Aliases for ERP44 Gene
External Ids for ERP44 Gene
Previous HGNC Symbols for ERP44 Gene
Previous GeneCards Identifiers for ERP44 Gene
This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]
GeneCards Summary for ERP44 Gene
ERP44 (Endoplasmic Reticulum Protein 44) is a Protein Coding gene. Diseases associated with ERP44 include Multiple Sulfatase Deficiency and Heavy Chain Disease. Among its related pathways are Translational Control and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein disulfide isomerase activity. An important paralog of this gene is PDIA4.
UniProtKB/Swiss-Prot Summary for ERP44 Gene
Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum.