DIRAS3 (gene)

DIRAS3
Identifiers
Aliases	DIRAS3, ARHI, NOEY2, DIRAS family GTPase 3
External IDs	OMIM: 605193; HomoloGene: 48296; GeneCards: DIRAS3; OMA:DIRAS3 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	68,051,717 bp
RNA expression pattern
	Top expressed in
	anterior pituitary; ; hypothalamus; ; left ovary; ; nucleus accumbens; ; right ovary; ; oocyte; ; apex of heart; ; body of pancreas; ; germinal epithelium; ; right adrenal cortex;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; GTP binding; protein binding; GTPase activity; GDP binding;
Cellular component	plasma membrane; membrane; intracellular anatomical structure;
Biological process	regulation of gene expression by genetic imprinting; regulation of cyclin-dependent protein serine/threonine kinase activity; signal transduction; small GTPase mediated signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	9077
	n/a
	ENSG00000162595
	n/a
	O95661
	n/a
	NM_004675
	n/a
	NP_004666
	n/a
	Wikidata
View/Edit Human

GTP-binding protein Di-Ras3 (DIRAS3) also known as aplysia ras homology member I (ARHI) is a protein that in humans is encoded by the DIRAS3 gene.^[3]

This gene is a member of the Ras superfamily and is expressed in normal ovarian and breast epithelial cells but not in ovarian and breast cancers. It is a maternally imprinted gene, with monoallelic expression of the paternal allele, which is associated with growth suppression. Thus, this gene appears to be a putative tumor suppressor gene whose function is abrogated in ovarian and breast cancers.^[3]

DIRAS3 is linked to breast cancer as well as ovarian cancer. The DIRAS3 gene includes one promoter, two exons and one intron with a 687 bp protein-coding region that encodes a 26-kDa protein.^[4] The DIRAS3 protein is a GTPase belonging to the Ras superfamily and shares 50–60% homology with Ras and Rap, two other small GTP binding proteins.^[4] Reduced expression of DIRAS3 has been reported in 70% of invasive breast cancers.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162595 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: DIRAS family, GTP-binding RAS-like 3".
^ ^a ^b Yang J, Hu A, Wang L, Li B, Chen Y, Zhao W, Xu W, Li T (Jun 2009). "NOEY2 mutations in primary breast cancers and breast hyperplasia". Breast. 18 (3): 197–203. doi:10.1016/j.breast.2009.04.004. PMID 19482475.
^ Yuan J, Luo RZ, Fujii S, Wang L, Hu W, Andreeff M, Pan Y, Kadota M, Oshimura M, Sahin AA, Issa JP, Bast RC, Yu Y (Jul 2003). "Aberrant methylation and silencing of ARHI, an imprinted tumor suppressor gene in which the function is lost in breast cancers". Cancer Research. 63 (14): 4174–80. PMID 12874023.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162595 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-3] "Entrez Gene: DIRAS family, GTP-binding RAS-like 3".

[yang-4] Yang J, Hu A, Wang L, Li B, Chen Y, Zhao W, Xu W, Li T (Jun 2009). "NOEY2 mutations in primary breast cancers and breast hyperplasia". Breast. 18 (3): 197–203. doi:10.1016/j.breast.2009.04.004. PMID 19482475.

[yuan-5] Yuan J, Luo RZ, Fujii S, Wang L, Hu W, Andreeff M, Pan Y, Kadota M, Oshimura M, Sahin AA, Issa JP, Bast RC, Yu Y (Jul 2003). "Aberrant methylation and silencing of ARHI, an imprinted tumor suppressor gene in which the function is lost in breast cancers". Cancer Research. 63 (14): 4174–80. PMID 12874023.

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