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

Gene ID: 74443, updated on 11-Apr-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

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