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P4HA1 Gene

protein-coding   GIFtS: 61
GCID: GC10M074769

Prolyl 4-Hydroxylase, Alpha Polypeptide I

(Previous names: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline...)
(Previous symbol: P4HA)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Prolyl 4-Hydroxylase, Alpha Polypeptide I1 2     EC 1.14.11.23 8
P4HA1 2 3 5     C-P4Halpha(I)2
Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase),
Alpha Polypeptide I1 2
     Prolyl 4-Hydroxylase Subunit Alpha-12
Collagen Prolyl 4-Hydroxylase Alpha(I)1 2     4-PH Alpha-13
Procollagen-Proline,2-Oxoglutarate-4-Dioxygenase Subunit Alpha-12 3     

External Ids:    HGNC: 85461   Entrez Gene: 50332   Ensembl: ENSG000001228847   OMIM: 1767105   UniProtKB: P136743   

Export aliases for P4HA1 gene to outside databases

Previous GC identifers: GC10M073545 GC10M073870 GC10M074660 GC10M074111 GC10M074436 GC10M074767 GC10M068760


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for P4HA1 Gene:
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, Jul 2008)

GeneCards Summary for P4HA1 Gene:
P4HA1 (prolyl 4-hydroxylase, alpha polypeptide I) is a protein-coding gene. Diseases associated with P4HA1 include labyrinthitis, and hypoxia. GO annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and iron ion binding. An important paralog of this gene is P4HA3.

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 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the P4HA1 gene promoter:
         Nkx3-1   RP58   MAZR   Nkx3-1 v1   CUTL1   Tal-1beta   E47   Nkx3-1 v2   HFH-1   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidP4HA1 promoter sequence
   Search Chromatin IP Primers for P4HA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat P4HA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
P4HA1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M074769:  view genomic region     (about GC identifiers)

Start:
74,766,975 bp from pter      End:
74,856,732 bp from pter
Size:
89,758 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
Selected PDB 3D structures from and Proteopedia for P4HA1 (see all 7):
1TJC (3D)        2V5F (3D)        2YQ8 (3D)        4BT8 (3D)        4BT9 (3D)        4BTA (3D)    
Secondary accessions: C9JL12 Q15082 Q15083 Q5VSQ5
Alternative splicing: 3 isoforms:  P13674-1   P13674-2   P13674-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for P4HA1: NX_P13674

Explore proteomics data for P4HA1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys132
  • Glycosylation2 at Asn113, Asn259
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for P4HA1 (P13674) (see all 22)
     FPNDEDQ  LWMEQAL  LQVANYG  KWVSNKW 


    See P4HA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000307318   ENSP00000362099   ENSP00000411688   ENSP00000378353   ENSP00000263556  
     ENSP00000414464  

    P4HA1 Human Recombinant Protein Products:

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    Novus Biologicals P4HA1 Protein
    Novus Biologicals P4HA1 Lysates
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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

    P4HA1 Antibody Products:

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    Abcam antibodies for P4HA1
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    ThermoFisher Antibodies for P4HA1
    LSBio Antibodies in human, mouse, rat for P4HA1

    P4HA1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for P4HA1
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR006620 Pro_4_hyd_alph
     IPR011990 TPR-like_helical
     IPR013547 Pro_4_hyd_alph_N
     IPR005123 Oxoglu/Fe-dep_dioxygenase
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry P13674

    ProtoNet protein and cluster: P13674

    2 Blocks protein domains:
    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 Fe2OG dioxygenase domain
    Similarity: Contains 1 TPR repeat


    P4HA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

         Enzyme Number (IUBMB): EC 1.14.11.21 2

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004656procollagen-proline 4-dioxygenase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI17500595
    GO:0016491oxidoreductase activity ----
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA--
         
    P4HA1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for P4ha1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  integument 
     limbs/digits/tail  mortality/aging  other 

    P4HA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for P4HA1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for P4HA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for P4HA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target P4HA1:
    hsa-mir-122-5p (MIRT007082), hsa-mir-941 (MIRT036574), hsa-mir-320a (MIRT044845), hsa-mir-877-3p (MIRT036866), hsa-mir-335-5p (MIRT018997)

    Block miRNA regulation of human, mouse, rat P4HA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate P4HA1 (see all 22):
    hsa-miR-3910 hsa-miR-30c hsa-miR-3152-3p hsa-miR-30d hsa-miR-197 hsa-miR-124 hsa-miR-499-5p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidP4HA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for P4HA1
    Predesigned siRNA for gene silencing in human, mouse, rat P4HA1

