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P4HB Gene

protein-coding   GIFtS: 63

GC17M075202
prolyl 4-hydroxylase, beta polypeptide
(Previous names: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55), procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1), procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: PO4DB, ERBA2L)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
prolyl 4-hydroxylase, beta polypeptide1 2     procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta
polypeptide (protein disulfide isomerase-associated 1)1
PDIA11 2 3     procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta
polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)1
PDI1 2 3     protein disulfide-isomerase2
PROHB1 2 5     protein disulfide isomerase family A, member 12
PO4HB1 2     v-erb-a avian erythroblastic leukemia viral oncogene homolog 2-like2
DSI1 2     glutathione-insulin transhydrogenase2
GIT1 2     protein disulfide isomerase/oxidoreductase2
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta
polypeptide1 2
     protocollagen hydroxylase2
P4Hbeta1 2     collagen prolyl 4-hydroxylase beta2
Cellular thyroid hormone-binding protein2 3     thyroid hormone-binding protein p552
Prolyl 4-hydroxylase subunit beta2 3     PHDB2
ERBA2L2 3     protein disulfide isomerase-associated 12
PO4DB2 3     EC 5.3.4.13
p552 3     

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

Export aliases for P4HB gene to outside databases

Previous GC identifers: GC17M079210 GC17M9I0021 GC17M080336 GC17M077394 GC17M079801


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

Entrez Gene summary for P4HB:
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)

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

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the P4HB gene promoter:
         Egr-1   NF-kappaB1   C/EBPalpha   p53   AP-1   CUTL1   NF-kappaB   c-Fos   c-Jun   c-Myb   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for P4HB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M075202:  view genomic region     (about GC identifiers)

Start:
75,202,821 bp from pter
End:
75,220,332 bp from pter
Size:
17,512 bases
Orientation:
minus strand

1 alternative location:
Chr17- 79,801,037-79,818,545     
RefSeq DNA sequence:
NC_000017.10  NT_010663.15  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
PDB structures from and Proteopedia :
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 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000909.2  

    ENSEMBL proteins: 
    ENSP00000327801 ENSP00000388117 ENSP00000388374 ENSP00000396494 ENSP00000391471 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    R&D Systems Recombinant & Natural Proteins for P4HB (Protein Disulfide Isomerase/P4HB)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: P4HB
    GenScript Custom Purified and Recombinant Proteins Services for P4HB 
    Novus Biologicals Proteins for P4HB
    Novus Biologicals Lysate for P4HB
    Sino Biological Recombinant Protein for P4HB
    ProSpec Recombinant Protein for P4HB

    5/8 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region NAS14718574
    GO:0005783 endoplasmic reticulum IDA18029348
    GO:0005788 endoplasmic reticulum lumen TAS--
    GO:0005792 microsome IEA--
    GO:0005793 ER-Golgi intermediate compartment IDA15308636
    About this table

    P4HB for ontologies           About GeneDecksing



    Antibodies for P4HB: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for P4HB
    R&D Systems Antibodies for P4HB (Protein Disulfide Isomerase/P4HB)
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for P4HB 
    Novus Biologicals Antibodies for P4HB
    Epitomics antibodies for P4HB

    Assays for P4HB: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for P4HB 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    P4HB for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR005746 Thioredoxin
     IPR012336 Thioredoxin-like_fold
     IPR005788 Disulphide_isomerase
     IPR012335 Thioredoxin_fold
     IPR013766 Thioredoxin_domain

    Graphical View of Domain Structure for InterPro Entry P07237

    ProtoNet protein and cluster: P07237

    1 Blocks protein family: IPB006662 Thioredoxin type domain

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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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
    Catalytic activity: Catalyzes the rearrangement of -S-S- bonds in proteins
    Enzyme Number (IUBMB): EC 5.3.4.1 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for P4HB
    Sigma-Aldrich shRNA Panels and shRNA for P4HB
    OriGene 29mer shRNA kits in GFP-retroviral vector: P4HB
    OriGene shRNA RFP: P4HB
    OriGene basic RS shRNA: P4HB
    OriGene siRNA: P4HB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of P4HB 
    miRNA:Sigma-Aldrich microRNA Mimics for P4HB
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of P4HB 
    2 SABiosciences Assays for microRNAs that regulate P4HB:
    hsa-miR-588 hsa-miR-1305

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: P4HB
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: P4HB
    OriGene untagged cDNA clones in CMV expression vector (see all 2): P4HB
    OriGene 3'-UTR clone: P4HB 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for P4HB 
    Sino Biological Human cDNA Clone for P4HB

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for P4HB 

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

    5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003756 protein disulfide isomerase activity IEA--
    GO:0004656 procollagen-proline 4-dioxygenase activity IDA7753822
    GO:0005515 protein binding IPI17353931
    GO:0009055 electron carrier activity IEA--
    GO:0015035 protein disulfide oxidoreductase activity IEA--
    About this table

