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P4HB Gene

protein-coding   GIFtS: 70
GCID: GC17M079801

Prolyl 4-Hydroxylase, Beta Polypeptide

(Previous names: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline...)
(Previous symbols: PO4DB, ERBA2L)
  See P4HB-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Prolyl 4-Hydroxylase, Beta Polypeptide1 2     Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase),
Beta Polypeptide (Protein Disulfide Isomerase-Associated 1)1
ERBA2L1 2 3     Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase),
Beta Polypeptide (Protein Disulfide Isomerase; Thyroid Hormone Binding
Protein P55)1
PO4DB1 2 3     Protein Disulfide Isomerase Family A1
Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase),
Beta Polypeptide1 2
     DSI2
Collagen Prolyl 4-Hydroxylase Beta1 2     GIT2
Protein Disulfide Isomerase-Associated 11 2     P4Hbeta2
Cellular Thyroid Hormone-Binding Protein2 3     PHDB2
Prolyl 4-Hydroxylase Subunit Beta2 3     PO4HB2
PDI2 3     Glutathione-Insulin Transhydrogenase2
PDIA12 3     Protein Disulfide Isomerase Family A, Member 12
p552 3     Protein Disulfide Isomerase/Oxidoreductase2
EC 5.3.4.13 8     Protein Disulfide-Isomerase2
PROHB2 5     Protocollagen Hydroxylase2
Member 11     Thyroid Hormone-Binding Protein P552

External Ids:    HGNC: 85481   Entrez Gene: 50342   Ensembl: ENSG000001856247   OMIM: 1767905   UniProtKB: P072373   

Export aliases for P4HB gene to outside databases

Previous GC identifers: GC17M079210 GC17M9I0021 GC17M080336 GC17M077394 GC17M075202


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, beta polypeptide) is a protein-coding gene. Diseases associated with P4HB include malaria. GO annotations related to this gene include protein disulfide oxidoreductase activity and protein heterodimerization activity. An important paralog of this gene is PDIA4.

UniProtKB/Swiss-Prot: PDIA1_HUMAN, P07237
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

Gene Wiki entry for P4HB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010663.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the P4HB gene promoter:
         HEN1   AP-1   CUTL1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidP4HB promoter sequence
   Search Chromatin IP Primers for P4HB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat P4HB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25

P4HB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
P4HB gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M079801:  view genomic region     (about GC identifiers)

Start:
79,801,034 bp from pter      End:
79,818,570 bp from pter
Size:
17,537 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PDIA1_HUMAN, P07237 (See protein sequence)
Recommended Name: Protein disulfide-isomerase precursor  
Size: 508 amino acids; 57116 Da
Subunit: 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.
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
Selected PDB 3D structures from and Proteopedia for P4HB (see all 9):
1BJX (3D)        1MEK (3D)        1X5C (3D)        2BJX (3D)        2K18 (3D)        3BJ5 (3D)    
Secondary accessions: B2RDQ2 P30037 P32079 Q15205 Q6LDE5

Explore the universe of human proteins at neXtProt for P4HB: NX_P07237

Explore proteomics data for P4HB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys81, Lys103, Lys200, Lys222, Lys271, Lys375, Lys444
  • Glycosylation2 at Thr442
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for P4HB (P07237) (see all 17)
     VIGFFKD  LVGKNFE  LAKVDATE  DDDLEDLE 


    See P4HB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000909.2  
    ENSEMBL proteins: 
     ENSP00000327801   ENSP00000459211   ENSP00000388117   ENSP00000461718   ENSP00000388374  
     ENSP00000458300   ENSP00000460285   ENSP00000461362   ENSP00000460088   ENSP00000461791  
     ENSP00000460741   ENSP00000460612  
    Reactome Protein details: P07237

    P4HB Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for P4HB
    OriGene MassSpec for P4HB
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    GenScript Purified and Recombinant Proteins for P4HB
    Novus Biologicals P4HB Proteins
    Novus Biologicals P4HB Lysates
    Sino Biological Recombinant Protein for P4HB
    Sino Biological Cell Lysate for P4HB
    ProSpec Recombinant Protein for P4HB
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for P4HB 

     
    antibodies-online proteins for P4HB (47 products) 

     
    antibodies-online peptides for P4HB

    P4HB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of P4HB
    R&D Systems Antibodies for P4HB (Protein Disulfide Isomerase/P4HB)
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    Abcam antibodies for P4HB
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for P4HB
    LSBio Antibodies in human, mouse, rat for P4HB
    antibodies-online antibodies for P4HB (104 products) 

