Description: Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA. RefSeq Summary (NM_003602): The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Transcript (Including UTRs) Position: hg19 chr7:72,742,300-72,772,641 Size: 30,342 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr7:72,742,432-72,756,897 Size: 14,466 Coding Exon Count: 8
ID:FKBP6_HUMAN DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP6; Short=PPIase FKBP6; EC=5.2.1.8; AltName: Full=36 kDa FK506-binding protein; Short=36 kDa FKBP; Short=FKBP-36; AltName: Full=FK506-binding protein 6; Short=FKBP-6; AltName: Full=Immunophilin FKBP36; AltName: Full=Rotamase; FUNCTION: PPIases accelerate the folding of proteins. CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0). TISSUE SPECIFICITY: Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney. DISEASE: Note=FKBP6 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. SIMILARITY: Contains 1 PPIase FKBP-type domain. SIMILARITY: Contains 3 TPR repeats.
azoospermia Zhang, W. et al. 2005, [Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia], Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):3-Oct.
[PubMed 15696470]
278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population.
Hemoglobin A, Glycosylated Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes.
[PubMed 19875614]
A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
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 O75344
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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.