    P4HB for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    P4HB for pathways           About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  P4HB
        Arginine and Proline Metabolism
    Hypoxia Signaling in the Cardiovascular System

    1 Kegg Pathway  (Kegg details for P4HB):
        hsa04141 Protein processing in endoplasmic reticulum

        SABiosciences Custom Pathway-Focused PCR Arrays for P4HB 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for P4HB
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for P4HB

    5/20 Interacting proteins for P4HB (P072371, 2 ENSP000003278013) via UniProtKB, MINT, and/or STRING (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERO1LQ96HE72, ENSP000003520443MINT-8075157 MINT-15901 MINT-8075141 STRING: ENSP00000352044
    ERO1LBQ86YB82, ENSP000002641813MINT-8075120 STRING: ENSP00000264181
    CD2BP2O954001EBI-395883,EBI-768015
    CUL2Q136171EBI-395883,EBI-456179
    EIF4A2Q142401EBI-395883,EBI-73473
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629 lipid metabolic process TAS--
    GO:0006662 glycerol ether metabolic process IEA--
    GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA7753822
    GO:0042157 lipoprotein metabolic process TAS--
    GO:0045454 cell redox homeostasis IEA--
    About this table

    P4HB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    P4HB for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for P4HB
    10/82 Novoseek chemical compound relationships for P4HB gene (see all 82)
    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)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for P4HB
    Sigma-Aldrich shRNA Panels and shRNA for P4HB
    OriGene 29mer shRNA kits in GFP-retroviral vector: P4HB
    OriGene shRNA RFP: P4HB
    OriGene basic RS shRNA: P4HB
    OriGene siRNA: P4HB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of P4HB 
    miRNA: Sigma-Aldrich microRNA Mimics for P4HB
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of P4HB 
    2 SABiosciences Assays for microRNAs that regulate P4HB:
    hsa-miR-588 hsa-miR-1305
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: P4HB
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: P4HB
    OriGene untagged cDNA clones in CMV expression vector (see all 2): P4HB
    OriGene 3'-UTR Clone: P4HB 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for P4HB 
    Primers: OriGene genome-wide validated SYBR primer pairs: P4HB
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for P4HB: PPH19503A

    REFSEQ mRNAs for P4HB gene: 

    NM_000918.3  

    Additional cDNA 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 CR592927.1 CR600518.1 CR602877.1 CR603259.1 CR605884.1 CR607735.1 CR609355.1 
    CR611495.1 CR620228.1 CR625953.1 J02783.1 X05130.1 X07077.1 

    24/76 DOTS entries (see all 76):

    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.100889274  DT.120894629  DT.100889246  DT.100889236  DT.97864700  DT.95157068  DT.100045570  DT.120894631 

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

    CF140185 BQ892778 BU501923 AU141424 BG261346 BM769781 BG252138 CF132205 
    BP428934 BQ430541 AU121988 BU943493 BU168940 BE868127 CR607735 BU730313 
    AU129763 AW675123 CD513875 CD722403 CA946327 BU543488 BP358956 H45742 

    highest scoring ESTs for P4HB:

    J02783 AA386330 AA386387 AK095938 AL533976 AL537171 AL540807 AL541531 AL541783 AL542214 

    Unigene Cluster for P4HB:

    Prolyl 4-hydroxylase, beta polypeptide
    Hs.464336  [show with all ESTs]
    Unigene Representative Sequence: NM_000918


    GeneLoc Exon Structure

    5/25 Alternative Splicing Database (ASD) splice patterns (SP) for P4HB (see all 25)

    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:                                                                                                                                          

    About this scheme

    ECgene alternative splicing isoforms for P4HB
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000331483(uc002kbm.1 uc002kbn.1) ENST00000415593 ENST00000473021
    ENST00000476482 ENST00000439918 ENST00000474712 ENST00000478034 ENST00000472244
    ENST00000484286 ENST00000477607 ENST00000467086 ENST00000471535 ENST00000466567
    ENST00000450722 ENST00000436463(uc002kbl.1)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    P4HB expression in normal and diseased human tissues

    1  / 2  / 3

    8 probe-sets matching P4HB gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36666_at2, 3 U95-A 1 1.00 1.00 0.96 1.40 M22806 0.20 0.50 0.38 1
    691_g_at2, 3 U95-A 1 1.00 1.00 0.92 1.31 J02783 1.00 0.90 0.95 1
    710_at2, 3 U95-A 1 0.38 1.00 0.62 0.31 J02783 1.00 0.90 0.95 1
    200656_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000918 0.60 1.00 0.82 1
    200654_at2, 3 U133-A 1 0.73 1.00 -- -- J02783 1.00 0.90 0.95 1
    1564494_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    200656_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    200654_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
    About this table

    P4HB for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    P4HB gene expression
    P4HB gene electronic northern expression
    P4HB gene sage expression
    About these images

