IFT88

Protein-coding gene in the species Homo sapiens
IFT88
Identifiers
AliasesIFT88, D13S1056E, DAF19, TG737, TTC10, hTg737, intraflagellar transport 88
External IDsOMIM: 600595; MGI: 98715; HomoloGene: 4761; GeneCards: IFT88; OMA:IFT88 - orthologs
Gene location (Human)
Chromosome 13 (human)
Chr.Chromosome 13 (human)[1]
Chromosome 13 (human)
Genomic location for IFT88
Genomic location for IFT88
Band13q12.11Start20,567,138 bp[1]
End20,691,444 bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for IFT88
Genomic location for IFT88
Band14 C3|14 30.1 cMStart57,661,519 bp[2]
End57,755,393 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 14: 57.66 – 57.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[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. ^ a b c GRCh38: Ensembl release 89: ENSG00000032742 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


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