Homo sapiens Gene: P4HB
Summary
InnateDB Gene IDBG-72655.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol P4HB
Gene Name prolyl 4-hydroxylase, beta polypeptide
Synonyms DSI; ERBA2L; GIT; P4Hbeta; PDI; PDIA1; PHDB; PO4DB; PO4HB; PROHB;
Species Homo sapiens
Ensembl Gene ENSG00000185624
Encoded Proteins
prolyl 4-hydroxylase, beta polypeptide
prolyl 4-hydroxylase, beta polypeptide
prolyl 4-hydroxylase, beta polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:81843159-81860694
Strand Reverse strand
Band q25.3
Transcripts
ENST00000331483 ENSP00000327801
ENST00000415593 ENSP00000388117
ENST00000439918 ENSP00000388374
ENST00000473021
ENST00000476482
ENST00000474712
ENST00000478034
ENST00000472244
ENST00000484286
ENST00000477607
ENST00000467086
ENST00000471535
ENST00000466567
ENST00000570907 ENSP00000461362
ENST00000573778 ENSP00000460088
ENST00000576380 ENSP00000460285
ENST00000574914 ENSP00000460612
ENST00000571507
ENST00000571617 ENSP00000458300
ENST00000576390 ENSP00000461718
ENST00000575069 ENSP00000459211
ENST00000574007
ENST00000576541 ENSP00000460741
ENST00000576052 ENSP00000461791
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 89 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 89 [view]
Protein-Protein 89 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003756 protein disulfide isomerase activity
GO:0004656 procollagen-proline 4-dioxygenase activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0016209 antioxidant activity
GO:0016491 oxidoreductase activity
GO:0016853 isomerase activity
GO:0019899 enzyme binding
GO:0044822 poly(A) RNA binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0006457 protein folding
GO:0008152 metabolic process
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline
GO:0030198 extracellular matrix organization
GO:0034976 response to endoplasmic reticulum stress
GO:0042157 lipoprotein metabolic process
GO:0044281 small molecule metabolic process
GO:0045454 cell redox homeostasis
GO:0055114 oxidation-reduction process
GO:0071456 cellular response to hypoxia
GO:1902175 regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
Cellular Component
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005886 plasma membrane
GO:0016222 procollagen-proline 4-dioxygenase complex
GO:0042470 melanosome
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Cellular responses to stress pathway
Processing-defective Hh variants abrogate ligand secretion pathway
Signaling by Hedgehog pathway
Metabolism of lipids and lipoproteins pathway
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Detoxification of Reactive Oxygen Species pathway
Signal Transduction pathway
Hedgehog ligand biogenesis pathway
Lipoprotein metabolism pathway
Metabolism pathway
Lipid digestion, mobilization, and transport pathway
Collagen formation pathway
Disease pathway
Chylomicron-mediated lipid transport pathway
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID BIOCARTA
Hypoxia-inducible factor in the cardivascular system [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL B3KTQ9 H7BZ94
UniProt Splice Variant
Entrez Gene 5034
UniGene Hs.464336
RefSeq NM_000918
HUGO HGNC:8548
OMIM 176790
CCDS CCDS11787
HPRD 07181
IMGT
EMBL AC145207 AC174470 AK095938 AK128783 CH471099
GenPept BAG53171 BAG54732 EAW89691 EAW89694
RNA Seq Atlas 5034