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for P4HA1 (see all 22)
    OriGene ORF clones in mouse, rat for P4HA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): P4HA1 (NM_001142596)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for P4HA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat P4HA1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for P4HA1
    Browse ESI BIO Cell Lines and PureStem Progenitors for P4HA1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P4HA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    P4HA1_HUMAN, P13674: Endoplasmic reticulum lumen
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion4
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005788endoplasmic reticulum lumen IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    P4HA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for P4HA1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.38
    2Arginine and proline metabolism
    Arginine and proline metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for P4HA1):
        Arginine and proline metabolism
    Metabolic pathways


    P4HA1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including P4HA1: 
              Amino Acid Metabolism I in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for P4HA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for P4HA1 (P136743 ENSP000002635564) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206454Q018603I2D: score=2 
    ENSG00000229094Q018603I2D: score=2 
    ENSG00000230336Q018603I2D: score=2 
    ENSG00000233911Q018603I2D: score=2 
    ENSG00000235068Q018603I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0018401peptidyl-proline hydroxylation to 4-hydroxy-L-proline IEA--
    GO:0030199collagen fibril organization IEA--
    GO:0055114oxidation-reduction process ----

    P4HA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for P4HA1

    8 HMDB Compounds for P4HA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Hydroxyproline(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid (see all 21)51-35-4--
    IronArmco iron (see all 19)7439-89-6--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    OxygenOxygen (see all 5)7782-44-7--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--

    4 DrugBank Compounds for P4HA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Hydralazine-- 86-54-4targetinhibitor15192023 856725 11752352 2994564
    L-Proline(-)-2-Pyrrolidinecarboxylic acid (see all 6)147-85-3target--17139284 17016423
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--17139284 17016423
    Vitamin CAscorbate (see all 6)50-81-7target--17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for P4HA1 gene (4 alternative transcripts): 
    NM_000917.3  NM_001017962.2  NM_001142595.1  NM_001142596.1  

    Unigene Cluster for P4HA1:

    Prolyl 4-hydroxylase, alpha polypeptide I
    Hs.500047  [show with all ESTs]
    Unigene Representative Sequence: BX648829
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000307116 ENST00000373008 ENST00000464310 ENST00000412021(uc010qka.2)
    ENST00000394890(uc021ptk.1 uc001jtg.3) ENST00000263556(uc021ptj.1 uc001jth.3)
    ENST00000440381(uc010qkb.2)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate P4HA1 (see all 22):
    hsa-miR-3910 hsa-miR-30c hsa-miR-3152-3p hsa-miR-30d hsa-miR-197 hsa-miR-124 hsa-miR-499-5p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidP4HA1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat P4HA1
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      QuantiTect SYBR Green Assays in human, mouse, rat P4HA1
      QuantiFast Probe-based Assays in human, mouse, rat P4HA1

    Additional mRNA sequence: 

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

    16 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.97803495  DT.121301418  DT.40226814  DT.95171545 

    Selected AceView cDNA sequences (see all 230):

    N88160 BE503121 BM930020 BP337008 CB127627 CN482819 CD013931 AI819518 
    BM477296 CD013929 BX489858 BM710650 AI128777 AA336955 AI094377 AA399556 
    AL702003 BX106944 BG230763 AL701971 CB156311 CD013928 BU167243 AU117496 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    P4HA1 expression in normal human tissues (normalized intensities)      P4HA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    P4HA1 Expression
    About this image


    P4HA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    P4HA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    P4HA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.500047
        Pathway & Disease-focused RT2 Profiler PCR Arrays including P4HA1: 
              Amino Acid Metabolism I in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for P4HA1
    OriGene qSTAR qPCR primer pairs in human, mouse for P4HA1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat P4HA1
    QuantiTect SYBR Green Assays in human, mouse, rat P4HA1
    QuantiFast Probe-based Assays in human, mouse, rat P4HA1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P4HA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for P4HA1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia P4ha11 , 5 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline more1, 5 89.26(n)1
    95.32(a)1
      10 (29.52 cM)5
    184511  NM_011030.21  NP_035160.11 
     593232965 
    chicken
    (Gallus gallus)
    Aves P4HA11 prolyl 4-hydroxylase, alpha polypeptide I 80.91(n)
    87.9(a)
      423704  NM_001198738.1  NP_001185667.1 
    lizard
    (Anolis carolinensis)
    Reptilia P4HA16
    prolyl 4-hydroxylase, alpha polypeptide I
    85(a)
    1 ↔ 1
    3(52507353-52562013)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420212462   -- 78.84(n)    142021246 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.39322 Danio rerio cDNA clone MGC56058 IMAGE3820527, complete more 75.56(n)    BC045890.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta PH4alphaEFB1 , 3 peptidyl-proline hydroxylation to
    4-hydroxy-L-proline
    more3
    prolyl-4-hydroxylase-alpha EFB1
    52(a)
    (best of 9)3
    52.29(n)1
    50(a)1
      99F63
    436201  NM_170492.21  NP_733371.11 
    worm
    (Caenorhabditis elegans)
    Secernentea phy-21 , 3 prolyl 4-hydroxylase alpha subunit3
    phy-21
    46(a)3
    54.45(n)1
    49.12(a)1
      IV(12211385-12216159)3
    1781701  NM_069916.31  NP_502317.11 


