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P4HA3 Gene

protein-coding   GIFtS: 49

GC11M073655
prolyl 4-hydroxylase, alpha polypeptide III
(Previous names: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for P4HA3

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
C-P4Halpha(III) 1
EC 1.14.11.2 3
Descriptions
4-PH alpha-3 3
C-P4H alpha III 2
Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit
alpha-3 3
collagen prolyl 4-hydroxylase alpha(III) 2
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline
4-hydroxylase), alpha polypeptide III 1, 2
prolyl 4-hydroxylase, alpha III subunit 2
prolyl 4-hydroxylase, alpha polypeptide III 2
External Ids
HGNC: 301351
Entrez Gene: 2832082
UniProtKB: Q7Z4N83
Ensembl: ENSG000001493807
Search outside databases for aliases for P4HA3 gene

Previous GC identifer: GC11M073705

Summaries
for P4HA3

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

 EntrezGene summary for P4HA3:
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 have been observed, but their
full-length nature has not been determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: P4HA3_HUMAN, Q7Z4N8
Function: Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences
in collagens and other proteins

Genomic Location
for P4HA3

(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 P4HA3 gene  

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13

P4HA3 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 11         GeneLoc Exon Structure

GeneLoc location for GC11M073655:     (about GC identifiers)

Start:
 73,655,350 bp from pter
End:
 73,700,347 bp from pter
Size:
 44,998 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000011.8  NT_033927.7  

Proteins
for P4HA3

(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: P4HA3_HUMAN, Q7Z4N8 (See protein sequence)
Recommended Name: Prolyl 4-hydroxylase subunit alpha-3 precursor  
Size: 544 amino acids; 61126 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Cofactor: Ascorbate
Subunit: Heterotetramer of two alpha-3 chains and two beta chains (the beta chain is the
multi-functional PDI)
Subcellular location: Endoplasmic reticulum lumen (Probable)
Secondary accessions: A0AV13 Q5EBL3 Q5JPA9
Alternative splicing: 2 isoforms:  Q7Z4N8-1   Q7Z4N8-2   

Post-translational modifications:

  • N-glycosylation plays no role in the catalytic activity1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_878907.1  

    ENSEMBL proteins: 
    ENSP00000332170 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse Abcam for Recombinant Proteins
    Human Recombinant Proteins from Abnova (P4HA3)
                  OriGene Purified Recombinant Human Protein: P4HA3 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005788 endoplasmic reticulum lumen IEA--
    About this table

    Antibodies for P4HA3: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for P4HA3
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for P4HA3

    Assays for P4HA3: 
    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

    Protein Domains/
    Families
    for P4HA3

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro domains/families:
     IPR006620 Pro_4_hyd_alph
     IPR013547 Pro_4_hyd_alph_N
     IPR011990 TPR-like_helical
     IPR005123 Oxoglutarate/Fe-dep_Oase


       GeneDecks  P4HA3 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q7Z4N8

    ProtoNet protein and cluster: Q7Z4N8

    1 Blocks protein family: IPB006620 Prolyl 4-hydroxylase

    UniProtKB/Swiss-Prot: P4HA3_HUMAN, Q7Z4N8
    Similarity: Belongs to the P4HA family
    Similarity: Contains 1 PKHD (prolyl/lysyl hydroxylase) domain
    Similarity: Contains 1 TPR repeat

    Gene Function
    for P4HA3

    (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 (P4HA3)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_182904

                  Applied Biosystems Silencer® siRNAs for P4HA3

                  Sigma-Aldrich siRNA and siRNA Panels for P4HA3  
                         Sigma-Aldrich shRNA for P4HA3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_182904
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_182904
                                     untagged cDNA clone in CMV expression vector: NM_182904 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_182904

    UniProtKB/Swiss-Prot: P4HA3_HUMAN, Q7Z4N8
    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 

    1 MGI phenotypic allele for P4ha3 (no phenotypes)


    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 IEA--
    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 & Interactions
    for P4HA3

    (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  P4HA3  (Your Favorite Gene powered by Ingenuity) 
     Arginine and Proline Metabolism

       GeneDecks  P4HA3 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for P4HA3):
     hsa00330 Arginine and proline metabolism

       GeneDecks  P4HA3 for the pathways selected above  
    About GeneDecksing

    5/11 Interacting proteins for P4HA3 (ENSP000003321703) via UniProtKB, MINT, and/or STRING (see all 11 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARS2ENSP000003603273STRING (score=.9)
    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

    Drugs & Compounds
    for P4HA3

    (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 P4HA3

    Transcripts
    for P4HA3

    (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 (P4HA3)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_182904

                  Sigma-Aldrich siRNA and siRNA Panels for P4HA3  
                         Sigma-Aldrich shRNA for P4HA3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_182904  

    REFSEQ mRNAs for P4HA3 gene: 

    NM_182904.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_182904  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_182904
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_182904
                                     untagged cDNA clone in CMV expression vector: NM_182904 

    Additional cDNA sequence: 

    AK300598.1 AL833965.1 AY313448.1 AY327887.1 AY358521.1 BC040582.1 BC089446.1 BC117333.1 
    BC126170.1 CR602823.1 

    4 DOTS entries:

    DT.100738558  DT.40300006  DT.95086478  DT.40268490 

    24/34 AceView cDNA sequences (see all 34 ):

    AI453672 BX103003 AA436079 AI766417 AW205477 BE673358 AW665086 BQ003597 
    AA603812 AA670023 AA435982 AA885145 CA444792 AL573944 AW072783 BF437802 
    BE858966 AI656054 AI741880 CF127238 BE144240 AA116082 AL833965 BF349611 

    highest scoring ESTs for P4HA3:

