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    P4ha3 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III [ Mus musculus (house mouse) ]

    Gene ID: 320452, updated on 11-Apr-2024

    Summary

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    Official Symbol
    P4ha3provided by MGI
    Official Full Name
    procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide IIIprovided by MGI
    Primary source
    MGI:MGI:2444049
    See related
    Ensembl:ENSMUSG00000051048 AllianceGenome:MGI:2444049
    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
    D930031A02Rik
    Summary
    Predicted to enable procollagen-proline 4-dioxygenase activity. Predicted to be involved in peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including central nervous system; ear; genitourinary system; respiratory system; and skeleton. Orthologous to human P4HA3 (prolyl 4-hydroxylase subunit alpha 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in limb E14.5 (RPKM 12.1), CNS E14 (RPKM 3.2) and 11 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See P4ha3 in Genome Data Viewer
    Location:
    7 E2; 7 54.34 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (99934637..99968908)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (100285489..100319701)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 34877 Neighboring gene phosphoglucomutase 2-like 1 Neighboring gene STARR-seq mESC enhancer starr_19666 Neighboring gene glutathione peroxidase 2, pseudogene 1 Neighboring gene STARR-positive B cell enhancer ABC_E4953 Neighboring gene protein phosphatase methylesterase 1 Neighboring gene STARR-positive B cell enhancer ABC_E2243 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:107520817-107520926 Neighboring gene C2 calcium-dependent domain containing 3 Neighboring gene STARR-seq mESC enhancer starr_19668 Neighboring gene predicted gene 10603

    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. Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme. Kukkola L, et al. J Biol Chem, 2003 Nov 28. PMID 14500733
    2. Deletion of the T-box transcription factor gene, Tbx1, in mice induces differential expression of genes associated with cleft palate in humans. Funato N, et al. Arch Oral Biol, 2018 Nov. PMID 30121012
    3. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article
    4. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. analysis of collagen prolyl 4-hydroxylase isoenzyme 3, its expression and catalytic properties
      Title: Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Endonuclease-mediated (1) 

    General gene information

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    Homology

    Clone Names

    • MGC99449

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 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
    		  
    enables procollagen-proline 4-dioxygenase activity ISO
    Inferred from Sequence Orthology
    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
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    prolyl 4-hydroxylase subunit alpha-3
    Names
    4-PH alpha-3
    collagen prolyl 4-hydroxylase alpha 3
    procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-3
    NP_796135.3
    XP_006508007.1
    XP_036009059.1

    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_177161.4 → NP_796135.3  prolyl 4-hydroxylase subunit alpha-3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC122269
      Consensus CDS
      CCDS21496.1
      UniProtKB/Swiss-Prot
      Q640R2, Q6W3F0, Q8C3A6
      UniProtKB/TrEMBL
      H7BX23
      Related
      ENSMUSP00000055297.6, ENSMUST00000057023.12
      Conserved Domains (2) summary
      smart00702
      Location:354 → 526
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:31 → 157
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      99934637..99968908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006507944.5 → XP_006508007.1  prolyl 4-hydroxylase subunit alpha-3 isoform X1

      UniProtKB/Swiss-Prot
      Q640R2, Q6W3F0, Q8C3A6
      Conserved Domains (2) summary
      smart00702
      Location:363 → 535
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:31 → 157
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    2. XM_036153166.1 → XP_036009059.1  prolyl 4-hydroxylase subunit alpha-3 isoform X2

      Conserved Domains (1) summary
      pfam08336
      Location:32 → 106
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    RNA

    1. XR_004934118.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6W3F0.1 GenPept UniProtKB/Swiss-Prot:Q6W3F0

    Gene LinkOut

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

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