    P4HB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for P4HB 
    antibodies-online kits for P4HB (34 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PDI: Protein disulfide isomerases

    Selected InterPro protein domains (see all 6):
     IPR005746 Thioredoxin
     IPR012336 Thioredoxin-like_fold
     IPR005788 Disulphide_isomerase
     IPR013766 Thioredoxin_domain
     IPR017937 Thioredoxin_CS

    Graphical View of Domain Structure for InterPro Entry P07237

    ProtoNet protein and cluster: P07237

    1 Blocks protein domain: IPB006662 Thioredoxin type domain

    UniProtKB/Swiss-Prot: PDIA1_HUMAN, P07237
    Similarity: Belongs to the protein disulfide isomerase family
    Similarity: Contains 2 thioredoxin domains


    Find genes that share domains with P4HB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDIA1_HUMAN, P07237
    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
    Catalytic activity: Catalyzes the rearrangement of -S-S- bonds in proteins

         Genatlas biochemistry entry for P4HB:
    prolyl-4-hydroxylase,beta polypeptide,same as PDI,THBP,heterodimerizing with P4HA,P4HA2

         Enzyme Number (IUBMB): EC 5.3.4.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003756protein disulfide isomerase activity IBA--
    GO:0004656contributes to procollagen-proline 4-dioxygenase activity IDA7753822
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI12095988
    GO:0015035protein disulfide oxidoreductase activity IEA--
         
    Find genes that share ontologies with P4HB           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for P4HB:
     G0/1 arrest  Increased G1 DNA content 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for P4hb):
     hematopoietic system  immune system 

    Find genes that share phenotypes with P4HB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out P4hbtm1.2Geno for P4HB

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for P4HB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for P4HB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for P4HB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for P4HB

    miRNA
    Products:
        
    miRTarBase miRNAs that target P4HB:
    hsa-mir-18a-3p (MIRT040772), hsa-mir-484 (MIRT042160), hsa-mir-92a-3p (MIRT049210), hsa-mir-615-3p (MIRT040162), hsa-mir-210-3p (MIRT003155), hsa-mir-183-5p (MIRT047151)

    Block miRNA regulation of human, mouse, rat P4HB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate P4HB (see all 15):
    hsa-miR-124* hsa-miR-588 hsa-miR-188-5p hsa-miR-513a-3p hsa-miR-548k hsa-miR-499-3p hsa-miR-548s hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidP4HB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for P4HB
    Predesigned siRNA for gene silencing in human, mouse, rat P4HB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for P4HB

    Clone
    Products:
         
    OriGene clones in human, mouse for P4HB (see all 7)
    OriGene ORF clones in mouse, rat for P4HB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: P4HB (NM_000918)
    Sino Biological Human cDNA Clone for P4HB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for P4HB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat P4HB
    Addgene plasmids for P4HB 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P4HB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PDIA1_HUMAN, P07237: Endoplasmic reticulum lumen. Melanosome. Cell membrane; Peripheral membrane protein
    (Potential). 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. Identified by mass spectrometry in melanosome fractions from
    stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular5
    plasma membrane5
    cytoskeleton2
    cytosol2
    golgi apparatus2
    chloroplast1
    lysosome1
    mitochondrion1
    nucleus1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574
    GO:0005783endoplasmic reticulum IDA12095988
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA15308636
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with P4HB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for P4HB About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Lipoprotein metabolism
    Lipoprotein metabolism0.59
    Chylomicron-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    2Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Collagen formation0.75
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Cellular Senescence
    Cellular responses to stress0.81
    5Degradation of the extracellular matrix
    Extracellular matrix organization0.34


    Find genes that share SuperPaths with P4HB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for P4HB
        Translational Control


    3 Reactome Pathways for P4HB
        Detoxification of Reactive Oxygen Species
    Collagen biosynthesis and modifying enzymes
    Chylomicron-mediated lipid transport


