IFT80

Protein-coding gene in the species Homo sapiens
IFT80
Identifiers
AliasesIFT80, ATD2, SRTD2, WDR56, intraflagellar transport 80, FAP167
External IDsOMIM: 611177; MGI: 1915509; HomoloGene: 12253; GeneCards: IFT80; OMA:IFT80 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for IFT80
Genomic location for IFT80
Band3q25.33Start160,256,986 bp[1]
End160,399,880 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for IFT80
Genomic location for IFT80
Band3|3 E1Start68,799,832 bp[2]
End68,911,903 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
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
SpeciesHumanMouse
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 MbChr 3: 68.8 – 68.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000068885 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)".
  6. ^ a b 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.

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. 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.



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