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Aliases for P4HB Gene

Aliases for P4HB Gene

  • Prolyl 4-Hydroxylase Subunit Beta 2 3 4 5
  • Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide 2 3
  • Protein Disulfide Isomerase Family A, Member 1 2 3
  • Protein Disulfide Isomerase-Associated 1 2 3
  • Cellular Thyroid Hormone-Binding Protein 3 4
  • Prolyl 4-Hydroxylase, Beta Polypeptide 2 3
  • Collagen Prolyl 4-Hydroxylase Beta 2 3
  • EC 5.3.4.1 4 56
  • 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/Oxidoreductase 3
  • Glutathione-Insulin Transhydrogenase 3
  • Thyroid Hormone-Binding Protein P55 3
  • Testicular Secretory Protein Li 32 3
  • Protein Disulfide-Isomerase 3
  • Protocollagen Hydroxylase 3
  • 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 CDK-mediated phosphorylation and removal of Cdc6 and Metabolism. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is PDIA2.

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

Additional gene information for P4HB Gene

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

Genomics for P4HB Gene

GeneHancer (GH) Regulatory Elements for P4HB Gene

Promoters and enhancers for P4HB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I081857 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 562 +0.1 75 6.1 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 P4HB GC17P081860 ALYREF HGS FOXK2 CEP131 LOC105371942 TBCD ACTG1 TEPSIN
GH17I081831 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.5 +27.3 27258 4.2 HDGF PKNOX1 CLOCK SMAD1 MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 MCRIP1 PPP1R27 TBCD OGFOD3 ENSG00000263321 P4HB NPLOC4 RFNG FAAP100 HEXDC
GH17I081864 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.4 -8.2 -8249 8.9 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ARHGDIA ENSG00000262413 TBCD ENSG00000260563 FAAP100 NARF-IT1 TEPSIN ENSG00000262652 CSNK1D ENSG00000265678
GH17I081682 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 +176.5 176540 3.5 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF213 ARL16 HGS ALYREF FOXK2 LOC105371942 CCDC137 PDE6G NPLOC4 TSPAN10 P4HB
GH17I081884 Enhancer 1 ENCODE dbSUPER 12.8 -25.3 -25313 3.7 PKNOX1 SIN3A RFX5 ZNF121 SCRT2 ATF7 FOS USF2 CEBPB ZEB2 GC17P081887 P4HB SIRT7 MAFG ENSG00000235296 PYCR1 MYADML2 GC17P081881 ALYREF
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around P4HB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the P4HB gene promoter:

Genomic Locations for P4HB Gene

Genomic Locations for P4HB Gene
chr17:81,843,158-81,860,694
(GRCh38/hg38)
Size:
17,537 bases
Orientation:
Minus strand
chr17:79,801,034-79,818,570
(GRCh37/hg19)

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

Selected DME Specific Peptides for P4HB Gene

P07237:
  • DDIPFGITSNS
  • LVEFYAPWCGHCK
  • VIGFFKD
  • FKGKILFIFIDSDH
  • LAKVDATE
  • LVGKNFE
  • LEDLEEAEEPD
  • FLEGKIKPHLMSQ
  • GVRGYPTIKFF
  • EEDDDQKAV
  • KSNFAEALAAH
  • APWCGHCKALAP
  • DDDLEDLE
  • NQLPLVIEFTEQTAPKIFGGEIKTHILLFLPKSVSDY
  • GFKKFLESGGQDGA
  • VVLFKKFDEGR
  • KNVFVEFYAPWCGHCKQLAPIWDKLGETY

Post-translational modifications for P4HB Gene

  • Ubiquitination at Lys81, isoforms=103, Lys200, Lys222, isoforms=271, isoforms=375, and isoforms=444
  • Glycosylation at isoforms=442
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for P4HB (Protein Disulfide Isomerase/P4HB)
  • Abcam antibodies for P4HB

Protein Products

  • Abcam proteins for P4HB

Domains & Families for P4HB Gene

Gene Families for P4HB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P07237

UniProtKB/Swiss-Prot:

PDIA1_HUMAN :
  • Belongs to the protein disulfide isomerase family.
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:0003723 RNA binding HDA 22658674
GO:0003756 protein disulfide isomerase activity TAS,IDA 15225124
GO:0004656 contributes_to procollagen-proline 4-dioxygenase activity IDA 7753822
GO:0005178 integrin binding IPI,IEA 21670307
GO:0005515 protein binding 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

