ⓘ DIRAS3 (gene)

                                     

ⓘ DIRAS3 (gene)

GTP-binding protein Di-Ras3 also known as aplysia ras homology member I is a protein that in humans is encoded by the DIRAS3 gene.

This gene is a member of the RAS superfamily and is expressed in normal ovarian and breast epithelial cells, but not in the ovaries and mammary glands. It is a maternally imprinted gene, with monoallelic expression of the paternal allele, which is associated with growth suppression. Thus, this gene seems to be the intended gene is a tumor suppressor whose function is abrogated in ovarian and mammary glands.

DIRAS3 is associated with breast cancer, and ovarian cancer. DIRAS3 gene consists of one promoter, two exons and one intron with a 687 BP protein-coding region, which encodes a 26-KDA protein. In DIRAS3 protein-GTP-Aza belonging to the RAS superfamily and shares 50-60% homology with RAS and RAP, two other small GTP-binding proteins. The reduced expression of DIRAS3 was registered in 70% of cases of invasive breast cancer.

                                     
  • facial expression DIRAS3 is a paternally expressed and maternally imprinted gene located on chromosome 1 in humans. Reduced DIRAS3 expression is linked
  • called deficiency of the interleukin - 1 receptor antagonist DIRA Variants of the IL1RN gene is also associated with risk of schizophrenia. Elevated levels
  • However, there are many other members of this subfamily as well: DIRAS 1 DIRAS 2 DIRAS3 ERAS GEM MRAS NKIRAS1 NKIRAS2 NRAS RALA RALB RAP1A RAP1B
  • DEPDC1 encoding protein DEP domain containing 1 DIRAS3 1p31 DIRAS family, GTP - binding RAS - like 3 DPH5: Diphthine synthase DVL1 1p36 ENO1 1p36
  • from a mutation in the CIAS1 gene also known as NLRP 3 gene which helps control inflammation. Mutations in this gene also cause familial cold urticaria
  • Statistics download files www.genenames.org. HUGO Gene Nomenclature Committee. 27 January 2020. Retrieved 27 January 2020.