Name | Ras association (RalGDS/AF-6) domain family 1 |
Symbol | RASSF1 |
Aliases | 123F2; RDA32; NORE2A; RASSF1A; REH3P21; tumor suppressor protein RDA32; Ras association domain family protein 1; cardiac-specific ras association domain family 1 protein; pancreas-specific ras association domain family 1 protein |
Gene Product | - Ras association domain family 1 isoform D
- Ras association domain family 1 isoform A
- Ras association domain family 1 isoform E
- Ras association domain family 1 iosform G
- Ras association domain family 1 isoform B
- Ras association domain family 1 isoform F
- Ras association domain family 1 isoform C
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Category | |
UniGene |
Hs.26931
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Reference Sequence |
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OMIM and SNP |
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Locus |
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Summary | This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Seven alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. |
Gene Ontology | |
Expression | EST (171 ESTs, 96 libraries) |
Tissue | Breadth ? |
CPM ? |
blood | | | bone | | | bone marrow | | | brain | | | cervix | | | colon | | | esophagus | | | eye | | | head and neck | | | heart | | | kidney | | | liver | | | lung | | | lymph node | | | mammary gland | | | muscle | | | nervous | | | ovary | | | pancreas | | | placenta | | | prostate | | | skin | | | stomach | | | testis | | | uncharacterized tissue | | | uterus | | | whole body | | |
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SAGE (3660461 tags, 71 libraries) |
Tissue | Breadth ? |
CPM ? |
brain | | | colon | | | eye | | | lung | | | mammary gland | | | mesothelial tissue | | | ovary | | | pancreas | | | prostate | | | stomach | | | uncharacterized tissue | | | vascular | | |
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Evidence | CpG Methylation in Kidney Neoplasms
- Yoon JH, Dammann R, Pfeifer GP, Yoon JH, Dammann R, Pfeifer GP Hypermethylation of the CpG island of the RASSF1A gene in ovarian andrenal cell carcinomas. Int J Cancer 2001 Oct 15;94(2):212-7.
- Morrissey C, Martinez A, Zatyka M, Agathanggelou A, Honorio S, Astuti D, Morgan NV, Moch H, Richards FM, Kishida T, Yao M, Schraml P, Latif F, Maher ER Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene inboth clear cell and papillary renal cell carcinoma. Cancer Res 2001 Oct 1;61(19):7277-81.
- Dreijerink K, Braga E, Kuzmin I, Geil L, Duh FM, Angeloni D, Zbar B, Lerman MI, Stanbridge EJ, Minna JD, Protopopov A, Li J, Kashuba V, Klein G, Zabarovsky ER The candidate tumor suppressor gene, RASSF1A, from human chromosome 3p21.3is involved in kidney tumorigenesis. Proc Natl Acad Sci U S A 2001 Jun 19;98(13):7504-9. Epub 2001 Jun 5.
Other key publications related to this gene
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