Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



P4HTM Gene

protein-coding   GIFtS: 50
GCID: GC03P049027

Prolyl 4-Hydroxylase, Transmembrane (Endoplasmic Reticulum)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Prolyl 4-Hydroxylase, Transmembrane (Endoplasmic Reticulum)1 2     EGLN42
PH42 3 5     HIFPH42
Hypoxia Inducible Factor Prolyl 4 Hydroxylase1 2     PH-42
Prolyl Hydroxlase Domain-Containing 41 2     PHD42
Hypoxia-Inducible Factor Prolyl Hydroxylase 42 3     Hypoxia-Inducible Factor Prolyl 4-Hydroxylase2
HIF-PH42 3     P4H With Transmembrane Domain2
HPH-42 3     Proline 4-Hydroxylase2
P4H-TM2 3     Transmembrane Prolyl 4-Hydroxylase2
HIF-Prolyl Hydroxylase 42 3     EC 1.14.11.-3

External Ids:    HGNC: 288581   Entrez Gene: 546812   Ensembl: ENSG000001784677   OMIM: 6145845   UniProtKB: Q9NXG63   

Export aliases for P4HTM gene to outside databases

Previous GC identifer: GC03P049004


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

TryGeneCards Plus

Entrez Gene summary for P4HTM Gene:
The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that
may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in
adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding
different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for P4HTM Gene:
P4HTM (prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)) is a protein-coding gene. Diseases associated with P4HTM include laryngotracheitis, and farber lipogranulomatosis. GO annotations related to this gene include L-ascorbic acid binding and calcium ion binding.

UniProtKB/Swiss-Prot: P4HTM_HUMAN, Q9NXG6
Function: Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha
proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under
normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von
Hippel-Lindau ubiquitination complex




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the P4HTM gene promoter:
         NF-1   AML1a   STAT5A   Evi-1   HEN1   POU2F1   POU2F1a   c-Myb   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidP4HTM promoter sequence
   Search Chromatin IP Primers for P4HTM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat P4HTM


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

Entrez Gene cytogenetic band: 3p21.31|3p21.3   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

P4HTM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
P4HTM gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P049027:  view genomic region     (about GC identifiers)

Start:
49,027,319 bp from pter      End:
49,044,587 bp from pter
Size:
17,269 bases      Orientation:
plus 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: P4HTM_HUMAN, Q9NXG6 (See protein sequence)
Recommended Name: Transmembrane prolyl 4-hydroxylase  
Size: 502 amino acids; 56661 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (By similarity)
Cofactor: Ascorbate (By similarity)
Subunit: Homodimer
Sequence caution: Sequence=AAH60321.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAA91045.1;
Type=Erroneous initiation; Sequence=CAD28518.2; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: Q6PAG6 Q8TCJ9 Q8WV55 Q96F22 Q9BW77
Alternative splicing: 3 isoforms:  Q9NXG6-1   Q9NXG6-2   Q9NXG6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for P4HTM: NX_Q9NXG6

Explore proteomics data for P4HTM at MOPED

Post-translational modifications: 

  • Glycosylated1
  • Glycosylation2 at Asn348, Asn368, Asn382
  • Modification sites at PhosphoSitePlus

  • See P4HTM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_808807.2  NP_808808.1  

    ENSEMBL proteins: 
     ENSP00000373235   ENSP00000341422   ENSP00000477191   ENSP00000398554   ENSP00000476303  
     ENSP00000476858  

    P4HTM Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for P4HTM
    OriGene Custom MassSpec
    OriGene Custom Protein Services for P4HTM
    GenScript Custom Purified and Recombinant Proteins Services for P4HTM
    Novus Biologicals P4HTM Protein
    Novus Biologicals P4HTM Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for P4HTM

    P4HTM Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for P4HTM
    OriGene Custom Antibody Services for P4HTM
    Novus Biologicals P4HTM Antibodies
    Abcam antibodies for P4HTM
    Cloud-Clone Corp. Antibodies for P4HTM
    ThermoFisher Antibodies for P4HTM
    LSBio Antibodies in human, mouse, rat for P4HTM

    P4HTM Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for P4HTM
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for P4HTM
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for P4HTM
    Cloud-Clone Corp. CLIAs for P4HTM


