Gene Gene information from NCBI Gene database.
Entrez ID 2280
Gene name FKBP prolyl isomerase 1A
Gene symbol FKBP1A
Synonyms (NCBI Gene)
FKBP-12FKBP-1AFKBP1FKBP12PKC12PKCI2PPIASE
Chromosome 20
Chromosome location 20p13
Summary The 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 immun
miRNA miRNA information provided by mirtarbase database.
1011
miRTarBase ID miRNA Experiments Reference
MIRT019913 hsa-miR-375 Microarray 20215506
MIRT027184 hsa-miR-103a-3p Sequencing 20371350
MIRT049043 hsa-miR-92a-3p CLASH 23622248
MIRT046994 hsa-miR-218-5p CLASH 23622248
MIRT044667 hsa-miR-320a CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0003007 Process Heart morphogenesis ISS
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IBA
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IDA 1696686, 1701173, 2477715
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IEA
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity TAS 11322937
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
186945 3711 ENSG00000088832
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62942
Protein name Peptidyl-prolyl cis-trans isomerase FKBP1A (PPIase FKBP1A) (EC 5.2.1.8) (12 kDa FK506-binding protein) (12 kDa FKBP) (FKBP-12) (Calstabin-1) (FK506-binding protein 1A) (FKBP-1A) (Immunophilin FKBP12) (Rotamase)
Protein function Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the act
PDB 1A7X , 1B6C , 1BKF , 1BL4 , 1D6O , 1D7H , 1D7I , 1D7J , 1EYM , 1F40 , 1FAP , 1FKB , 1FKD , 1FKF , 1FKG , 1FKH , 1FKI , 1FKJ , 1FKR , 1FKS , 1FKT , 1J4H , 1J4I , 1J4R , 1NSG , 1QPF , 1QPL , 2DG3 , 2DG4 , 2DG9 , 2FAP , 2FKE , 2ND5 , 2PPN , 2PPO , 2PPP , 2RSE , 3FAP , 3H9R , 3MDY , 4DH0 , 4FAP , 4IPX , 4N19 , 4ODP , 4ODQ , 4ODR , 5I7P , 5I7Q , 6I1S , 6M4U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00254 FKBP_C 13 105 FKBP-type peptidyl-prolyl cis-trans isomerase Domain
Sequence
Sequence length 108
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    TGF-beta receptor signaling activates SMADs
TGFBR1 LBD Mutants in Cancer
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ESOPHAGEAL SQUAMOUS CELL CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 30386171
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 10077670
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 28413214 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30499712
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 10433096
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 11356237
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21673995, 28937754, 29109782, 31428819
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31428819, 37484811 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34691238 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36361587 Stimulate
★☆☆☆☆
Found in Text Mining only