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P4HB Gene

protein-coding   GIFtS: 62

GC17M077394
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)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
DSI 1, 2
EC 5.3.4.1 3
ERBA2L 2, 3
GIT 1, 2
P4Hbeta 1, 2
PDI 1, 2, 3
PDIA1 1, 2, 3
PHDB 2
PO4DB 2, 3
PO4HB 1, 2
PROHB 1, 2, 5
p55 3
Descriptions
Cellular thyroid hormone-binding protein 3
Prolyl 4-hydroxylase subunit beta 3
collagen prolyl 4-hydroxylase beta 2
glutathione-insulin transhydrogenase 2
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline
4-hydroxylase), beta polypeptide 1, 2
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline
4-hydroxylase), beta polypeptide (protein disulfide
isomerase-associated 1) 1
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline
4-hydroxylase), beta polypeptide (protein disulfide
isomerase; thyroid hormone binding protein p55) 1
prolyl 4-hydroxylase, beta polypeptide 2
prolyl 4-hydroxylase, beta subunit 2
protein disulfide isomerase family A, member 1 2
protein disulfide isomerase-associated 1 2
protein disulfide isomerase/oxidoreductase 2
protocollagen hydroxylase 2
thyroid hormone-binding protein p55 2
v-erb-a avian erythroblastic leukemia viral oncogene
homolog 2-like 2
External Ids
HGNC: 85481
Entrez Gene: 50342
UniProtKB: P072373
Ensembl: ENSG000001856247
Search outside databases for aliases for P4HB gene

Previous GC identifers: GC17M079210 GC17M9I0021 GC17M080336

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

EntrezGene 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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the P4HB gene  

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)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M077394:     (about GC identifiers)

Start:
77,394,323 bp from pter
End:
77,411,833 bp from pter
Size:
17,511 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010663.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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: P30037 P32079 Q15205 Q6LDE5

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000909.2  

    ENSEMBL proteins: 
    ENSP00000327801 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for 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
    Recombinant Proteins from Abcam (P4HB)
    Human Recombinant Proteins from Abnova (P4HB)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region NAS14718574
    GO:0005783 endoplasmic reticulum TAS3034602
    GO:0005788 endoplasmic reticulum lumen IEA--
    GO:0005792 microsome IEA--
    GO:0005793 ER-Golgi intermediate compartment IDA15308636
    About this table

    Antibodies for P4HB: 
    Browse Antibodies Central at Invitrogen
    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)
    Antibodies from Abcam (P4HB), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (P4HB)
    Novus Biologicals Antibodies for PDIA1

    Assays for P4HB: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/8 InterPro domains/families (see all 8 ):
     IPR005788 Disulphide_isomerase
     IPR012335 Thioredoxin_fold
     IPR013766 Thioredoxin_domain
     IPR017937 Thioredoxin_CS
     IPR000886 ER_targeting_sequence


       GeneDecks  P4HB for the domains selected above  
    About GeneDecksing

    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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (P4HB)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (P4HB)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000918

                  Applied Biosystems Silencer® siRNAs for P4HB

                  Sigma-Aldrich siRNA and siRNA Panels for P4HB  
                         Sigma-Aldrich shRNA Panels and shRNA for P4HB  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for P4HB
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000918
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000918
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000918 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000918

    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 

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

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003756 protein disulfide isomerase activity TAS2846539
    GO:0004656 procollagen-proline 4-dioxygenase activity IDA7753822
    GO:0005515 protein binding IPI17055437 17353931
    GO:0016853 isomerase activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


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

       GeneDecks  P4HB for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  P4HB 


    5/45 Interacting proteins for P4HB (P072371, 2 ENSP000003278013) via UniProtKB, MINT, and/or STRING (see all 45 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERO1LQ96HE72, ENSP000003520443MINT-15901 STRING (score=.992)
    CD2BP2O954001EBI-395883, EBI-768015
    CUL2Q136171EBI-395883, EBI-456179
    EIF4A2Q142401EBI-395883, EBI-73473
    ELF3P785451EBI-395883, EBI-1057285
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA7753822
    GO:0045454 cell redox homeostasis IEA--
    About this table
    (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

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

    Browse Tocris compounds for P4HB
    10/46 Novoseek chemical compound relationships for P4HB gene (see all 46 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    dithiol 72.64 11 2025221 (2), 16142915 (1), 12892495 (1), 7913469 (1) (see all 7)
    gssg 64.64 12 2025221 (2), 12485997 (2), 9034346 (1), 1988050 (1) (see all 7)
    dtnb 60.75 4 9834122 (1), 19091013 (1), 16507315 (1)
    glyceraldehyde 3-phosphate 51.65 18 11233170 (2), 11488911 (2), 9016829 (1), 11503214 (1) (see all 13)
    dithiothreitol 49.56 6 11796709 (1), 10622730 (1), 2025221 (1), 8645293 (1) (see all 6)
    cystamine 48.99 3 7530195 (1), 16914140 (1), 18618447 (1)
    procollagen 47.14 15 10648804 (3), 9006916 (2), 11509234 (2), 8780163 (1) (see all 7)
    hydroxyproline 46.36 4 8196176 (1), 18189422 (1)
    proline 31.78 2 7856409 (1), 9545296 (1)
    cystine 24.40 2 17522051 (1), 7721838 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    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 Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (P4HB)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (P4HB)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000918

                  Sigma-Aldrich siRNA and siRNA Panels for P4HB  
                         Sigma-Aldrich shRNA Panels and shRNA for P4HB  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000918  

    REFSEQ mRNAs for P4HB gene: 

    NM_000918.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000918  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000918
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000918
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000918 

    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 

    24/75 DOTS entries (see all 75 ):

    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.97864700  DT.100889236  DT.95157068  DT.120894631  DT.92467933 

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

    BU542129 AU122327 BQ669097 BG261346 CF139145 CF264994 BQ918012 CR602877 
    BP358241 CB162824 BU501923 CA946820 BP358977 BM917557 BM459387 BE732042 
    BG249783 BF993728 BQ685635 BQ960170 BQ880395 BP336247 BU169235 AU121988 

    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

    1 Ensembl transcript including schematic representation:
    ENST00000331483  
    (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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    P4HB expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for P4HB

    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

    710_at2, 3 U95-A 1 1.00 1.00 0.62 0.31 J02783 1.00 0.90 0.95 1

    691_g_at2, 3 U95-A 2 1.00 0.53 0.92 1.31 J02783 1.00 0.90 0.95 1

    36666_at2, 3 U95-A 2 1.00 0.50 0.96 1.40 M22806 0.20 0.50 0.38 1

    200654_at2, 3 U133-A 2 1.00 0.68 -- -- J02783 1.00 0.90 0.95 1

    200656_s_at2, 3 U133-A 2 1.00 0.55 -- -- NM_000918 0.60 1.00 0.82 1

    200654_at2 U133Plus2 2 1.00 0.68 -- -- -- -- -- -- --

    1564494_s_at2 U133Plus2 2 1.00 0.59 -- -- -- -- -- -- --

    200656_s_at2 U133Plus2 2 1.00 0.55 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCTGGAAGAG

    SOURCE GeneReport for Unigene cluster: Hs.464336

    Expression variation in blood from EXPOLDB for P4HB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, 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 (80.00 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 73)
    About this table        Species with no ortholog for P4HB

    ENSEMBL Gene Tree for P4HB
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for P4HB gene
    PDIA22  PDILT2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/55 NCBI SNPs in P4HB are shown (see all 55 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 9)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs28894061,2
    C,F77413243(-) tgtccT/Cccagc 1 -- ng313Minor allele frequency- C:0.20NA 118
    --
    rs11306641,2
    A,C77411649(-) GCCTGA/CTCCGT 1 -- ut51 ese30--------
    --
    rs83241,2
    F77394577(-) CTGGGA/G/TCCCGG 1 -- ut31 ese32MN 368
    --
    rs10505971,2
    F77394392(-) CAGTTC/TTTCAG 1 -- ut31 ese31Minor allele frequency- T:0.10MN 184
    rs22777061,2
    F77394960(+) TGGGCT/GGCCTG 1 -- ut31 ese31Minor allele frequency- G:0.23EA 1460
    --
    rs20708711,2
    C,F,H77398423(-) GTCATC/TGAGTT 1 I/I syn111Minor allele frequency- T:0.13NA EU EA WA 968
    --
    rs11306741,2
    C77396390(-) GTCATT/CGATTA 1 I/I syn111Minor allele frequency- C:0.38EA NA EU WA 1778
    --
    rs15337561,2
    A,C,F77410215(+) CCCGGC/TCTGAG 1 -- int15Minor allele frequency- N:0.01MN EA NA 390
    rs8760171,2
    C,F77403931(+) CTCCCA/GGCCTT 1 -- int16Minor allele frequency- G:0.22NA EA 384
    --
    rs20708721,2
    C,F77398010(-) TGGACT/CGGATC 1 -- int11Minor allele frequency- C:0.33EA 1308
    About this table

    HapMap Linkage Disequilibrium images for P4HB (up to first 250kb)

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

    OMIM: 176790

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

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatitis halothane 65.68 3 8406360 (2), 8415876 (1)
    abetalipoproteinemia 61.73 1 7782284 (1)
    hypoxia ischemia brain 52.29 2 10744727 (1), 15147878 (1)
    psach 41.91 2 11691584 (1), 16286662 (1)
    shock 37.50 28 10079081 (1), 12748950 (1), 17067859 (1), 17996735 (1) (see all 23)
    neurodegenerative diseases 31.19 1 17163772 (1)
    erythroleukemia 19.56 3 9927500 (1)
    fibrosarcoma 8.25 4 11206065 (1), 9891011 (1), 11493694 (1)
    cancer 4.41 2 7966454 (1)
    thrombosis 4.19 1 18759277 (1), 19294693 (1)
    About this table

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

      --

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

    10/474 PubMed articles for P4HB gene (see all 474 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 5034 HGNC: 8548 AceView: P4HB Ensembl:ENSG00000185624 euGenes: HUgn5034
    ECgene: P4HB 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

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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