| Tafazzin | |
|---|---|
| Identifiers | |
| Symbol | TAZ |
| InterPro | IPR000872 |
| Membranome | 459 |
Tafazzin is a protein that in humans is encoded by the TAFAZZIN gene.[5] Tafazzin is highly expressed in cardiac and skeletal muscle, and functions as a phospholipid-lysophospholipid transacylase (it belongs to phospholipid:diacylglycerol acyltransferases).[6][7] It catalyzes remodeling of immature cardiolipin to its mature composition containing a predominance of tetralinoleoyl moieties.[8] Several different isoforms of the tafazzin protein are produced from the TAFAZZIN gene. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. Most isoforms are found in all tissues, but some are found only in certain types of cells.[9][5] Mutations in the TAFAZZIN gene have been associated with mitochondrial deficiency, Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, left ventricular noncompaction (LVNC), breast cancer, papillary thyroid carcinoma, non-small cell lung cancer, glioma, gastric cancer, thyroid neoplasms, and rectal cancer.[5][10][11][12]
It is important to note that the TAZ gene was frequently confused with a protein called TAZ (transcriptional coactivator with PDZ-binding motif, a 50 kDA protein). which is a part of the Hippo pathway and entirely unrelated to the gene of interest. The Hippo pathway TAZ protein has an official gene symbol of WWTR1.
- ^ a b c GRCh38: Ensembl release 89: ENSG00000102125 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000009995 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase [ Homo sapiens (human) ]".
This article incorporates text from this source, which is in the public domain.
- ^ Xu Y, Zhang S, Malhotra A, Edelman-Novemsky I, Ma J, Kruppa A, et al. (October 2009). "Characterization of tafazzin splice variants from humans and fruit flies". The Journal of Biological Chemistry. 284 (42): 29230–9. doi:10.1074/jbc.M109.016642. PMC 2781466. PMID 19700766.
- ^ Xu Y, Malhotra A, Ren M, Schlame M (December 2006). "The enzymatic function of tafazzin". The Journal of Biological Chemistry. 281 (51): 39217–24. doi:10.1074/jbc.M606100200. PMID 17082194.
- ^ Acehan D, Vaz F, Houtkooper RH, James J, Moore V, Tokunaga C, et al. (January 2011). "Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome". The Journal of Biological Chemistry. 286 (2): 899–908. doi:10.1074/jbc.M110.171439. PMC 3020775. PMID 21068380.
- ^ "TAZ". Genetics Home Reference. NCBI. This article incorporates text from this source, which is in the public domain.
- ^ Huang W, Lv X, Liu C, Zha Z, Zhang H, Jiang Y, et al. (July 2012). "The N-terminal phosphodegron targets TAZ/WWTR1 protein for SCFβ-TrCP-dependent degradation in response to phosphatidylinositol 3-kinase inhibition". The Journal of Biological Chemistry. 287 (31): 26245–53. doi:10.1074/jbc.M112.382036. PMC 3406709. PMID 22692215.
- ^ Ge L, Li DS, Chen F, Feng JD, Li B, Wang TJ (July 2017). "TAZ overexpression is associated with epithelial-mesenchymal transition in cisplatin-resistant gastric cancer cells". International Journal of Oncology. 51 (1): 307–315. doi:10.3892/ijo.2017.3998. PMID 28534974.
- ^ Chen M, Zhang Y, Zheng PS (2017). "Tafazzin (TAZ) promotes the tumorigenicity of cervical cancer cells and inhibits apoptosis". PLOS ONE. 12 (5): e0177171. Bibcode:2017PLoSO..1277171C. doi:10.1371/journal.pone.0177171. PMC 5425199. PMID 28489874.