    ENSEMBL Gene Tree for P4HA1 (if available)
    TreeFam Gene Tree for P4HA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for P4HA1 gene
    P4HA32  P4HA22  
    3 SIMAP similar genes for P4HA1 using alignment to 2 protein entries:     P4HA1_HUMAN (see all proteins):
    P4HA2    DKFZp686M0919    P4HA3

    P4HA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for P4HA1 (see all 1988)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs710215441,2
    C--68766204(-) TCTCT-/TCCTGCTA 4 -- int11Minor allele frequency- TCC:0.00NA 2
    rs1413817431,2
    --74766574(+) CAGGCA/GTGCAC 4 -- ds50010--------
    rs1832307861,2
    --74766589(+) ACACCC/TGGCTA 4 -- ds50010--------
    rs1888335991,2
    --74766653(+) CGAACC/TCCTAG 4 -- ds50010--------
    rs1125288751,2
    C,F--74766671(+) TGATCC/TGCCTG 4 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1841907691,2
    C--74766720(+) CACCAG/TGCCTG 4 -- ds50010--------
    rs1865860961,2
    --74766815(+) CTTCAC/GAGAGC 4 -- ds50010--------
    rs79083741,2
    C,F,H--74766869(+) AAGAGT/CATAAA 4 -- ds500113Minor allele frequency- C:0.14NS EA NA CSA WA 1487
    rs1507173581,2
    --74766875(+) ATAAAC/GCTAAG 4 -- ds50010--------
    rs1911808551,2
    C--74766948(+) AAATAC/TGAAAA 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for P4HA1 (74766975 - 74856732 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for P4HA1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3968CNV Deletion18987735
    esv1950559CNV Deletion18987734
    esv2738418CNV Deletion23290073
    esv2738407CNV Deletion23290073
    esv2591982CNV Deletion19546169
    esv9433CNV Loss19470904
    nsv895725CNV Loss21882294
    nsv527219CNV Loss19592680
    nsv895726CNV Loss21882294
    nsv895724CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing P4HA1
    DNA2.0 Custom Variant and Variant Library Synthesis for P4HA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176710    OMIM disorders: --

    8 diseases for P4HA1:    About MalaCards
    labyrinthitis    hypoxia    osteoarthritis    cystic fibrosis
    arthritis    alzheimer's disease    hepatitis    malaria


    P4HA1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): P4HA1
    Human Genome Epidemiology (HuGE) Navigator: P4HA1 (2 documents)

    Export disorders for P4HA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for P4HA1 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with P4HA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    3. 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. (Genome Res. 2004)
    4. PCR isolation and cloning of novel splice variant mRNAs from known drug target genes. (PubMed id 15028279)1, 2 Jin P.... Stuve L.L. (Genomics 2004)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    6. Structure and expression of the human gene for the alpha subunit of prolyl 4-hydroxylase. The two alternatively spliced types of mRNA correspond to two homologous exons the sequences of which are expressed in a variety of tissues. (PubMed id 7961714)1, 2 Helaakoski T.... Pihlajaniemi T. (J. Biol. Chem. 1994)
    7. Assignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1. (PubMed id 2556027)1, 3 Pajunen L....Kivirikko K.I. (Am. J. Hum. Genet. 1989)
    8. Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts. (PubMed id 2543975)1, 2 Helaakoski T.... Pihlajaniemi T. (Proc. Natl. Acad. Sci. U.S.A. 1989)
    9. The order and transcriptional orientation of the human COL13A1 and P4HA genes on chromosome 10 long arm determined by high-resolution FISH. (PubMed id 9417920)1, 9 Horelli-Kuitunen N....Palotie A. (Genomics 1997)
    10. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 5033 HGNC: 8546 AceView: P4HA1 Ensembl:ENSG00000122884 euGenes: HUgn5033
    ECgene: P4HA1 Kegg: 5033 H-InvDB: P4HA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for P4HA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for P4HA1 gene:
    Search GeneIP for patents involving P4HA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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