    1 Kegg Pathway  (Kegg details for P4HB):
        Protein processing in endoplasmic reticulum

        Pathway & Disease-focused RT2 Profiler PCR Array including P4HB: 
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for P4HB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for P4HB (P072371, 2, 3 ENSP000003278014) via UniProtKB, MINT, STRING, and/or I2D (see all 203)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRDX4Q131621, 2, 3, ENSP000003686464EBI-395883,EBI-2211957 MINT-8091005 MINT-8091054 I2D: score=1 STRING: ENSP00000368646
    ENSG00000206297Q035181, 3EBI-395883,EBI-747259 I2D: score=2 
    ENSG00000224212Q035181, 3EBI-395883,EBI-747259 I2D: score=2 
    ENSG00000226173Q035181, 3EBI-395883,EBI-747259 I2D: score=2 
    ENSG00000227816Q035181, 3EBI-395883,EBI-747259 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding IBA--
    GO:0006662glycerol ether metabolic process IEA--
    GO:0018401peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA7753822
    GO:0030198extracellular matrix organization TAS--
    GO:0034976response to endoplasmic reticulum stress IMP12095988

    Find genes that share ontologies with P4HB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for P4HB (PDIA1)

    Selected HMDB Compounds for P4HB (see all 290)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    TG(10:0/10:0/10:0)[iso]Tri-n-caprin (see all 17)621-71-6--
    TG(12:0/12:0/12:0)Triacylglycerol (see all 11)----
    TG(15:0/16:0/20:2(11Z,14Z))[iso6]Tracylglycerol(15:0/16:0/20:2) (see all 15)----
    TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:3n6) (see all 16)----
    TG(15:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:4n6) (see all 15)----
    TG(15:0/18:0/18:2(9Z,12Z))[iso6]TG(15:0/18:0/18:2w6) (see all 15)----
    TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6]TAG(51:3) (see all 16)----
    TG(15:0/18:1(9Z)/16:0)[iso6]Tracylglycerol(15:0/18:1w9/16:0) (see all 15)----
    TG(15:0/18:1(9Z)/16:1(9Z))[iso6]TG(15:0/18:1/16:1) (see all 15)----

    1 DrugBank Compound for P4HB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ribostamycin5-Amino-2-Aminomethyl-6-[4,6-Diamino-2-(3,4-Dihydroxy-5-Hydroxymethyl-Tetrahydro-Furan-2-Yloxy)-3-Hydroxy-Cyclohexyloxy]-Tetrahydro-Pyran-3,4-Diol (see all 8)25546-65-0target--11741285

    Selected Novoseek inferred chemical compound relationships for P4HB gene (see all 82)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dithiol 73.7 11 2025221 (2), 16142915 (1), 12892495 (1), 7913469 (1) (see all 7)
    dtnb 63.4 5 9834122 (1), 19366212 (1), 19091013 (1), 16507315 (1)
    gssg 62.9 12 2025221 (2), 12485997 (2), 9034346 (1), 1988050 (1) (see all 7)
    cysteine 61.2 36 17074504 (3), 20026073 (3), 10893409 (2), 8914835 (2) (see all 22)
    glyceraldehyde 3-phosphate 54 19 11233170 (2), 11488911 (2), 9016829 (1), 11503214 (1) (see all 14)
    gsno 50.6 9 15171728 (2), 19402212 (1), 15611098 (1), 17176252 (1) (see all 5)
    tunicamycin 49.1 2 8645293 (1)
    dehydroascorbic acid 48.3 14 19686035 (3), 7844111 (2), 8503862 (1), 7750794 (1) (see all 6)
    dithiothreitol 48.1 6 11796709 (1), 10622730 (1), 2025221 (1), 8645293 (1) (see all 6)
    cystamine 47 3 7530195 (1), 16914140 (1), 18618447 (1)



    Find genes that share compounds with P4HB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for P4HB gene: 
    NM_000918.3  

    Unigene Cluster for P4HB:

    Prolyl 4-hydroxylase, beta polypeptide
    Hs.464336  [show with all ESTs]
    Unigene Representative Sequence: NM_000918
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000331483(uc002kbl.1 uc002kbm.1 uc002kbn.1) ENST00000575069
    ENST00000415593 ENST00000576390 ENST00000473021 ENST00000571507 ENST00000476482
    ENST00000439918 ENST00000571617 ENST00000474712 ENST00000478034 ENST00000576380
    ENST00000477607 ENST00000472244 ENST00000570907 ENST00000484286 ENST00000574007
    ENST00000573778
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate P4HB (see all 15):
    hsa-miR-124* hsa-miR-588 hsa-miR-188-5p hsa-miR-513a-3p hsa-miR-548k hsa-miR-499-3p hsa-miR-548s hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidP4HB 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for P4HB
    Predesigned siRNA for gene silencing in human, mouse, rat P4HB
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    Additional mRNA sequence: 

