Biology:IFT88
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Intraflagellar transport protein 88 homolog is a protein that is encoded by the IFT88 gene.[1][2]
Function
This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene.[2] In 2012 a mutation was found to be responsible for a novel form of ciliopathy and anosmia in humans capable of remedy in mice by adenoviral mediated gene therapy.[3]
Interactions
IFT88 has been shown to interact with BAT2 and WDR62.[4][5] WDR62 is required for IFT88 localization to the cilia basal body and the cilia axoneme. [6]
References
- ↑ "Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene". Hum. Mol. Genet. 4 (4): 559–67. Sep 1995. doi:10.1093/hmg/4.4.559. PMID 7633404.
- ↑ 2.0 2.1 "Entrez Gene: IFT88 intraflagellar transport 88 homolog (Chlamydomonas)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8100.
- ↑ Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
- ↑ "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics 83 (1): 153–67. Jan 2004. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819.
- ↑ "The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development". Hum. Mol. Genet. 29 (2): 248–263. January 2020. doi:10.1093/hmg/ddz281. PMID 31816041.
- ↑ "The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development". Hum. Mol. Genet. 29 (2): 248–263. January 2020. doi:10.1093/hmg/ddz281. PMID 31816041.
Further reading
- "New insights into the molecular pathophysiology of polycystic kidney disease". Kidney Int. 55 (4): 1187–97. 1999. doi:10.1046/j.1523-1755.1999.00370.x. PMID 10200981.
- "Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice". Science 264 (5163): 1329–33. 1994. doi:10.1126/science.8191288. PMID 8191288. Bibcode: 1994Sci...264.1329M. https://zenodo.org/record/1231247.
- "Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease". Mamm. Genome 6 (11): 805–8. 1995. doi:10.1007/BF00539009. PMID 8597639.
- "The tetratricopeptide repeat containing Tg737 gene is a liver neoplasia tumor suppressor gene". Oncogene 15 (15): 1797–803. 1997. doi:10.1038/sj.onc.1201535. PMID 9362446.
- "Structure and expression of Tg737, a putative tumor suppressor gene, in human hepatocellular carcinomas". Hepatology 30 (3): 677–81. 1999. doi:10.1002/hep.510300325. PMID 10462374.
- "Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia". Mol. Biol. Cell 12 (3): 589–99. 2001. doi:10.1091/mbc.12.3.589. PMID 11251073.
- "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. 2001. doi:10.1038/88107. PMID 11329013.
- "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics 83 (1): 153–67. 2004. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819.
- "RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins". J. Biol. Chem. 280 (39): 33580–7. 2005. doi:10.1074/jbc.M505827200. PMID 16043481.
- "The intraflagellar transport component IFT88/polaris is a centrosomal protein regulating G1-S transition in non-ciliated cells". J. Cell Sci. 120 (Pt 4): 628–37. 2007. doi:10.1242/jcs.03366. PMID 17264151.
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