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Aliases for P4HB Gene

Aliases for P4HB Gene

  • Prolyl 4-Hydroxylase Subunit Beta 2 3 4
  • Prolyl 4-Hydroxylase, Beta Polypeptide 2 3 5
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide 2 3
  • Protein Disulfide Isomerase-Associated 1 2 3
  • Cellular Thyroid Hormone-Binding Protein 3 4
  • Collagen Prolyl 4-Hydroxylase Beta 2 3
  • EC 5.3.4.1 4 63
  • ERBA2L 3 4
  • PO4DB 3 4
  • PDIA1 3 4
  • P55 3 4
  • PDI 3 4
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase; Thyroid Hormone Binding Protein P55) 2
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase-Associated 1) 2
  • Protein Disulfide Isomerase Family A, Member 1 3
  • Protein Disulfide Isomerase/Oxidoreductase 3
  • Protein Disulfide Isomerase Family A 2
  • Glutathione-Insulin Transhydrogenase 3
  • Thyroid Hormone-Binding Protein P55 3
  • Testicular Secretory Protein Li 32 3
  • Protocollagen Hydroxylase 3
  • Member 1 2
  • P4Hbeta 3
  • CLCRP1 3
  • PO4HB 3
  • PROHB 3
  • PHDB 3
  • DSI 3
  • GIT 3

External Ids for P4HB Gene

Previous HGNC Symbols for P4HB Gene

  • PO4DB
  • ERBA2L

Previous GeneCards Identifiers for P4HB Gene

  • GC17M079210
  • GC17M9I0021
  • GC17M080336
  • GC17M077394
  • GC17M079801
  • GC17M075202

Summaries for P4HB Gene

Entrez Gene Summary for P4HB Gene

  • 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]

GeneCards Summary for P4HB Gene

P4HB (Prolyl 4-Hydroxylase Subunit Beta) is a Protein Coding gene. Diseases associated with P4HB include Cole-Carpenter Syndrome 1 and Cole-Carpenter Syndrome. Among its related pathways are Metabolism and Lipoprotein metabolism. GO annotations related to this gene include poly(A) RNA binding and protein heterodimerization activity. An important paralog of this gene is PDIA3.

UniProtKB/Swiss-Prot for P4HB Gene

  • This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307).

Gene Wiki entry for P4HB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P4HB Gene

Genomics for P4HB Gene

Regulatory Elements for P4HB Gene

Enhancers for P4HB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around P4HB on UCSC Golden Path with GeneCards custom track

Promoters for P4HB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around P4HB on UCSC Golden Path with GeneCards custom track

Genomic Location for P4HB Gene

Chromosome:
17
Start:
81,843,158 bp from pter
End:
81,860,694 bp from pter
Size:
17,537 bases
Orientation:
Minus strand

Genomic View for P4HB Gene

Genes around P4HB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P4HB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P4HB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P4HB Gene

Proteins for P4HB Gene

  • Protein details for P4HB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07237-PDIA1_HUMAN
    Recommended name:
    Protein disulfide-isomerase
    Protein Accession:
    P07237
    Secondary Accessions:
    • B2RDQ2
    • P30037
    • P32079
    • Q15205
    • Q6LDE5

    Protein attributes for P4HB Gene

    Size:
    508 amino acids
    Molecular mass:
    57116 Da
    Quaternary structure:
    • Heterodimer; heterodimerizes with the protein microsomal triglyceride transfer MTTP (PubMed:23475612, PubMed:26224785). Homodimer. Monomers and homotetramers may also occur. Also constitutes the structural subunit of prolyl 4-hydroxylase and of the microsomal triacylglycerol transfer protein MTTP in mammalian cells. Stabilizes both enzymes and retain them in the ER without contributing to the catalytic activity (By similarity). Binds UBQLN1 (PubMed:12095988). Interacts with ERO1B (PubMed:11707400). Binds to CD4, and upon HIV-1 binding to the cell membrane, is part of a P4HB/PDI-CD4-CXCR4-gp120 complex.
    Miscellaneous:
    • Reduces and may activate fusogenic properties of HIV-1 gp120 surface protein, thereby enabling HIV-1 entry into the cell.