    AB062434.1 AK075503.1 AK095938.1 AK128783.1 AK296206.1 AK297081.1 AK297967.1 AK298005.1 
    AK300561.1 AK308600.1 AK315631.1 AL357203.1 BC010859.1 BC014504.1 BC018801.1 BC029617.1 
    BC071892.1 J02783.1 X05130.1 X07077.1 

    Selected DOTS entries (see all 77):

    DT.101987380  DT.100889234  DT.92467925  DT.92021274  DT.86838770  DT.97863821  DT.100032508  DT.100889259 
    DT.92040529  DT.100889248  DT.120894726  DT.100889265  DT.95156962  DT.100889239  DT.120894734  DT.100889251 
    DT.120894629  DT.100889274  DT.100889246  DT.100889236  DT.97864700  DT.95157068  DT.100045570  DT.120894631 

    Selected AceView cDNA sequences (see all 1967):

    BU542510 BX377204 BQ677078 CA947094 BU542645 AU131555 AU131323 BM989483 
    CA415031 BM550316 BM907780 AU121988 AU131951 AU141207 BG741855 BQ669340 
    CD251755 BU956166 AU121584 BP342072 H45742 BQ430541 CA307470 AA386344 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for P4HB (see all 25)    About this scheme

    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:                                      -     -     -     -     -     -                             -     -     -     -     -     -                           

    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:                                                                                                                                          


    ECgene alternative splicing isoforms for P4HB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    P4HB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGGAAGAG
    P4HB Expression
    About this image


    P4HB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Lens
     
     Pancreas (Endocrine System)
    P4HB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    P4HB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464336
        Pathway & Disease-focused RT2 Profiler PCR Array including P4HB: 
              Hypoxia Signaling Pathway in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P4HB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for P4HB gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia P4hb1 , 5 prolyl 4-hydroxylase, beta polypeptide1, 5 87.07(n)1
    94.99(a)1
      11 (84.27 cM)5
    184531  NM_011032.21  NP_035162.11 
     1205602985 
    chicken
    (Gallus gallus)
    Aves P4HB1 prolyl 4-hydroxylase, beta polypeptide 79.93(n)
    87.03(a)
      374091  NM_001198710.1  NP_001185639.1 
    lizard
    (Anolis carolinensis)
    Reptilia P4HB6
    prolyl 4-hydroxylase, beta polypeptide
    76(a)
    1 ↔ 1
    2(118615571-118636374)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046736.12   -- 77.66(n)    BC046736.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.291132 Transcribed sequence with weak similarity to protein pirISHUSS (H.sapiens) ISHUSS protein disulfide-isomerase (EC 5.3.4.1) precursor - human less 78.03(n)    BI890770.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pdi1 , 3 protein folding protein disulfide
    isomerase3
    Protein disulfide isomerase1
    57(a)3
    64.07(n)1
    57.02(a)1
      3 71B53
    396511  NM_079355.31  NP_524079.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pdi-21 , 3 Expression: hypodermal3
    pdi-21
    58(a)3
    64.45(n)1
    59.42(a)1
      X(4559522-4561487)3
    1807241  NM_076377.31  NP_508778.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PDI11 PDI1 48.27(n)
    34.87(a)
      850314   NP_009887.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PDIL1-41 PDIL1-4 52.62(n)
    42.14(a)
      836185  NM_180903.3  NP_851234.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01001001 Os02g0100100 51.61(n)
    40.22(a)
      4327971  NM_001052114.1  NP_001045579.1 


    ENSEMBL Gene Tree for P4HB (if available)
    TreeFam Gene Tree for P4HB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for P4HB gene
    PDIA42  ERP272  TMX32  PDIA22  ERP442  PDIA32  PDILT2  
    9 SIMAP similar genes for P4HB using alignment to 15 protein entries:     PDIA1_HUMAN (see all proteins):
    TMX3    PDIA2    TXN    PDIA5    PDIA3    PDIA4
    PDILT    ERP27    TMX1

