IFT88

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Intraflagellar transport 88
Identifiers
Symbols IFT88 ; D13S1056E; DAF19; TG737; TTC10; hTg737
External IDs OMIM600595 MGI98715 HomoloGene4761 GeneCards: IFT88 Gene
RNA expression pattern
PBB GE IFT88 204703 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8100 21821
Ensembl ENSG00000032742 ENSMUSG00000040040
UniProt Q13099 Q61371
RefSeq (mRNA) NM_006531 NM_009376
RefSeq (protein) NP_006522 NP_033402
Location (UCSC) Chr 13:
20.57 – 20.69 Mb
Chr 14:
57.42 – 57.52 Mb
PubMed search [1] [2]

Intraflagellar transport protein 88 homolog is a protein that in humans is encoded by the IFT88 gene.[1][2]

Function[edit]

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[edit]

IFT88 has been shown to interact with BAT2.[4]

References[edit]

  1. ^ Schrick JJ, Onuchic LF, Reeders ST, Korenberg J, Chen XN, Moyer JH, Wilkinson JE, Woychik RP (Sep 1995). "Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene". Hum. Mol. Genet. 4 (4): 559–67. doi:10.1093/hmg/4.4.559. PMID 7633404. 
  2. ^ a b "Entrez Gene: IFT88 intraflagellar transport 88 homolog (Chlamydomonas)". 
  3. ^ Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
  4. ^ Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM (Jan 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. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819. 

Further reading[edit]

  • Murcia NS, Sweeney WE, Avner ED (1999). "New insights into the molecular pathophysiology of polycystic kidney disease". Kidney Int. 55 (4): 1187–97. doi:10.1046/j.1523-1755.1999.00370.x. 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. doi:10.1126/science.8191288. 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. doi:10.1007/BF00539009. PMID 8597639. 
  • 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. doi:10.1038/sj.onc.1201535. 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. doi:10.1002/hep.510300325. PMID 10462374. 
  • 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. doi:10.1091/mbc.12.3.589. PMC 30966. 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. doi:10.1038/88107. PMID 11329013. 
  • 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. doi:10.1016/S0888-7543(03)00235-0. 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. doi:10.1074/jbc.M505827200. PMC 1249479. 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. doi:10.1242/jcs.03366. PMID 17264151.