IFT88
| IFT88 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
| View/Edit Human | View/Edit Mouse |
Intraflagellar transport protein 88 homolog is a protein that is encoded by the IFT88 gene.[5][6]
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.adenoviral mediated gene therapy.[7]
Interactions
IFT88 has been shown to
interact with BAT2 and WDR62.[8][9] WDR62 is required for IFT88 localization to the cilia basal body and the cilia axoneme. [10]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000032742 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040040 – 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.
- PMID 7633404.
- ^ a b "Entrez Gene: IFT88 intraflagellar transport 88 homolog (Chlamydomonas)".
- ^ Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
- PMID 14667819.
- PMID 31816041.
- PMID 31816041.
Further reading
- Murcia NS, Sweeney WE, Avner ED (1999). "New insights into the molecular pathophysiology of polycystic kidney disease". Kidney Int. 55 (4): 1187–97. PMID 10200981.
- Moyer JH, Lee-Tischler MJ, Kwon HY, Schrick JJ, Avner ED, Sweeney WE, Godfrey VL, Cacheiro NL, Wilkinson JE, Woychik RP (1994). "Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice". Science. 264 (5163): 1329–33. PMID 8191288.
- Onuchic LF, Schrick JJ, Ma J, Hudson T, Guay-Woodford LM, Zerres K, Woychik RP, Reeders ST (1995). "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. S2CID 22176962.
- Isfort RJ, Cody DB, Doersen CJ, Richards WG, Yoder BK, Wilkinson JE, Kier LD, Jirtle RL, Isenberg JS, Klounig JE, Woychik RP (1997). "The tetratricopeptide repeat containing Tg737 gene is a liver neoplasia tumor suppressor gene". Oncogene. 15 (15): 1797–803. PMID 9362446.
- Bonura C, Paterlini-Brechot P, Brechot C (1999). "Structure and expression of Tg737, a putative tumor suppressor gene, in human hepatocellular carcinomas". Hepatology. 30 (3): 677–81. S2CID 29408388.
- Taulman PD, Haycraft CJ, Balkovetz DF, Yoder BK (2001). "Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia". Mol. Biol. Cell. 12 (3): 589–99. PMID 11251073.
- Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L, Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J, Ducar M (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. S2CID 25064683.
- Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM (2004). "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. PMID 14667819.
- Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M, Wright AF, Margolis B, Williams DS, Swaroop A (2005). "RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins". J. Biol. Chem. 280 (39): 33580–7. PMID 16043481.
- Robert A, Margall-Ducos G, Guidotti JE, Brégerie O, Celati C, Bréchot C, Desdouets C (2007). "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. PMID 17264151.
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