IFT88

IFT88
Identifiers
Aliases	IFT88 , D13S1056E, DAF19, TG737, TTC10, hTg737, intraflagellar transport 88
External IDs	OMIM: 600595; MGI: 98715; HomoloGene: 4761; GeneCards: IFT88; OMA:IFT88 - orthologs
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q12.11 Start 20,567,138 bp [1] End 20,691,444 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14 C3|14 30.1 cM Start 57,661,519 bp [2] End 57,755,393 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell sperm left testis right testis right uterine tube mucosa of paranasal sinus caput epididymis tibia Achilles tendon testicle Top expressed in spermatocyte Ileal epithelium lactiferous gland choroid plexus of fourth ventricle perirhinal cortex entorhinal cortex spermatid CA3 field tail of embryo tracheobronchial tree More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding kinesin binding Cellular component intraciliary transport particle B cytoplasm cell projection ciliary tip motile cilium cytoskeleton centriole cilium ciliary basal body centrosome sperm flagellum ciliary base non-motile cilium microtubule organizing center Biological process regulation of cilium assembly regulation of autophagosome assembly cilium assembly cell projection organization intraciliary transport involved in cilium assembly kidney development inner ear receptor cell stereocilium organization non-motile cilium assembly intraciliary transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8100 21821 Ensembl ENSG00000032742 ENSMUSG00000040040 UniProt Q13099 Q61371 RefSeq (mRNA) NM_006531 NM_175605 NM_001318491 NM_001318493 NM_001353565 NM_001353566 NM_001353567 NM_001353568 NM_001353569 NM_001353570 NM_001353571 NM_001353572 NM_001353573 NM_001353574 NM_001353575 NM_001353576 NM_001353577 NM_001353578 NM_001353579 NM_009376 RefSeq (protein) NP_001305420 NP_001305422 NP_006522 NP_783195 NP_001340494 NP_001340495 NP_001340496 NP_001340497 NP_001340498 NP_001340499 NP_001340500 NP_001340501 NP_001340502 NP_001340503 NP_001340504 NP_001340505 NP_001340506 NP_001340507 NP_001340508 NP_033402 NP_001391322 NP_001391323 NP_001391324 NP_001391325 NP_001391326 Location (UCSC) Chr 13: 20.57 – 20.69 Mb Chr 14: 57.66 – 57.76 Mb PubMed search [3] [4]
Wikidata
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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. ^[6] 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. ^[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

1. GRCh38: Ensembl release 89: ENSG00000032742 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040040 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: IFT88 intraflagellar transport 88 homolog (Chlamydomonas)".
7. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
8. 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.
9. Shohayeb, B, et al. (January 2020). "The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development". Hum. Mol. Genet. 29 (2): 248–263. doi: 10.1093/hmg/ddz281 . PMID   31816041.
10. Shohayeb, B, et al. (January 2020). "The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development". Hum. Mol. Genet. 29 (2): 248–263. doi: 10.1093/hmg/ddz281 . 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. 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. Bibcode:1994Sci...264.1329M. 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. 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. 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. 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. 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. 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. 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.