MGP Database

MGP001083

Record overview

MGPD IDMGP001083
Gene ID2280
SpeciesHomo sapiens (Human)
Gene NameFK506 binding protein 1A, 12kDa
Gene Symbol FKBP1A
SynonymsFKBP1; PKC12; PKCI2; FKBP12; PPIASE; FKBP-12; FKBP-1A;
Alternate namespeptidyl-prolyl cis-trans isomerase FKBP1A; 12 kDa FK506-binding protein; 12 kDa FKBP; FK506 binding protein12; FK506-binding protein 1; FK506-binding protein 12; FK506-binding protein 1A (12kD); FK506-binding protein, T-cell, 12-kD; FKBP12-Exip3; PPIase FKBP1A; calstabin 1; calstabin-1; immunophilin FKBP12; protein kinase C inhibitor 2; rotamase;
Chromosome20
Map Location20p13
EC Number5.2.1.8
SummaryThe protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]
OrthologsView orthologs and multiple alignments for FKBP1A

Proteins

peptidyl-prolyl cis-trans isomerase FKBP1A isoform a
Refseq ID:NP_463460
Protein GI:17149836
UniProt ID:P62942
mRNA ID:NM_054014
Length:108
RefSeq Status:
MGVQVETISPGDGRTFPKRGQTCVVHYTGMLEDGKKFDSSRDRNKPFKFMLGKQEVIRGWEEGVAQMSVGQRAKLTISPDYAYGATGHPGIIPPHATLVF
DVELLKLE
 
peptidyl-prolyl cis-trans isomerase FKBP1A isoform a
Refseq ID:NP_000792
Protein GI:4503725
UniProt ID:P62942
mRNA ID:NM_000801
Length:108
RefSeq Status:
Protein sequence is identical to GI:17149836 (mRNA isoform)
 
peptidyl-prolyl cis-trans isomerase FKBP1A isoform b
Refseq ID:NP_001186715
Protein GI:315139020
UniProt ID:
mRNA ID:NM_001199786
Length:97
RefSeq Status:
MGVQVETISPGDGRTFPKRGQTCVVHYTDECGSESQTDYISRLCLWCHWAPRHHPTTCHSRLRCGASKTGMTGMASSLSSLFLDLPWRDLVPPDMCT
 
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