Clone Products

  • Addgene plasmids for P4HB

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P4HB gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
golgi apparatus 2
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for P4HB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IDA 12095988
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
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:0006457 protein folding IBA --
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA 7753822
GO:0034378 chylomicron assembly TAS --
GO:0034379 very-low-density lipoprotein particle assembly TAS --
GO:0034599 cellular response to oxidative stress 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Vitamin C Approved Nutra 581,581
Ribostamycin Approved, Investigational Pharma Target 0
Zinc Approved, Investigational Pharma Target 2430
Glyceryl Trioleate Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Triglycerides Group A
  • 1-Myristoyl-2-pentadecanoyl-3-palmitoyl-glycerol
  • 1-Tetradecanoyl-2-pentadecanoyl-3-hexadecanoyl-glycerol
  • TAG(14:0/15:0/16:0)
  • TAG(45:0)
  • TG(45:0)
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group B
  • 1-Palmitoyl-2-palmitoyl-3-oleoyl-glycerol
  • TAG(16:0/16:0/18:1)
  • TAG(16:0/16:0/18:1n9)
  • TAG(16:0/16:0/18:1w9)
  • TAG(50:1)
Triglycerides Group C
  • 1,2, 3-Propanetriyl-Decanoate
  • 1,2, 3-Propanetriyl-Decanoic acid
  • 2,3-Bis(decanoyloxy)propyl decanoate
  • 2,3-Bis(decanoyloxy)propyl decanoate (ACD/Name 4.0)
  • 2,3-Bis(decanoyloxy)propyl decanoic acid
621-71-6, 555-44-2, 30773-83-2
Triglycerides Group D
  • 1-Stearoyl-2-stearoyl-3-stearoyl-glycerol
  • TAG(18:0/18:0/18:0)
  • TAG(54:0)
  • TG(18:0/18:0/18:0)
  • TG(54:0)

(1) ApexBio Compounds for P4HB Gene

Compound Action Cas Number
DMOG Competitive HIF-PH inhibitor, cell-permeable 89464-63-1
genes like me logo Genes that share compounds with P4HB: view

Drug Products

Transcripts for P4HB Gene

Unigene Clusters for P4HB Gene

Prolyl 4-hydroxylase, beta polypeptide:
Representative Sequences:

Clone Products

  • Addgene plasmids for P4HB

Alternative Splicing Database (ASD) splice patterns (SP) for P4HB Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - - -
SP9: -
SP10: - - - - - - - -
SP11: - - - - - - - - - - - - - - - - -
SP12:
SP13: - - - - - - - - -
SP14: - - - - - - - - - - -
SP15: - - - - - - - - - - - - - - -
SP16: - - - - - - - -
SP17:
SP18: - - - - - - - - - - - -
SP19: - - - - - -
SP20: - - - - - - - - - - - - - - - - - -
SP21: - - -
SP22: - - - - - - - - - - - -
SP23:
SP24: -
SP25: -

ExUns: 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - - - - - - - - - - - - - - - - - - - -
SP21:
SP22: - - - - - - - - - - - - - - - -
SP23:
SP24:
SP25:

Relevant External Links for P4HB Gene

GeneLoc Exon Structure for
P4HB
ECgene alternative splicing isoforms for
P4HB

Expression for P4HB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for P4HB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for P4HB Gene

This gene is overexpressed in Pancreas (x6.8) and Liver (x5.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for P4HB Gene



Protein tissue co-expression partners for P4HB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of P4HB Gene:

P4HB

SOURCE GeneReport for Unigene cluster for P4HB Gene:

Hs.464336

Evidence on tissue expression from TISSUES for P4HB Gene

  • Intestine(5)
  • Liver(5)
  • Lung(5)
  • Skin(5)
  • Nervous system(5)
  • Kidney(4.9)
  • Blood(4.8)
  • Pancreas(4.7)
  • Spleen(4.6)
  • Stomach(4.6)
  • Eye(4.1)
  • Thyroid gland(4)
  • Heart(3.9)
  • Muscle(3.6)
  • Bone(2.9)
  • Bone marrow(2.9)
  • Adrenal gland(2.5)
  • Lymph node(2.3)
  • Gall bladder(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for P4HB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with P4HB: view

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for P4HB Gene

Orthologs for P4HB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for P4HB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia P4HB 33 34
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia P4HB 33 34
  • 89.84 (n)
dog
(Canis familiaris)
Mammalia P4HB 33 34
  • 88.62 (n)
mouse
(Mus musculus)
Mammalia P4hb 33 16 34
  • 87.07 (n)
oppossum
(Monodelphis domestica)
Mammalia P4HB 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P4hb 33