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

    TryGeneCards Plus
    5 InterPro protein domains:
     IPR006620 Pro_4_hyd_alph
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS
     IPR005123 Oxoglu/Fe-dep_dioxygenase

    Graphical View of Domain Structure for InterPro Entry Q9NXG6

    ProtoNet protein and cluster: Q9NXG6

    UniProtKB/Swiss-Prot: P4HTM_HUMAN, Q9NXG6
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 1 Fe2OG dioxygenase domain


    P4HTM 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P4HTM_HUMAN, Q9NXG6
    Function: Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha
    proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under
    normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von
    Hippel-Lindau ubiquitination complex
    Catalytic activity: An HIF alpha chain L-proline + 2-oxoglutarate + O(2) = An HIF alpha chain
    trans-4-hydroxy-L-proline + succinate + CO(2)
    Induction: By hypoxia in many cultured cell lines

         Enzyme Number (IUBMB): EC 1.14.11.-1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0005509calcium ion binding IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016706oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors IEA--
         
    P4HTM for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for P4HTM
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for P4HTM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for P4HTM
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for P4HTM

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat P4HTM using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate P4HTM:
    hsa-miR-31
    SwitchGear 3'UTR luciferase reporter plasmidP4HTM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for P4HTM
    Predesigned siRNA for gene silencing in human, mouse, rat P4HTM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for P4HTM

    Clone
    Products:
         
    OriGene clones in human, mouse for P4HTM (see all 13)
    OriGene ORF clones in mouse, rat for P4HTM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): P4HTM (NM_177939)
    Sino Biological Human cDNA Clone for P4HTM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for P4HTM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat P4HTM

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for P4HTM
    Browse ESI BIO Cell Lines and PureStem Progenitors for P4HTM 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P4HTM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    P4HTM_HUMAN, Q9NXG6: Endoplasmic reticulum membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    P4HTM 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).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for P4HTM
    Interactions:

        Search GeneGlobe Interaction Network for P4HTM

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for P4HTM (Q9NXG63 ENSP000003414224) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD1DP158133, ENSP000003571534I2D: score=1 STRING: ENSP00000357153
    CELA3AENSP000002901224STRING: ENSP00000290122
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0055114oxidation-reduction process ----

    P4HTM 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for P4HTM

    3 HMDB Compounds for P4HTM    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    Hydroxyproline(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid (see all 21)51-35-4--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--

    1 DrugBank Compound for P4HTM    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin CAscorbate (see all 6)50-81-7target--17139284 17016423

    5 Novoseek inferred chemical compound relationships for P4HTM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oddd 89.2 1 16885164 (1)
    proline 67.9 14 8546682 (4), 12163023 (2), 2165882 (2), 1314568 (2) (see all 8)
    procollagen 56.6 2 2165882 (1), 8789253 (1)
    hydroxyproline 44.8 1 9566669 (1)
    oxygen 2.55 2 12163023 (1), 17725546 (1)



    P4HTM for compounds           About GeneDecksing



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for P4HTM gene (3 alternative transcripts): 
    NM_177938.2  NM_177939.2  NM_017732.3  

    Unigene Cluster for P4HTM:

    Prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
    Hs.654944  [show with all ESTs]
    Unigene Representative Sequence: NM_177938
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000383729(uc003cvg.3) ENST00000343546(uc003cvh.3) ENST00000472301
    ENST00000484115 ENST00000609406 ENST00000475629 ENST00000444213 ENST00000468374
    ENST00000486817 ENST00000485210(uc010hkm.1) ENST00000491739 ENST00000472796

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat P4HTM using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate P4HTM:
    hsa-miR-31
    SwitchGear 3'UTR luciferase reporter plasmidP4HTM 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for P4HTM
    Predesigned siRNA for gene silencing in human, mouse, rat P4HTM
    Clone
    Products:
         
    OriGene clones in human, mouse for P4HTM (see all 13)
    OriGene ORF clones in mouse, rat for P4HTM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): P4HTM (NM_177939)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for P4HTM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat P4HTM
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for P4HTM
    OriGene qSTAR qPCR primer pairs in human, mouse for P4HTM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat P4HTM
      QuantiTect SYBR Green Assays in human, mouse, rat P4HTM
      QuantiFast Probe-based Assays in human, mouse, rat P4HTM

