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ARHGEF6, COOL2, Cool-2, MRX46, PIXA, alpha-PIX, alphaPIX, Rac/Cdc42 guanine nucleotide exchange factor 6
External IDs MGI: 1920591 HomoloGene: 3561 GeneCards: ARHGEF6
Gene location (Human)
X chromosome (human)
Chr. X chromosome (human)[1]
X chromosome (human)
Genomic location for ARHGEF6
Genomic location for ARHGEF6
Band Xq26.3 Start 136,665,547 bp[1]
End 136,782,088 bp[1]
RNA expression pattern
PBB GE ARHGEF6 209539 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001306177
NM_004840

NM_152801
NM_001358573

RefSeq (protein)

NP_001293106
NP_004831

NP_690014
NP_001345502

Location (UCSC) Chr X: 136.67 – 136.78 Mb Chr X: 57.23 – 57.34 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Rho guanine nucleotide exchange factor 6 is a protein that, in humans, is encoded by the ARHGEF6 gene.[5][6][7]

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that catalyse the exchange of GDP for GTP in some Rho-family small GTPases. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000129675 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031133 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Nomura N, Nagase T, Miyajima N, Sazuka T, Tanaka A, Sato S, Seki N, Kawarabayasi Y, Ishikawa K, Tabata S (Dec 1995). "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1 (supplement)". DNA Res. 1 (5): 251–62. doi:10.1093/dnares/1.5.251. PMID 7584048. 
  6. ^ Manser E, Loo TH, Koh CG, Zhao ZS, Chen XQ, Tan L, Tan I, Leung T, Lim L (Jul 1998). "PAK kinases are directly coupled to the PIX family of nucleotide exchange factors". Mol Cell. 1 (2): 183–92. doi:10.1016/S1097-2765(00)80019-2. PMID 9659915. 
  7. ^ a b "Entrez Gene: ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6". 

External links[edit]

Further reading[edit]