FKBP1A (FKBP prolyl isomerase 1A)

2008-07-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
FKBP-12,FKBP-1A,FKBP1,FKBP12,PKC12,PKCI2,PPIASE
FUSION GENES

Other Information

Locus ID:

NCBI: 2280
MIM: 186945
HGNC: 3711
Ensembl: ENSG00000088832

Variants:

dbSNP: 2280
ClinVar: 2280
TCGA: ENSG00000088832
COSMIC: FKBP1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088832ENST00000381715Q5W0X3
ENSG00000088832ENST00000381719P62942
ENSG00000088832ENST00000381724Q5W0X3
ENSG00000088832ENST00000400137P62942
ENSG00000088832ENST00000439640Q1JUQ5
ENSG00000088832ENST00000612074Q1JUQ3
ENSG00000088832ENST00000614856A0A087WZM5
ENSG00000088832ENST00000618612A0A087WTS4

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by TGF-beta Receptor Complex in CancerREACTOMER-HSA-3304351
Loss of Function of TGFBR2 in CancerREACTOMER-HSA-3642278
TGFBR2 Kinase Domain Mutants in CancerREACTOMER-HSA-3645790
Loss of Function of TGFBR1 in CancerREACTOMER-HSA-3656534
TGFBR1 LBD Mutants in CancerREACTOMER-HSA-3656535
TGFBR1 KD Mutants in CancerREACTOMER-HSA-3656532
Signal TransductionREACTOMER-HSA-162582
Signaling by TGF-beta Receptor ComplexREACTOMER-HSA-170834
TGF-beta receptor signaling activates SMADsREACTOMER-HSA-2173789
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)REACTOMER-HSA-2173791

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
184137632008A new pharmacologic action of CCI-779 involves FKBP12-independent inhibition of mTOR kinase activity and profound repression of global protein synthesis.36
159928232005Effects of pH, salt, and macromolecular crowding on the stability of FK506-binding protein: an integrated experimental and theoretical study.31
167207242006FKBP12 functions as an adaptor of the Smad7-Smurf1 complex on activin type I receptor.24
173978672007Insertion of a chaperone domain converts FKBP12 into a powerful catalyst of protein folding.18
164103432006The aggregation of alpha-synuclein is stimulated by FK506 binding proteins as shown by fluorescence correlation spectroscopy.16
128501522003Osmolyte effects on kinetics of FKBP12 C22A folding coupled with prolyl isomerization.13
178724632007Overexpression of FK-506 binding protein 12.0 modulates excitation contraction coupling in adult rabbit ventricular cardiomyocytes.13
126002032003Energetic and structural analysis of the role of tryptophan 59 in FKBP12.12
194140592009A peptidyl-prolyl isomerase, FKBP12, accumulates in Alzheimer neurofibrillary tangles.12

Citation

Dessen P

FKBP1A (FKBP prolyl isomerase 1A)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50277/fkbp1a