Disease-gene associations mined from literature

Literature associating FKBP1A and subependymal giant cell astrocytoma

FKBP1A [ENSP00000383003]

Peptidyl-prolyl cis-trans isomerase FKBP1A; 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 activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. ECO:0000269|PubMed:1696686, ECO:0000269|PubMed:1701173,; Belongs to the FKBP-type PPIase family. FKBP1 subfamily.

Synonyms:  FKBP1A,  FKBP1Ap,  hFKBP1A,  A0A087WTS4,  A0A087WZM5 ...

Linkouts:  STRING  Pharos  UniProt