Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2280
Gene name Gene Name - the full gene name approved by the HGNC.
FKBP prolyl isomerase 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FKBP1A
Synonyms (NCBI Gene) Gene synonyms aliases
FKBP-12, FKBP-1A, FKBP1, FKBP12, PKC12, PKCI2, PPIASE
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000413 Process Protein peptidyl-prolyl isomerization IBA 21873635
GO:0000413 Process Protein peptidyl-prolyl isomerization IDA 1696686
GO:0003007 Process Heart morphogenesis ISS
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IBA 21873635
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IDA 1696686, 1701173, 2477715
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
186945 3711 ENSG00000088832
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Esophagus neoplasm Esophageal Neoplasms, Squamous cell carcinoma of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 22960999, 21517111
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35029906
Arthritis Rheumatoid Associate 28413214
Breast Neoplasms Associate 31428819, 37484811
Carcinoma Hepatocellular Associate 34691238
Carcinoma Hepatocellular Stimulate 36361587
Diffuse Neurofibrillary Tangles with Calcification Associate 36724228
Essential Tremor Associate 37335342
Glioblastoma Inhibit 36499275
Lymphoma T Cell Associate 15656903
Myositis Ossificans Associate 30417373