UniProt Protein Function: | FKBP10: PPIases accelerate the folding of proteins during protein synthesis. Defects in FKBP10 are the cause of osteogenesis imperfecta type 6 (OI6). OI6 is a moderate to severe, autosomal recessive form of osteogenesis imperfecta characterized by increased serum alkaline phosphatase levels and bone histology exhibiting a fish scale-like lamellar pattern. Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. |
UniProt Protein Details: | Protein type:Isomerase; EC 5.2.1.8 Chromosomal Location of Human Ortholog: 17q21.2 Cellular Component: endoplasmic reticulum membrane Molecular Function:FK506 binding; peptidyl-prolyl cis-trans isomerase activity Disease: Bruck Syndrome 1; Osteogenesis Imperfecta, Type Xi |
NCBI Summary: | The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009] |
UniProt Code: | Q96AY3 |
NCBI GenInfo Identifier: | 23396594 |
NCBI Gene ID: | 60681 |
NCBI Accession: | Q96AY3.1 |
UniProt Secondary Accession: | Q96AY3,Q7Z3R4, Q9H3N3, Q9H6J3, Q9H6N5, Q9UF89, |
UniProt Related Accession: | Q96AY3 |
Molecular Weight: | 38,950 Da |
NCBI Full Name: | Peptidyl-prolyl cis-trans isomerase FKBP10 |
NCBI Synonym Full Names: | FK506 binding protein 10 |
NCBI Official Symbol: | FKBP10 |
NCBI Official Synonym Symbols: | OI6; OI11; BRKS1; FKBP65; PPIASE; hFKBP65 |
NCBI Protein Information: | peptidyl-prolyl cis-trans isomerase FKBP10 |
UniProt Protein Name: | Peptidyl-prolyl cis-trans isomerase FKBP10 |
UniProt Synonym Protein Names: | 65 kDa FK506-binding protein; 65 kDa FKBP; FKBP-65; FK506-binding protein 10; FKBP-10; Immunophilin FKBP65; Rotamase |
Protein Family: | Peptidyl-prolyl cis-trans isomerase |
UniProt Gene Name: | FKBP10 |
UniProt Entry Name: | FKB10_HUMAN |