Entrez Summary: This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017].
UniProt Summary: Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase. {ECO:0000269|PubMed:15623505}.
Pfam DomainsGO Terms
Pfam Domains
Thioredoxin
GO Terms
thiol oxidase activity
peptidyl-cysteine oxidation
protein oxidation
platelet alpha granule membrane
protein disulfide isomerase activity
peptidyl-cysteine modification
cell redox homeostasis
platelet degranulation
cell surface
regulated exocytosis
exocytosis
peptidyl-amino acid modification
cellular homeostasis
endoplasmic reticulum membrane
oxidation-reduction process
secretion by cell
export from cell
secretion
homeostatic process
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)