    Additional mRNA sequence: 

    AK309082.1 AY198406.1 BC000580.1 BC011710.2 BC060321.1 

    24 DOTS entries:

    DT.95349477  DT.100802023  DT.97847888  DT.316345  DT.70104324  DT.100802029  DT.100704306  DT.95109644 
    DT.100844859  DT.120852521  DT.120852409  DT.95109635  DT.120852595  DT.120852492  DT.100640989  DT.100802035 
    DT.40127203  DT.120852692  DT.100802034  DT.432254  DT.75142172  DT.95184786  DT.120852661  DT.97847890 

    Selected AceView cDNA sequences (see all 273):

    CB306798 BU625064 BM830210 BX101979 BM544406 BF914343 BC060321 AI292138 
    CA776096 CA390089 AA894806 AI283789 BQ575905 AI075797 BQ478529 BU752330 
    BM832305 BQ448601 CD672751 AI866020 CA390456 AW272627 BM691715 AA938018 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for P4HTM (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
    SP1:                    -           -                                               -                           
    SP2:                    -           -           -                                                               
    SP3:                    -     -     -                                                                           
    SP4:                                -                                                                           
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for P4HTM

    (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)
    About This Section

    TryGeneCards Plus

    P4HTM expression in normal human tissues (normalized intensities)      P4HTM embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATTTATTG
    P4HTM Expression
    About this image


    P4HTM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) 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
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells (family)
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    P4HTM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    P4HTM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654944

    UniProtKB/Swiss-Prot: P4HTM_HUMAN, Q9NXG6
    Tissue specificity: Widely expressed with highest levels in adult pancreas, heart, skeletal muscle, brain,
    placenta, kidney and adrenal gland. Expressed at lower levels in epiphyseal cartilage and in fibroblasts

        Custom PCR Arrays for P4HTM
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for P4HTM
    OriGene qSTAR qPCR primer pairs in human, mouse for P4HTM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat P4HTM
    QuantiTect SYBR Green Assays in human, mouse, rat P4HTM
    QuantiFast Probe-based Assays in human, mouse, rat P4HTM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P4HTM

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for P4HTM gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia P4htm1 , 5 prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)1, 5 86.32(n)1
    91.24(a)1
      9 (59.52 cM)5
    744431  NM_028944.31  NP_083220.31 
     1085788265 
    chicken
    (Gallus gallus)
    Aves P4HTM1 prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 75.87(n)
    76.52(a)
      100859583  XM_003642013.1  XP_003642061.1 
    lizard
    (Anolis carolinensis)
    Reptilia P4HTM6
    prolyl 4-hydroxylase, transmembrane (endoplasmic r...
    63(a)
    1 ↔ 1
    2(187767514-187813492)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia p4htm1 prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 67.23(n)
    67.94(a)
      100486123  XM_002933057.2  XP_002933103.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7999301 transmembrane prolyl 4-hydroxylase-like 60.43(n)
    57.49(a)
      799930  XM_001340198.2  XP_001340234.2 


    ENSEMBL Gene Tree for P4HTM (if available)
    TreeFam Gene Tree for P4HTM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for P4HTM (see all 251)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1476355281,2
    --49025542(+) GTGTAA/CGAATG 2 -- us2k10--------
    rs1828596091,2
    --49025582(+) CAGATA/TTTATG 2 -- us2k10--------
    rs1159318801,2
    C,F--49025625(+) GGGCCG/AGTCGC 2 -- us2k11Minor allele frequency- A:0.06NA 120
    rs1870780631,2
    --49025772(+) GGCACA/GTGCCT 2 -- us2k10--------
    rs1422418271,2
    C--49026037(+) TTGGTC/GTGGGT 2 -- us2k10--------
    rs1899802291,2
    --49026160(+) AAAAAC/TATAAA 2 -- us2k10--------
    rs1822604931,2
    --49026191(+) GGGCAC/TCTGTA 2 -- us2k10--------
    rs2012543691,2
    --49026332(+) AAAAA-/TTATAAT 2 -- us2k10--------
    rs2019172651,2
    C--49026333(+) AAATT-/AAAA  
            