    AA043201 AY313448 AY327887 AY358521 BE908446 CF131573 CF132558 AL833965 AI741880 AL549943 

    Unigene Cluster for P4HA3:

    Prolyl 4-hydroxylase, alpha polypeptide III
    Hs.660541  [show with all ESTs]
    Unigene Representative Sequence: AL833965


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000331597  

    Expression
    for P4HA3

    (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

    P4HA3 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for P4HA3

    1 / 2 / 3

    3 probe-sets matching P4HA3 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    84983_at2, 3 U95-E 1 1.00 1.00 1.00 1.00 AI741880 0.60 1.00 0.82 1

    		228703_at2, 3 U133-B 1 1.00 1.00 -- -- AW665086 0.40 1.00 0.76 1

    		228703_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  P4HA3 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGTATGGACA

    SOURCE GeneReport for Unigene cluster: Hs.660541

    UniProtKB/Swiss-Prot: P4HA3_HUMAN, Q7Z4N8
    Tissue specificity: Highly expressed in placenta, liver and fetal skin. Weakly expressed in fetal
    epiphyseal cartilage, fetal liver, fibroblast, lung and skeletal muscle. Expressed also in fibrous
    cap of carotid atherosclerotic lesions

    Orthologs
    for P4HA3

    (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 P4HA3 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 P4HA31   -- prolyl 4-hydroxylase, alpha polypeptide III 90.87(n)
    93.01(a)    		 609381  XM_846625.1  XP_851718.1 
    chimpanzee
    (Pan troglodytes)    		 P4HA31   -- prolyl 4-hydroxylase, alpha polypeptide III 99.88(n)
    100(a)    		 748564  XM_001174896.1  XP_001174896.1 
    cow
    (Bos taurus)    		 P4HA31   -- prolyl 4-hydroxylase, alpha polypeptide III 90.07(n)
    91.54(a)    		 414348  NM_001001598.1  NP_001001598.1 
    rat
    (Rattus norvegicus)    		 P4ha31   -- procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline more 87.07(n)
    88.42(a)    		 361612  NM_198775.1  NP_942070.1 
    mouse
    (Mus musculus)    		 P4ha31, 5 75
    		 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline more1, 5 88.13(n)1
    90.22(a)1    		 3204521  NM_177161.31  NP_796135.21 
     AK0864685  AK0867805  (see all 7)
    About this table        Species with no ortholog for P4HA3

    ENSEMBL Gene Tree for P4HA3

    Paralogs
    for P4HA3

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

    Paralogs for P4HA3 gene
    P4HA12  P4HA22  

    SNPs/Variants
    for P4HA3

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


    10/166 NCBI SNPs in P4HA3 are shown (see all 166 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 79)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs22824881,2
    		A,C,F,H,O73665815(-) CTGTTG/AACCCA 1 N/D mis1 ese315Minor allele frequency- A:0.25EA NA EU WA 2798
    rs6709741,2
    		A,C,F,H73701905(+) TGTGGT/CGTCAA 1 -- ng318Minor allele frequency- C:0.08EU EA WA 838
    rs46415111,2
    		A,C,F,H73702091(+) CAGGGA/TATGTG 1 -- ng318Minor allele frequency- T:0.46EU EA WA NA 712
    rs37411321,2
    		A,C,F,H73655891(-) GAAGCC/TAGGAG 1 -- ut31 ese36Minor allele frequency- T:0.31EA EU WA 2076
    --
    rs79479111,2
    		A,C,F73701399(+) ACAAGG/ATTTGG 1 -- ng31 tfbs31Minor allele frequency- A:0.23EA 172
    rs5205231,2
    		C,F,H73702234(+) CCATTT/CTGGCC 1 -- ng314Minor allele frequency- C:0.08EU EA WA 386
    --
    rs79439381,2
    		A,C73700465(+) tccacG/Tccccc 1 -- ng310--------
    --
    rs7525771,2
    		A73701888(-) GGCAAA/TTGCCA 1 -- ng310--------
    rs5136831,2
    		A,C,F,H,O73662041(-) ACCCTC/GAAAGA 1 -- int16Minor allele frequency- G:0.39EU EA WA 2062
    rs5561341,2
    		A,C,F,H,O73666058(+) AACAAT/ACTCAC 1 -- int19Minor allele frequency- A:0.44EU EA WA NA 2012
    About this table

    HapMap Linkage Disequilibrium images for P4HA3 (up to first 250kb)

    Disorders & Mutations
    for P4HA3

    (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: 608987

    Medical News
    for P4HA3

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

    		   --

    Publications
    for P4HA3

    (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

    		7 PubMed articles for P4HA3 gene:

    Search for P4HA3

    (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)

    Genome Databases showing P4HA3

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 283208 HGNC: 30135 AceView: P4HA3 Ensembl:ENSG00000149380 euGenes: HUgn283208
    ECgene: P4HA3 H-InvDB: P4HA3

    Other Databases showing P4HA3

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing P4HA3

    (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

    		   --

    Licensable Technologies
    for P4HA3

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

    		  --

    Services
    for P4HA3

    (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 P4HA3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for P4HA3-related products

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     Millipore Immunoassay Services
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     Predesigned and custom siRNAs for P4HA3 Antibodies for P4HA3
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for P4HA3 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search Tocris compounds for P4HA3




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     Search Novus for antibodies for P4HA3

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