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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 abetalipoproteinemia, and thyroiditis, and among its related super-pathways are Lipoprotein metabolism and Collagen formation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010663.15  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for P4HB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
Miscellaneous: Reduces and may activate fusogenic properties of HIV-1 gp120 surface protein, thereby enabling
HIV-1 entry into the cell
6/9 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07237

  • 4/17 DME Specific Peptides for P4HB (P07237) (see all 17)
     VIGFFKD  LVGKNFE  LAKVDATE  DDDLEDLE 

    P4HB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    P4HB Protein Expression
    REFSEQ proteins: NP_000909.2  
    ENSEMBL proteins: 
     ENSP00000327801   ENSP00000459211   ENSP00000388117   ENSP00000461718   ENSP00000388374  
     ENSP00000458300   ENSP00000460285   ENSP00000461362   ENSP00000460088   ENSP00000461791  
     ENSP00000460741   ENSP00000460612  
    Reactome Protein details: P07237
    Human Recombinant Protein Products for P4HB: 
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    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

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

    P4HB for ontologies           About GeneDecksing



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

    5/6 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


    P4HB for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003756protein disulfide isomerase activity IEA--
    GO:0004656procollagen-proline 4-dioxygenase activity IDA7753822
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI17055437
    GO:0009055electron carrier activity IEA--
         
    P4HB for ontologies           About GeneDecksing


    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 

    P4HB for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for P4HB 
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for P4HB 

    miRNA
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    miRTarBase miRNAs that target P4HB:
    hsa-mir-210 (MIRT003155)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat P4HB
    8/15 QIAGEN miScript miRNA 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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    Clone
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for P4HB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lipoprotein metabolism
    Lipoprotein metabolism0.57
    Lipid digestion, mobilization, and transport0.56
    Chylomicron-mediated lipid transport0.57
    2Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Extracellular matrix organization0.39
    Collagen formation0.74
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    5Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    5/8        Reactome Pathways for P4HB (see all 8)
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Lipid digestion, mobilization, and transport
    Metabolism
    Lipoprotein metabolism


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


    P4HB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for P4HB

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

    5/119 Interacting proteins for P4HB (P072371, 2, 3 ENSP000003278014) via UniProtKB, MINT, STRING, and/or I2D (see all 119)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232367Q035181, 3, ENSP000004023164EBI-395883,EBI-747259 I2D: score=2 STRING: ENSP00000402316
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding TAS2846539
    GO:0006662glycerol ether metabolic process IEA--
    GO:0018401peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA7753822
    GO:0030198extracellular matrix organization TAS--
    GO:0042157lipoprotein metabolic process TAS--

    P4HB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    P4HB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for P4HB (PDIA1)

    10/290 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

    10/82 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)

    Search CenterWatch for drugs/clinical trials and news about P4HB / PDIA1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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
    18/24 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

    24/77 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 

    24/1967 AceView cDNA sequences (see all 1967):

    BQ960170 CB129006 CD724161 CF272355 BE883357 BE383419 AL552047 BM751347 
    BG697010 BU164299 BQ677006 AU131574 BM704748 CF132205 CD513875 BP358956 
    BP359031 BQ062461 AU132203 BP358903 CB156269 BU542800 BE878616 BM553435 

    GeneLoc Exon Structure

    5/25 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    P4HB expression in normal human tissues (normalized intensities)      P4HB embryonic expression: see
    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 
     5/38 selected tissues (see all 38) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             mouse/organ system/cardiovascular system   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See P4HB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for P4HB

    SOURCE GeneReport for Unigene cluster: Hs.464336
        SABiosciences Expression via Pathway-Focused PCR Array including P4HB: 
              Hypoxia Signaling Pathway in human mouse rat

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    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for P4HB gene from 10/27 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 86.98(n)1
    94.28(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 78.86(n)
    85.49(a)
      374091  NM_001198710.1  NP_001185639.1 
    lizard
    (Anolis carolinensis)
    Reptilia P4HB6
    prolyl 4-hydroxylase, beta polypeptide
    77(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
    63.48(n)1
    55.51(a)1
      3 71B53
    396511  NM_079355.21  NP_524079.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pdi-21 , 3 Expression: hypodermal3
    Protein PDI-21
    58(a)3
    64.25(n)1
    58.76(a)1
      X(4559522-4561487)3
    1807241  NM_076377.21  NP_508778.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PDI11 Pdi1p 46.71(n)
    33.95(a)
      850314   NP_009887.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PDIL1-41 protein disulfide-isomerase A1 51.15(n)
    41.09(a)
      836185  NM_180903.3  NP_851234.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01001001 hypothetical protein 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
    Paralogs for P4HB gene
    PDIA42  ERP272  TMX32  PDIA22  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
    ERP27    PDILT    TMX1

    P4HB for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/640 SNPs in P4HB are shown (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) 10/14 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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 176790    OMIM disorders: --

    20/42 diseases for P4HB (see all 42):    About MalaCards
    abetalipoproteinemia    thyroiditis    pseudoachondroplasia    male breast cancer
    congenital hypothyroidism    diphtheria    brain ischemia    cholera
    antiphospholipid syndrome    hypothyroidism    hypoxia    ischemia
    goiter    fibrosarcoma    malaria    acute pancreatitis
    b-cell chronic lymphocytic leukemia    thrombosis    vascular disease    hyperglycemia

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

    P4HB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/25 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

    PubMed articles for P4HB gene, integrated from 9 sources (see all 568):
    (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. (2000)
    2. Is protein disulfide isomerase a redox-dependent molecular chaperone? (PubMed id 12485997)1, 2, 9 Lumb R.A. and Bulleid N.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. (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. (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. (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. (1996)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    9. Glycosaminoglycans and protein disulfide isomerase-mediated reduction of HIV Env. (PubMed id 15644496)1, 2 Barbouche R.... Fenouillet E. (2005)
    10. Protein disulfide isomerase. (PubMed id 15158710)1, 2 Wilkinson B. and Gilbert H.F. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 5034 HGNC: 8548 AceView: P4HB Ensembl:ENSG00000185624 euGenes: HUgn5034
    ECgene: P4HB Kegg: 5034 H-InvDB: P4HB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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