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    P4htm prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) [ Mus musculus (house mouse) ]

    Gene ID: 74443, updated on 4-May-2024

    Summary

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    Official Symbol
    P4htmprovided by MGI
    Official Full Name
    prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)provided by MGI
    Primary source
    MGI:MGI:1921693
    See related
    Ensembl:ENSMUSG00000006675 AllianceGenome:MGI:1921693
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ph-4; HPH-4; P4H-TM; HIF-PH4; 4933406E20Rik
    Summary
    Predicted to enable procollagen-proline 4-dioxygenase activity. Acts upstream of or within regulation of erythrocyte differentiation. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. Orthologous to human P4HTM (prolyl 4-hydroxylase, transmembrane). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cerebellum adult (RPKM 20.3), cortex adult (RPKM 20.0) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 F2; 9 59.52 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (108456025..108475482, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (108578862..108598195, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3863 Neighboring gene DALR anticodon binding domain containing 3 Neighboring gene microRNA 425 Neighboring gene STARR-seq mESC enhancer starr_25213 Neighboring gene WD repeat domain 6 Neighboring gene STARR-seq mESC enhancer starr_25214 Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:108551788-108551897 Neighboring gene STARR-seq mESC enhancer starr_25220 Neighboring gene STARR-positive B cell enhancer ABC_E8317 Neighboring gene solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Lack of P4H-TM in mice results in age-related retinal and renal alterations. Leinonen H, et al. Hum Mol Genet, 2016 Sep 1. PMID 27466183
    2. Effect of adiponectin overexpression on stability of preexisting plaques by inducing prolyl-4-hydroxylase expression. Li L, et al. Circ J, 2010 Mar. PMID 20075561
    3. Transmembrane Prolyl 4-Hydroxylase is a Novel Regulator of Calcium Signaling in Astrocytes. Byts N, et al. eNeuro, 2021 Jan-Feb. PMID 33298456, Free PMC Article
    4. Null mutation in P4h-tm leads to decreased fear and anxiety and increased social behavior in mice. Leinonen H, et al. Neuropharmacology, 2019 Jul 15. PMID 31029587
    5. Transmembrane prolyl 4-hydroxylase is a fourth prolyl 4-hydroxylase regulating EPO production and erythropoiesis. Laitala A, et al. Blood, 2012 Oct 18. PMID 22955912

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The knock-out of P4H-TM was linked to decreased fear and anxiety and increased social behavior.
      Title: Null mutation in P4h-tm leads to decreased fear and anxiety and increased social behavior in mice.
    2. Results show that P4h-tm is expressed to a high degree in the mouse retinal pigment epithelium (RPE) and brain. P4h-tm-/- mice develop age-related renal dysfunction, resulting in proteinuria and impaired RPE functions, which eventually lead to an AMD-like pathology.
      Title: Lack of P4H-TM in mice results in age-related retinal and renal alterations.
    3. Adiponectin increases collagen production by inducing the expression of P4H, which may play a major role in the development of the thick fibrous cap of advanced atherosclerotic plaque
      Title: Effect of adiponectin overexpression on stability of preexisting plaques by inducing prolyl-4-hydroxylase expression.
    4. chronic stabilization of Hif-1alpha and Hif-2alpha by genetic knockdown of Hif-p4h-2 promotes cardioprotection by induction of many genes involved in glucose metabolism, cardiac function, and blood pressure.
      Title: Hearts of hypoxia-inducible factor prolyl 4-hydroxylase-2 hypomorphic mice show protection against acute ischemia-reperfusion injury.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC130597

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 2-oxoglutarate-dependent dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hypoxia-inducible factor-proline dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables procollagen-proline 4-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane prolyl 4-hydroxylase
    Names
    HIF-prolyl hydroxylase 4
    hypoxia-inducible factor prolyl hydroxylase 4
    NP_001344394.1
    NP_083220.3
    XP_011241216.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001357465.1 → NP_001344394.1  transmembrane prolyl 4-hydroxylase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK046783, BF471971, CT571271
      UniProtKB/TrEMBL
      A0A0A6YX56
      Related
      ENSMUSP00000141843.2, ENSMUST00000193621.2
      Conserved Domains (1) summary
      PLN00052
      Location:136 → 216
      PLN00052; prolyl 4-hydroxylase; Provisional

    2. NM_028944.4 → NP_083220.3  transmembrane prolyl 4-hydroxylase isoform 1

      See identical proteins and their annotated locations for NP_083220.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK046783, BE944288
      Consensus CDS
      CCDS23533.1
      UniProtKB/Swiss-Prot
      Q8BG58, Q8CAF1, Q9D499
      UniProtKB/TrEMBL
      Q2M2M8
      Related
      ENSMUSP00000006853.6, ENSMUST00000006853.11
      Conserved Domains (3) summary
      smart00702
      Location:247 → 459
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam13499
      Location:193 → 253
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:195 → 253
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RNA

    1. NR_151688.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      CT571271

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      108456025..108475482 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242914.3 → XP_011241216.1  transmembrane prolyl 4-hydroxylase isoform X1

      Conserved Domains (2) summary
      smart00702
      Location:82 → 294
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam13499
      Location:28 → 88
      EF-hand_7; EF-hand domain pair
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BG58.1 GenPept UniProtKB/Swiss-Prot:Q8BG58

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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