Human Gene IFT80 (uc021xgq.1) Description and Page Index
Description: Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA. RefSeq Summary (NM_020800): The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]. Transcript (Including UTRs) Position: hg19 chr3:159,974,774-160,117,320 Size: 142,547 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr3:159,976,313-160,102,388 Size: 126,076 Coding Exon Count: 19
ID:IFT80_HUMAN DESCRIPTION: RecName: Full=Intraflagellar transport protein 80 homolog; AltName: Full=WD repeat-containing protein 56; FUNCTION: Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia. SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Note=Basal body and ciliary axoneme (By similarity). DISEASE: Defects in IFT80 are the cause of asphyxiating thoracic dystrophy type 2 (ATD2) [MIM:611263]. An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. SIMILARITY: Contains 7 WD repeats.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9P2H3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.