    Three dimensional structures from OCA and Proteopedia for P4HB Gene

neXtProt entry for P4HB Gene

Proteomics data for P4HB Gene at MOPED

Post-translational modifications for P4HB Gene

  • Ubiquitination at Lys 81, Lys 103, Lys 200, Lys 222, Lys 271, Lys 375, and Lys 444
  • Glycosylation at Thr 442
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for P4HB (Protein Disulfide Isomerase/P4HB)
  • Cell Signaling Technology (CST) Antibodies for P4HB (PDIA1)

Domains & Families for P4HB Gene

Gene Families for P4HB Gene

Graphical View of Domain Structure for InterPro Entry

P07237

UniProtKB/Swiss-Prot:

PDIA1_HUMAN :
  • Contains 2 thioredoxin domains.
  • Belongs to the protein disulfide isomerase family.
Domain:
  • Contains 2 thioredoxin domains.
Family:
  • Belongs to the protein disulfide isomerase family.
genes like me logo Genes that share domains with P4HB: view

Function for P4HB Gene

Molecular function for P4HB Gene

GENATLAS Biochemistry:
prolyl-4-hydroxylase,beta polypeptide,same as PDI,THBP,heterodimerizing with P4HA,P4HA2
UniProtKB/Swiss-Prot CatalyticActivity:
Catalyzes the rearrangement of -S-S- bonds in proteins.
UniProtKB/Swiss-Prot Function:
This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307).

Enzyme Numbers (IUBMB) for P4HB Gene

Gene Ontology (GO) - Molecular Function for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity TAS --
GO:0004656 contributes_to procollagen-proline 4-dioxygenase activity IDA 7753822
GO:0005515 protein binding IEA,IPI 12095988
genes like me logo Genes that share ontologies with P4HB: view
genes like me logo Genes that share phenotypes with P4HB: view

Human Phenotype Ontology for P4HB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for P4HB Gene

MGI Knock Outs for P4HB:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for P4HB Gene

Localization for P4HB Gene

Subcellular locations from UniProtKB/Swiss-Prot for P4HB Gene

Endoplasmic reticulum. Endoplasmic reticulum lumen. Melanosome. Cell membrane; Peripheral membrane protein. Note=Highly abundant. In some cell types, seems to be also secreted or associated with the plasma membrane, where it undergoes constant shedding and replacement from intracellular sources (Probable). Localizes near CD4-enriched regions on lymphoid cell surfaces (PubMed:11181151). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:10636893). Colocalizes with MTTP in the endoplasmic reticulum (PubMed:23475612). {ECO:0000269 PubMed:10636893, ECO:0000269 PubMed:11181151, ECO:0000269 PubMed:23475612, ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for P4HB Gene COMPARTMENTS Subcellular localization image for P4HB gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 5
cytoskeleton 2
cytosol 2
golgi apparatus 2
mitochondrion 2
nucleus 2
vacuole 2
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016222 procollagen-proline 4-dioxygenase complex IDA 7753822
GO:0034663 endoplasmic reticulum chaperone complex IEA --
GO:0042470 melanosome IEA --
genes like me logo Genes that share ontologies with P4HB: view

Pathways & Interactions for P4HB Gene

genes like me logo Genes that share pathways with P4HB: view

Pathways by source for P4HB Gene

Gene Ontology (GO) - Biological Process for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species TAS --
GO:0006457 protein folding IEA,TAS --
GO:0006508 proteolysis TAS --
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA 7753822
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with P4HB: view

No data available for SIGNOR curated interactions for P4HB Gene

Drugs & Compounds for P4HB Gene

(38) Drugs for P4HB Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra 471,471
Ribostamycin Experimental Pharma Target 0
DMOG Pharma Competitive HIF-PH inhibitor, cell-permeable, Prolyl hydroxylase inhibitor 0

(50) Additional Compounds for P4HB Gene - From: Novoseek and HMDB