PDIA6 geeni (2p25.1) ja sen koodaaman proteiinin piirteitä

https://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA6&keywords=PDIA6

Aliases for PDIA6 Gene

• GeneCards Symbol: PDIA6 ²
• Protein Disulfide Isomerase Family A Member 6 ^{2 3 5}
• ERp5 ^{2 3 4 5}
• P5 ^{2 3 4 5}
• TXNDC7 ^{3 4 5}
• Thioredoxin Domain Containing 7 (Protein Disulfide Isomerase)
•  

• 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 encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

GeneCards Summary for PDIA6 Gene

PDIA6 (Protein Disulfide Isomerase Family A Member 6) is a Protein Coding gene. Diseases associated with PDIA6 include Glioblastoma and Cystic Fibrosis. Among its related pathways are Unfolded Protein Response (UPR) and Cellular responses to stimuli. Gene Ontology (GO) annotations related to this gene include isomerase activity and protein disulfide isomerase activity. An important paralog of this gene is P4HB.

UniProtKB/Swiss-Prot Summary for PDIA6 Gene

May function as a chaperone that inhibits aggregation of misfolded proteins (PubMed:12204115). Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1 (Alias IRE1) , which in turn inactivates ERN1 signaling (PubMed:24508390). May also regulate the UPR via the EIF2AK3 UPR sensor (PubMed:24508390). Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin (PubMed:15466936). ( PDIA6_HUMAN,Q15084 )

Protein attributes for PDIA6 Gene

Size:

440 amino acids

Quaternary structure:

• Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGGT1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX (PubMed:12475965).
  Interacts with MICA on the surface of tumor cells, leading to MICA disulfide bond reduction which is required for its release from tumor cells (PubMed:17495932).Major Histocompatibility Complex Class I Chain-Related Protein A,   Alias MICA.
  Interacts with ITGB3 following platelet stimulation (PubMed:15466936).
  Interacts with ERN1; the interaction is direct (PubMed:24508390).
  Interacts with EIF2AK3 (PubMed:24508390).