    CGAP SAGE TAG: CCTGGAAGAG

    SOURCE GeneReport for Unigene cluster: Hs.464336

    Expression variation in blood from EXPOLDB for P4HB

    Primers: OriGene genome-wide validated SYBR primer pairs: P4HB
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for P4HB: PPH19503A
        SABiosciences Custom PCR Arrays for P4HB 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for P4HB gene from 5/24 species (see all 24)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    P4HB1   -- prolyl 4-hydroxylase, beta polypeptide 88.52(n)
    93.5(a)
    483369  XM_540488.2  XP_540488.2 
    chimpanzee
    (Pan troglodytes)
    P4HB1   -- prolyl 4-hydroxylase, beta polypeptide 99.28(n)
    99.61(a)
    454970  XM_001164396.1  XP_001164396.1 
    cow
    (Bos taurus)
    P4HB1   -- prolyl 4-hydroxylase, beta polypeptide 89.57(n)
    95.28(a)
    281373  NM_174135.3  NP_776560.1 
    rat
    (Rattus norvegicus)
    P4hb1   -- prolyl 4-hydroxylase, beta polypeptide 86.69(n)
    94.07(a)
    25506  NM_012998.1  NP_037130.1 
    mouse
    (Mus musculus)
    P4hb1 , 5 11 (84.27 cM)5
    prolyl 4-hydroxylase, beta polypeptide1, 5 86.98(n)1
    94.28(a)1
    184531  NM_011032.21  NP_035162.11 
     AK1413045  AK1465425  (see all 72)
    About this table        Species with no ortholog for P4HB

    ENSEMBL Gene Tree for P4HB (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for P4HB gene
    DNAJC102  TXNDC52  PDIA22  PDILT2  

    P4HB for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/126 NCBI SNPs in P4HB are shown (see all 126)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs83241,2
    C,F79801288(-) CTGGGG/TCCCGG 1 -- ut31 ese33Minor allele frequency- T:0.21MN NA 370
    rs8760161,2
    C79810463(+) ACCTGA/GGCCAC 1 -- int15Minor allele frequency- G:0.33EA NA 1660
    rs8760171,2
    C,F,79810642(+) CTCCCA/GGCCTT 1 -- int18Minor allele frequency- G:0.23NA EA 392
    rs10109541,2
    C,F79817005(+) AAGTCG/AGCAGG 1 -- int15Minor allele frequency- A:0.18MN NA 326
    rs10495991,2
    --79817139(-) GACCTG/AGCCCA 2 /L syn1 ref11Minor allele frequency- A:0.00MN 184
    rs10505971,2
    F79801103(-) CAGTTC/TTTCAG 1 -- ut31 ese31Minor allele frequency- T:0.10MN 184
    rs10634721,2
    --79801271(-) CCTGGG/CCCTTC 1 -- ut31 ese31Minor allele frequency- C:0.00MN 184
    rs10634951,2
    --79801091(-) CATTTC/TTATTT 1 -- ut311Minor allele frequency- T:0.00MN 184
    rs11306641,2
    C,A79818360(-) GCCTGC/ATCCGT 1 -- ut51 ese31Minor allele frequency- A:0.50NA 2
    rs11306741,2
    C,F79803101(-) GTCATT/CGATTA 2 /I syn1 ref113Minor allele frequency- C:0.38EA NA NS 1788
    About this table

    HapMap Linkage Disequilibrium images for P4HB (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for P4HB
         3 CNVs: 30036 73078 5041

    QIAGEN SeqTarget long-range PCR primers for resequencing P4HB 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    P4HB for disorders           About GeneDecksing

    OMIM: 176790

    10/25 Novoseek disease relationships for P4HB gene (see all 25)

    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)
    About this table

    Human Genome Epidemiology (HuGE) Navigator: P4HB (2 documents)

    Export disorders and mutations for P4HB gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

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

    10/531 PubMed articles for P4HB gene, integrated from 7 sources (see all 531):
    (articles sorted by number of sources associating them with P4HB)
    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, 7 Mezghrani A....Miquelis R. (2000)
    2. Is protein disulfide isomerase a redox-dependent molecular chaperone? (PubMed id 12485997)1, 2, 7 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, 7 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, 7 Fenouillet E.... Miquelis R. (2001)
    5. The structure in solution of the B domain of protein disulfide isomerase. (PubMed id 10383197)1, 2, 7 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, 7 Kemmink J.... Creighton T.E. (1996)
    7. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    8. Glycosaminoglycans and protein disulfide isomerase-mediated reduction of HIV Env. (PubMed id 15644496)1, 2 Barbouche R.... Fenouillet E. (2005)
    9. Protein disulfide isomerase. (PubMed id 15158710)1, 2 Wilkinson B. and Gilbert H.F. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

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

      Query String
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    OMIM
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      (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, 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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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     Regulatory tfbs in P4HB promoter
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