P4HB
Summary: This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:176790 Ensembl IDEnsembl:ENSG00000185624 HGNC IDHGNC:HGNC:8548 PHARMGKB IDPA32876 Map Location17q25.3 |
GO terms in P4HB
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IBA | GO:0006457 | protein folding |
BP | IDA | GO:0018401 | peptidyl-proline hydroxylation to 4-hydroxy-L-proline |
BP | TAS | GO:0034378 | chylomicron assembly |
BP | TAS | GO:0034379 | very-low-density lipoprotein particle assembly |
BP | IBA | GO:0034976 | response to endoplasmic reticulum stress |
BP | IMP | GO:0034976 | response to endoplasmic reticulum stress |
Gene expression in normal tissue: P4HB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in P4HB
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa04141 | Protein processing in endoplasmic reticulum - Homo sapiens (human) |
reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
reactome | R-HSA-1474244 | Extracellular matrix organization |
reactome | R-HSA-1474290 | Collagen formation |
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in P4HB
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |