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P4HA1 Gene

protein-coding   GIFtS: 60

GC10M074436
prolyl 4-hydroxylase, alpha polypeptide I
(Previous names: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: P4HA)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
C-P4Halpha(I) 1, 2
EC 1.14.11.2 3
P4HA 2, 3, 5
Descriptions
4-PH alpha-1 3
Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit
alpha-1 3
collagen prolyl 4-hydroxylase alpha(I) 2
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline
4-hydroxylase), alpha polypeptide I 1, 2
prolyl 4-hydroxylase, alpha I subunit 2
prolyl 4-hydroxylase, alpha polypeptide I 2
External Ids
HGNC: 85461
Entrez Gene: 50332
UniProtKB: P136743
Ensembl: ENSG000001228847
Search outside databases for aliases for P4HA1 gene

Previous GC identifers: GC10M073545 GC10M073870 GC10M074660 GC10M074111

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

EntrezGene summary for P4HA1:
This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed
of two identical alpha subunits and two beta subunits. The encoded protein is one of several
different types of alpha subunits and provides the major part of the catalytic site of the active
enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of
4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized
procollagen chains. Alternatively spliced transcript variants encoding different isoforms have
been described. [provided by RefSeq]

UniProtKB/Swiss-Prot: P4HA1_HUMAN, P13674
Function: Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences
in collagens and other proteins

Gene Wiki entry for P4HA1

(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 P4HA1 gene  

Entrez Gene cytogenetic band: 10q21.3-q23.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q21.3-q23.1

P4HA1 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 10         GeneLoc Exon Structure

GeneLoc location for GC10M074436:     (about GC identifiers)

Start:
74,436,981 bp from pter
End:
74,526,630 bp from pter
Size:
89,650 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000010.9  NT_008583.16  
(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)
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UniProtKB/Swiss-Prot: P4HA1_HUMAN, P13674 (See protein sequence)
Recommended Name: Prolyl 4-hydroxylase subunit alpha-1 precursor  
Size: 534 amino acids; 61049 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Cofactor: Ascorbate
Subunit: Heterotetramer of two alpha-1 chains and two beta chains (the beta chain is the
multi-functional PDI)
Subcellular location: Endoplasmic reticulum lumen
PDB structures from and Proteopedia :
1TJC (3D)    
Secondary accessions: Q15082 Q15083 Q5VSQ5
Alternative splicing: 2 isoforms:  P13674-1   P13674-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (4 alternative transcripts): 
    NP_000908.2  NP_001017962.1  NP_001136067.1  NP_001136068.1  


    ENSEMBL proteins: 
    ENSP00000378353 ENSP00000307318 ENSP00000362099 ENSP00000263556 


    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  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (P4HA1)
    Human Recombinant Proteins from Abnova (P4HA1)
                   OriGene Purified Recombinant Human Proteins (see all 2): P4HA1  

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion IDA18029348
    GO:0005783 endoplasmic reticulum TAS2543975
    GO:0005788 endoplasmic reticulum lumen IEA--
    About this table

    Antibodies for P4HA1: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of P4HA1
    Sigma-Aldrich Antibodies for P4HA1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (P4HA1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (P4HA1)
    Novus Biologicals Antibodies for P4HA1

    Assays for P4HA1: 
    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

    5/6 InterPro domains/families (see all 6 ):
     IPR006620 Pro_4_hyd_alph
     IPR013547 Pro_4_hyd_alph_N
     IPR011990 TPR-like_helical
     IPR005123 Oxoglutarate/Fe-dep_Oase
     IPR013026 TPR_region


       GeneDecks  P4HA1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P13674

    ProtoNet protein and cluster: P13674

    2 Blocks protein families:
    IPB006620 Prolyl 4-hydroxylase
    IPB013547 Prolyl 4-hydroxylase alpha-subunit


    UniProtKB/Swiss-Prot: P4HA1_HUMAN, P13674
    Similarity: Belongs to the P4HA family
    Similarity: Contains 1 PKHD (prolyl/lysyl hydroxylase) domain
    Similarity: Contains 1 TPR repeat

    (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 (P4HA1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_000917

                  Applied Biosystems Silencer® siRNAs for P4HA1

                  Sigma-Aldrich siRNA and siRNA Panels for P4HA1  
                         Sigma-Aldrich shRNA for P4HA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for P4HA1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000917
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000917
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_000917 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001017962

    UniProtKB/Swiss-Prot: P4HA1_HUMAN, P13674
    Function: Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences
    in collagens and other proteins
    Catalytic activity: Procollagen L-proline + 2-oxoglutarate + O(2) = procollagen
    trans-4-hydroxy-L-proline + succinate + CO(2)
    Enzyme Number (IUBMB): EC 1.14.11.2 

    Genatlas biochemistry entry for P4HA1:
    procollagen-proline,2-oxoglutarate 4-dioxygenase (prolyl-4-hydroxylase),alpha polypeptide,isoform
    1,component of the heterodimer (alpha 1) 2,beta 2,type I,enzyme inhibited by poly (L-proline)

    7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for P4ha1):

    cellularembryogenesisgrowth/sizelethality-prenatal/perinatal
    otherskin/coat/nails

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004656 procollagen-proline 4-dioxygenase activity TAS2543975
    GO:0005488 binding IEA--
    GO:0005506 iron ion binding IEA--
    GO:0016491 oxidoreductase activity IEA--
    GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 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


    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  P4HA1  (Your Favorite Gene powered by Ingenuity) 
     Arginine and Proline Metabolism

       GeneDecks  P4HA1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for P4HA1):
     hsa00330 Arginine and proline metabolism

       GeneDecks  P4HA1 for the pathways selected above  
    About GeneDecksing

    5/14 Interacting proteins for P4HA1 (ENSP000003620993) via UniProtKB, MINT, and/or STRING (see all 14 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARS2ENSP000003603273STRING (score=.912)
    ALDH4A1ENSP000002905973STRING (score=.899)
    EPRSENSP000003558903STRING (score=.899)
    LAP3ENSP000002262993STRING (score=.899)
    PRODHENSP000003347263STRING (score=.899)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019538 protein metabolic process IEA--
    GO:0055114 oxidation reduction 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 P4HA1

    (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 (P4HA1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_000917

                  Sigma-Aldrich siRNA and siRNA Panels for P4HA1  
                         Sigma-Aldrich shRNA for P4HA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000917  NM_001017962  NM_001142595  NM_001142596  

    REFSEQ mRNAs for P4HA1 gene (4 alternative transcripts): 

    NM_000917.3   NM_001017962.2   NM_001142595.1   NM_001142596.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000917  NM_001017962  NM_001142595  NM_001142596  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000917
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000917
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_000917 

    Additional cDNA sequence: 

    AK123653.1 AK222960.1 AK312593.1 BC034998.1 BX648829.1 CR590114.1 M24486.1 M24487.1 

    17 DOTS entries:

    DT.101983410  DT.99944438  DT.100793094  DT.452516  DT.91867531  DT.97793771  DT.121301381  DT.100782196 
    DT.100793096  DT.121301410  DT.121301432  DT.121301453  DT.40226814  DT.97803495  DT.121301418  DT.95171545 
    DT.92432123 

    24/230 AceView cDNA sequences (see all 230 ):

    AI128777 BX489858 AI858630 AU121350 AL701971 AL701340 BU743221 BU167243 
    BM710650 AU279754 BG230763 CD013930 CD013931 AL550156 BP337008 BM930020 
    CB156311 N88160 AI139319 AA336955 CD013928 AI061083 BQ217818 BM691656 

    highest scoring ESTs for P4HA1:

    M24486 AA279041 AL598620 AL701971 AL702003 AL702270 BQ421908 BX496553 AA083833 AA165549 

    Unigene Cluster for P4HA1:

    Prolyl 4-hydroxylase, alpha polypeptide I
    Hs.500047  [show with all ESTs]
    Unigene Representative Sequence: BX648829


    GeneLoc Exon Structure

    4 Ensembl transcripts including schematic representations:
    ENST00000394890  ENST00000307116  ENST00000373008  ENST00000263556  
    (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

    P4HA1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for P4HA1

    1 / 2 / 3

    6 probe-sets matching P4HA1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    37037_at2, 3 U95-A 1 1.00 1.00 0.52 1.49 M24486 1.00 0.87 0.94 1

    88134_at*2, 3 U95-D 1 1.00 1.00 0.91 0.55 AA581869 0.60 1.00 0.82 1

    207543_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000917 0.60 1.00 0.82 1

    243335_at*2 U133-B NULL 0.00 0.00 -- -- -- -- -- -- --

    207543_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    243335_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGACATTAGT

    SOURCE GeneReport for Unigene cluster: Hs.500047

    Expression variation in blood from EXPOLDB for P4HA1

    (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 P4HA1 gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    P4HA11   -- prolyl 4-hydroxylase, alpha polypeptide I 94.32(n)
    98.31(a)
    479242  XM_857164.1  XP_862257.1 
    chimpanzee
    (Pan troglodytes)
    P4HA11   -- prolyl 4-hydroxylase, alpha polypeptide I 99.94(n)
    100(a)
    450891  XM_001141043.1  XP_001141043.1 
    cow
    (Bos taurus)
    P4HA11   -- prolyl 4-hydroxylase, alpha polypeptide I 94.82(n)
    97.75(a)
    518288  NM_001075770.1  NP_001069238.1 
    rat
    (Rattus norvegicus)
    P4ha11   -- procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline more 88.2(n)
    94.01(a)
    64475  NM_172062.2  NP_742059.2 
    mouse
    (Mus musculus)
    P4ha11, 5 105
    procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline more1, 5 89.26(n)1
    95.32(a)1
    184511  NM_011030.11  NP_035160.11 
     AI3140285  AK0305745  (see all 23)
    About this table        Species with no ortholog for P4HA1

    ENSEMBL Gene Tree for P4HA1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for P4HA1 gene
    P4HA32  P4HA22  

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


    10/360 NCBI SNPs in P4HA1 are shown (see all 360 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 120)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs83801,2
    A,C,F,H,O74437341(-) TTTAAT/CGGAAA 4 -- ut31 ese38Minor allele frequency- C:0.26MN NA EU EA WA 740
    rs79183961,2
    A,C,F,H74527553(+) TTTTTT/CCCTTG 2 -- ng31 trp313Minor allele frequency- C:0.21EU EA WA NA MN 2212
    --
    rs103061,2
    C,F,H74437408(-) TTTCTT/CTTAGC 4 -- ut31 trp35Minor allele frequency- C:0.02MN EU EA WA 576
    rs169302621,2
    F,H74437701(+) TTATCC/TAACCA 4 -- ut317Minor allele frequency- T:0.19NA EU EA WA 558
    --
    rs79083741,2
    F,H74436875(+) AAGAGT/CATAAA 2 -- ng514Minor allele frequency- C:0.06EU EA WA 420
    rs79014811,2
    F,H74527190(+) taagaG/Actcca 2 -- ng314Minor allele frequency- A:0.01EU EA WA 418
    --
    rs44052311,2
    A,C74504657(+) GAAGAC/TTTAAT 4 -- ut51 ese30--------
    rs122632201,2
    H74526734(+) CCAGCG/TCCCCG 4 -- ut513Minor allele frequency- T:0.00EU EA 300
    rs283844951,2
    F74526582(-) TCCGAG/CTGGAG 4 -- ut51 ese32Minor allele frequency- C:0.18MN EA 1252
    --
    rs129711,2
    C74437400(-) AGCTCC/TTCTGT 4 -- ut31 ese31Minor allele frequency- T:0.00MN 184
    About this table

    HapMap Linkage Disequilibrium images for P4HA1 (up to first 250kb)

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

    OMIM: 176710

    (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

    10/22 PubMed articles for P4HA1 gene (see all 22 ):
    (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: 5033 HGNC: 8546 AceView: P4HA1 Ensembl:ENSG00000122884 euGenes: HUgn5033
    ECgene: P4HA1 H-InvDB: P4HA1
    (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



    Products for P4HA1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for P4HA1 Antibodies for P4HA1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for P4HA1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for P4HA1




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