    Find genes that share paralogs with P4HB           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for P4HB (see all 640)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1444525101,2
    --79800621(+) TTATCA/GTGTGA 1 -- ds50010--------
    rs1453413171,2
    --79800647(+) CAGGGC/TCCCCT 1 -- ds50010--------
    rs1917674131,2
    --79800694(+) GATTTC/TTCGTC 1 -- ds50010--------
    rs1846054301,2
    C--79800707(+) TCCACA/GGCGGG 1 -- ds50010--------
    rs1897774451,2
    --79800913(+) TGCACC/GTCGTC 1 -- ds50010--------
    rs1809737951,2
    --79800959(+) TAAGGC/TCTGGC 1 -- ds50010--------
    rs1844515751,2
    C--79801009(+) GCTTGG/TTGAGA 1 -- ds50010--------
    rs10505971,2
    F--79801103(-) CAGTTC/TTTCAG 1 -- ut31 ese31Minor allele frequency- T:0.10MN 184
    rs1492273001,2
    C--79801222(+) GTCACA/GATGAG 1 -- ut310--------
    rs1905376311,2
    C--79801248(+) GGAGCA/CCTGGC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for P4HB (79801034 - 79818570 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for P4HB (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666696CNV Deletion23128226
    nsv909134CNV Loss21882294
    dgv3339n71CNV Loss21882294
    dgv3337n71CNV Loss21882294
    dgv3330n71CNV Loss21882294
    dgv3333n71CNV Loss21882294
    nsv833569CNV Loss17160897
    nsv909052CNV Loss21882294
    dgv3332n71CNV Loss21882294
    nsv470620CNV Loss18288195

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 176790    OMIM disorders: --

    1 disease for P4HB:    
    About MalaCards
    malaria

    1 disease from the University of Copenhagen DISEASES database for P4HB:
    Abetalipoproteinemia

    Find genes that share disorders with P4HB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for P4HB gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatitis halothane 64.6 3 8406360 (2), 8415876 (1)
    abetalipoproteinemia 60.2 1 7782284 (1)
    hypoxia ischemia brain 51.1 2 10744727 (1), 15147878 (1)
    psach 39.9 2 11691584 (1), 16286662 (1)
    shock 38.6 32 10079081 (1), 12748950 (1), 17067859 (1), 17996735 (1) (see all 26)
    neurodegenerative diseases 32.9 1 17163772 (1)
    erythroleukemia 18.1 3 9927500 (1)
    cholera 12.6 1 19289469 (1)
    fibrosarcoma 6.19 4 11206065 (1), 9891011 (1), 11493694 (1)
    thrombosis 3.81 1 18759277 (1), 19294693 (1)

    Genetic Association Database (GAD): P4HB
    Human Genome Epidemiology (HuGE) Navigator: P4HB (3 documents)

    Export disorders for P4HB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for P4HB gene, integrated from 10 sources (see all 574):
    (articles sorted by number of sources associating them with P4HB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Protein-disulfide isomerase (PDI) in FRTL5 cells. pH-dependent thyroglobulin/PDI interactions determine a novel PDI function in the post-endoplasmic reticulum of thyrocytes. (PubMed id 10636893)1, 2, 9 Mezghrani A....Miquelis R. (J. Biol. Chem. 2000)
    2. Is protein disulfide isomerase a redox-dependent molecular chaperone? (PubMed id 12485997)1, 2, 9 Lumb R.A. and Bulleid N.J. (EMBO J. 2002)
    3. Nuclear magnetic resonance characterization of the N-terminal thioredoxin-like domain of protein disulfide isomerase. (PubMed id 8580850)1, 2, 9 Kemmink J.... Creighton T.E. (Protein Sci. 1995)
    4. The catalytic activity of protein disulfide isomerase is involved in human immunodeficiency virus envelope-mediated membrane fusion after CD4 cell binding. (PubMed id 11181151)1, 2, 9 Fenouillet E.... Miquelis R. (J. Infect. Dis. 2001)
    5. The structure in solution of the B domain of protein disulfide isomerase. (PubMed id 10383197)1, 2, 9 Kemmink J....Darby N.J. (J. Biomol. NMR 1999)
    6. Structure determination of the N-terminal thioredoxin-like domain of protein disulfide isomerase using multidimensional heteronuclear 13C/15N NMR spectroscopy. (PubMed id 8672469)1, 2, 9 Kemmink J.... Creighton T.E. (Biochemistry 1996)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    9. Glycosaminoglycans and protein disulfide isomerase-mediated reduction of HIV Env. (PubMed id 15644496)1, 2 Barbouche R.... Fenouillet E. (Mol. Pharmacol. 2005)
    10. Protein disulfide isomerase. (PubMed id 15158710)1, 2 Wilkinson B. and Gilbert H.F. (Biochim. Biophys. Acta 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 5034 HGNC: 8548 AceView: P4HB Ensembl:ENSG00000185624 euGenes: HUgn5034
    ECgene: P4HB Kegg: 5034 H-InvDB: P4HB

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for P4HB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for P4HB gene:
    Search GeneIP for patents involving P4HB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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