IFT80

Intraflagellar transport protein 80 homolog (IFT80), also known as WD repeat-containing protein 56, is a protein that in humans is encoded by the IFT80 gene.[5][6]

IFT80
Identifiers
Aliases	IFT80, ATD2, SRTD2, WDR56, intraflagellar transport 80, FAP167
External IDs	OMIM: 611177 MGI: 1915509 HomoloGene: 12253 GeneCards: IFT80
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q25.33 Start 160,256,986 bp[1] End 160,399,880 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 E1 Start 68,892,499 bp[2] End 69,004,570 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • ciliary tip • cell projection • cytoskeleton • cilium • centrosome • intraciliary transport particle B Biological process • intraciliary transport involved in cilium assembly • cilium morphogenesis • osteoblast differentiation • chondrocyte differentiation • smoothened signaling pathway • positive regulation of smoothened signaling pathway • negative regulation of epithelial cell proliferation • bone morphogenesis • non-motile cilium assembly • negative regulation of non-canonical Wnt signaling pathway Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57560	68259
Ensembl	ENSG00000068885	ENSMUSG00000027778
UniProt	Q9P2H3	Q8K057
RefSeq (mRNA)	NM_020800 NM_001190241 NM_001190242	NM_026641
RefSeq (protein)	NP_001177170 NP_001177171 NP_065851	NP_080917
Location (UCSC)	Chr 3: 160.26 – 160.4 Mb	Chr 3: 68.89 – 69 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

IFT80 is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia.[5]

Clinical significance

Mutations in the IFT80 gene are associated with asphyxiating thoracic dysplasia.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000068885 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027778 - 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. "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)".
6. Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ (June 2007). "IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy". Nat. Genet. 39 (6): 727–9. doi:10.1038/ng2038. PMID 17468754.

Further reading

• Nakayama M, Kikuno R, Ohara O (2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
• Huang W, Kane JK, Li MD (2008). "Identification and characterization of a long isoform of human IFT80, IFT80-L". Biochem. Biophys. Res. Commun. 373 (4): 653–8. doi:10.1016/j.bbrc.2008.06.085. PMID 18601909.
• Muzny DM, Scherer SE, Kaul R, et al. (2006). "The DNA sequence, annotation and analysis of human chromosome 3". Nature. 440 (7088): 1194–8. doi:10.1038/nature04728. PMID 16641997.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Nagase T, Kikuno R, Ishikawa KI, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.