Biology:STARD8
 Generic protein structure example |
StAR-related lipid transfer domain protein 8 (STARD8) also known as deleted in liver cancer 3 protein (DLC-3) is a protein that in humans is encoded by the STARD8 gene[1][2] and is a member of the DLC family.
Structure and function
The protein is 1103 amino acids long, which like other DLC proteins consists of a sterile alpha motif (SAM), RhoGAP and a StAR-related lipid-transfer (START) domains.[3]
The protein is a Rho GTPase-activating protein (GAP), a type of protein that regulates members of the Rho family of GTPases. STARD8 is characterized as activating Rho GTPases. Its expression inhibits the growth of human breast and prostate cancer cells in culture.[3]
Tissue distribution and pathology
The protein is expressed in tissues throughout the body, but is absent or reduced in many kinds of tumor cells.[3]
While there are no known disorders caused by STARD8, partial loss of the STARD8 gene occurs in cases of craniofrontonasal syndrome where the EFNB1 gene (which causes the syndrome) is completely deleted.[4][5]
References
- ↑ "Entrez Gene: StAR-related lipid transfer (START) domain containing 8". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9754.
- ↑ "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research 3 (1): 17–24. Feb 1996. doi:10.1093/dnares/3.1.17. PMID 8724849.
- ↑ 3.0 3.1 3.2 "Deleted in liver cancer 3 (DLC-3), a novel Rho GTPase-activating protein, is downregulated in cancer and inhibits tumor cell growth". Oncogene 26 (31): 4580–9. Jul 2007. doi:10.1038/sj.onc.1210244. PMID 17297465.
- ↑ "The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males". American Journal of Human Genetics 78 (6): 999–1010. Jun 2006. doi:10.1086/504440. PMID 16685650.
- ↑ "Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome". Clinical Genetics 72 (6): 506–16. Dec 2007. doi:10.1111/j.1399-0004.2007.00905.x. PMID 17941886.
Further reading
- "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". American Journal of Human Genetics 85 (5): 628–42. Nov 2009. doi:10.1016/j.ajhg.2009.10.014. PMID 19913121.
- "Oncogenic inhibition by a deleted in liver cancer gene requires cooperation between tensin binding and Rho-specific GTPase-activating protein activities". Proceedings of the National Academy of Sciences of the United States of America 104 (21): 9012–7. May 2007. doi:10.1073/pnas.0703033104. PMID 17517630. Bibcode: 2007PNAS..104.9012Q.
- "The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males". American Journal of Human Genetics 78 (6): 999–1010. Jun 2006. doi:10.1086/504440. PMID 16685650.
- "START-GAP3/DLC3 is a GAP for RhoA and Cdc42 and is localized in focal adhesions regulating cell morphology". Biochemical and Biophysical Research Communications 364 (4): 783–9. Dec 2007. doi:10.1016/j.bbrc.2007.10.052. PMID 17976533.
- "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care 33 (10): 2250–3. Oct 2010. doi:10.2337/dc10-0452. PMID 20628086.
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