Description: Homo sapiens intraflagellar transport 81 homolog (Chlamydomonas) (IFT81), transcript variant 3, mRNA. RefSeq Summary (NM_001143779): The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]. Transcript (Including UTRs) Position: hg19 chr12:110,562,140-110,656,600 Size: 94,461 Total Exon Count: 19 Strand: + Coding Region Position: hg19 chr12:110,565,186-110,656,031 Size: 90,846 Coding Exon Count: 18
ID:IFT81_HUMAN DESCRIPTION: RecName: Full=Intraflagellar transport protein 81 homolog; AltName: Full=Carnitine deficiency-associated protein expressed in ventricle 1; Short=CDV-1; FUNCTION: Isoform CDV-1 may be involved in cardiac hypertrophy caused by carnitine deficiency (By similarity). FUNCTION: Isoform CDV-1R appears to play a role in development of the testis and spermatogenesis (By similarity). TISSUE SPECIFICITY: Highly expressed in testis, moderately in ovary, heart, liver, skeletal muscle, kidney and pancreas, low in prostate, brain, placenta and lung and not detected in spleen, thymus, small intestine and colon. Isoform CDV-1R is abundantly expressed in testis.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): IFT81 CDC HuGE Published Literature: IFT81 Positive Disease Associations: Alpha-Globulins Related Studies:
Alpha-Globulins David Melzer et al. PLoS genetics 2008, A genome-wide association study identifies protein quantitative trait loci (pQTLs)., PLoS genetics.
[PubMed 18464913]
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.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q8WYA0
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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.
US Server