    ATAAT
    2 -- us2k10--------
    rs126392861,2
    H--49026390(+) aattgC/Gcccgc 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for P4HTM (49027319 - 49044587 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for P4HTM:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv876764CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing P4HTM
    DNA2.0 Custom Variant and Variant Library Synthesis for P4HTM

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 614584    OMIM disorders: --

    17 diseases for P4HTM:    About MalaCards
    laryngotracheitis    farber lipogranulomatosis    lipogranulomatosis    hypoxia
    hypertrophic scars    dermatofibrosarcoma protuberans    dermatofibrosarcoma    keloids
    kaposi's sarcoma    leiomyoma    tonsillitis    sarcoma
    hiv-1    endotheliitis    cerebritis    thyroiditis
    prostatitis


    P4HTM for disorders           About GeneDecksing


    Export disorders for P4HTM 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for P4HTM gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with P4HTM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Overexpression of PH-4, a novel putative proline 4-hydroxylase, modulates activity of hypoxia-inducible transcription factors. (PubMed id 12163023)1, 2, 3, 9 Oehme F.... Flamme I. (Biochem. Biophys. Res. Commun. 2002)
    2. An endoplasmic reticulum transmembrane prolyl 4-hydroxylase is induced by hypoxia and acts on hypoxia-inducible factor alpha. (PubMed id 17726031)1, 2, 3 Koivunen P.... Myllyharju J. (J. Biol. Chem. 2007)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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)
    5. The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity. (PubMed id 23864651)1 Huang X....Wheeler M.B. (Mol. Endocrinol. 2013)
    6. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    7. Brain transcriptome-wide screen for HIV-1 Nef protein interaction partners reveals various membrane-associated proteins. (PubMed id 23284715)1 Kammula E.C....Willbold D. (PLoS ONE 2012)
    8. Human prolyl hydroxylase expression in uterine leiomyoma during the menstrual cycle. (PubMed id 23241241)1 Iwahashi M....Ino K. (amp 2012)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 54681 HGNC: 28858 AceView: PH-4 Ensembl:ENSG00000178467 euGenes: HUgn54681
    ECgene: P4HTM H-InvDB: P4HTM

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for P4HTM Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for P4HTM gene:
    Search GeneIP for patents involving P4HTM

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for P4HTM   OriGene RNAi products in human, mouse, rat for P4HTM  
     OriGene qPCR primer pairs and template standards for P4HTM   OriGene Protein Over-expression Lysate for P4HTM  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for P4HTM  
     OriGene qSTAR qPCR primer pairs in human, mouse for P4HTM   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for P4HTM   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for P4HTM   OriGene Custom Protein Services for P4HTM  

     
     
     Block miRNA regulation of human, mouse, rat P4HTM using miScript Target Protectors SeqTarget long-range PCR primers for resequencing P4HTM
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat P4HTM Predesigned siRNA for gene silencing in human, mouse, rat P4HTM
     QuantiFast Probe-based Assays in human, mouse, rat P4HTM QuantiTect SYBR Green Assays in human, mouse, rat P4HTM
     Custom PCR Arrays for P4HTM Search Chromatin IP Primers for P4HTM
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat P4HTM  Search GeneGlobe Interaction Network for P4HTM
     Regulatory tfbs in P4HTM promoter
     GenScript Custom Purified and Recombinant Proteins Services for P4HTM GenScript cDNA clones with any tag delivered in your preferred vector for P4HTM
     GenScript Custom Assay Services for P4HTM GenScript Custom overexpressing Cell Line Services for P4HTM
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for P4HTM
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for P4HTM
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     P4HTM antibodies
     P4HTM proteins
     P4HTM lysates
     Antibodies for P4HTM
     See all of Abcam's Antibodies, Kits and Proteins for P4HTM
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for P4HTM
     Antibodies for P4HTM
     ELISAs for P4HTM
     CLIAs for P4HTM



     Browse ESI BIO Cell Lines and PureStem Progenitors for P4HTM
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P4HTM
     SwitchGear 3'UTR luciferase reporter plasmids for P4HTM
     SwitchGear Promoter luciferase reporter plasmids for P4HTM
     ThermoFisher Antibodies for P4HTM
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat P4HTM
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for P4HTM
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for P4HTM
     LSBio Antibodies in human, mouse, rat for P4HTM
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      P4HTM gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4