GeneID: 277

Names

Common Name:	DOCK1	Type:	Gene
Chromosome:	10 (NC_000010.11)	Locus:	NG_033919.2 (DOCK1)
HUGO Symbol:	DOCK1	Full Name:	dedicator of cytokinesis 1
Exons:	52	Introns:	51

Description:
DOCK1 belongs to the family of DOCK (dedicator of cytokinesis) guanine nucleotide exchange factors (GEFs, exchange GDP for GTP) that activate small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Rac GTPases play important roles in erythropoiesis and are vital for the stability, plasticity, and maintenance of the red blood cell membrane skeleton. Overexpression of this gene has been associated with certain cancers. A variation in DOCK1 associated with Hb F response to hydroxyurea in sickle cell disease cohorts.

Synonyms: ced5 , DOCK180

Comments:
N/A

Number of entries/variants: 1

External Links

NCBI Gene	UniProtKB
PDB	HGNC
OMIM

IthaScore

Sequence Viewer

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Publications / Origin

Heasman SJ, Ridley AJ, Mammalian Rho GTPases: new insights into their functions from in vivo studies., Nat. Rev. Mol. Cell Biol., 9(9), 690-701, 2008 PubMed
Konstantinidis DG, George A, Kalfa TA, Rac GTPases in erythroid biology., Transfus Clin Biol, 17(3), 126-30, 2010 PubMed
Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed

Created on 2019-09-25 12:38:03, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-09-25 12:38:03	The IthaGenes Curation Team	Created

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