IFT80

IFT80
Identifiers
Aliases	IFT80, ATD2, SRTD2, WDR56, intraflagellar transport 80, FAP167
External IDs	OMIM: 611177; MGI: 1915509; HomoloGene: 12253; GeneCards: IFT80; OMA:IFT80 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	160,399,880 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	68,911,903 bp
RNA expression pattern
	Top expressed in
	epithelium of colon; ; endothelial cell; ; bronchial epithelial cell; ; mucosa of paranasal sinus; ; Brodmann area 23; ; corpus callosum; ; germinal epithelium; ; external globus pallidus; ; visceral pleura; ; Brodmann area 46;
	Top expressed in
	spermatocyte; ; olfactory epithelium; ; spermatid; ; interventricular septum; ; Epithelium of choroid plexus; ; thymus; ; pituitary gland; ; seminiferous tubule; ; neural layer of retina; ; pineal gland;
	More reference expression data
	n/a
Gene ontology
Molecular function	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 assembly; 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
	57560
	68259
	ENSG00000068885
	ENSMUSG00000027778
	Q9P2H3
	Q8K057
	NM_020800; NM_001190241; NM_001190242
	NM_026641
	NP_001177170; NP_001177171; NP_065851
	NP_080917
	Wikidata
View/Edit Human	View/Edit Mouse

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]

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 2 3 GRCh38: Ensembl release 89: ENSG00000068885 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027778 – 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.
1 2 "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)".
1 2 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. S2CID 8920064.

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. Bibcode:2006Natur.440.1194M. 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. Bibcode:2002PNAS...9916899M. 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.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000068885 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)".

[pmid17468754-6] 1 2 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. S2CID 8920064.

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v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBSome BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

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IFT80

Function

Clinical significance

References

Further reading