U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    P3h3 prolyl 3-hydroxylase 3 [ Mus musculus (house mouse) ]

    Gene ID: 14789, updated on 9-May-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    P3h3provided by MGI
    Official Full Name
    prolyl 3-hydroxylase 3provided by MGI
    Primary source
    MGI:MGI:1315208
    See related
    Ensembl:ENSMUSG00000023191 AllianceGenome:MGI:1315208
    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
    Grcb; Leprel2
    Summary
    Predicted to enable procollagen-proline 3-dioxygenase activity. Involved in collagen biosynthetic process and peptidyl-lysine hydroxylation. Part of catalytic complex. Is expressed in several structures, including branchial arch; embryo mesenchyme; genitourinary system; limb primordium; and sensory organ. Orthologous to human P3H3 (prolyl 3-hydroxylase 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in limb E14.5 (RPKM 62.5), ovary adult (RPKM 28.8) and 18 other tissues See more
    Orthologs
    human all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    6 F2; 6 59.17 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (124818052..124834680, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (124841089..124857746, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene cell division cycle associated 3 Neighboring gene guanine nucleotide binding protein (G protein), beta 3 Neighboring gene STARR-positive B cell enhancer ABC_E6487 Neighboring gene predicted gene, 32404 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:124812982-124813183 Neighboring gene G protein-coupled receptor 162 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:124814119-124814302 Neighboring gene CD4 antigen Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:124829493-124829732 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:124836126-124836313

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER. Ishikawa Y, et al. J Biol Chem, 2021 Jan-Jun. PMID 33631195, Free PMC Article
    2. Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues. Vranka J, et al. Cell Struct Funct, 2009. PMID 19652424
    3. P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA. Hudson DM, et al. J Biol Chem, 2017 Mar 3. PMID 28115524, Free PMC Article
    4. LEPREL1, a novel ER and Golgi resident member of the Leprecan family. Järnum S, et al. Biochem Biophys Res Commun, 2004 Apr 30. PMID 15063763
    5. Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes. Vranka JA, et al. J Biol Chem, 2004 May 28. PMID 15044469

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
      Title: Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
    2. both P3h3- and Sc65-null mice displayed a similar pattern of severe under-hydroxylation of lysines, particularly at cross-linking sites in type I collagen from bone, skin, dentin, cornea, and aorta, revealing a complex evolution and interplay between the proteins forming the machinery of collagen prolyl 3-hydroxylation and lysyl hydroxylation in the ER
      Title: P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.
    3. This report characterizes expression of the P3H1, P3H2 and P3H3 genes in embryonic and adult mice.
      Title: Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues.
    4. Study found that all 3 mouse Leprecan genes Lepre1, leprel1 and leprel2 are expressed in the notochord; additionally, they are expressed in dorsal root ganglia, limb buds, branchial arches, and developing kidneys.
      Title: Conservation of notochord gene expression across chordates: insights from the Leprecan gene family.
    Submit: New GeneRIF Correction

    Variation

    Go to the top of the page Help

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    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 3-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in collagen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in collagen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in peptidyl-lysine hydroxylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of catalytic complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    prolyl 3-hydroxylase 3
    Names
    gene rich cluster, B
    leprecan-like protein 2
    protein B
    NP_038562.2

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_013534.5 → NP_038562.2  prolyl 3-hydroxylase 3 precursor

      See identical proteins and their annotated locations for NP_038562.2

      Status: VALIDATED

      Source sequence(s)
      AC142254
      Consensus CDS
      CCDS20533.1
      UniProtKB/Swiss-Prot
      O88836, Q8CG70
      Related
      ENSMUSP00000023958.4, ENSMUST00000023958.10
      Conserved Domains (1) summary
      smart00702
      Location:470 → 670
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    RNA

    1. NR_163804.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC142254
      Related
      ENSMUST00000135127.8

    2. NR_163805.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC142254

    3. NR_163806.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC142254

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      124818052..124834680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CG70.1 GenPept UniProtKB/Swiss-Prot:Q8CG70

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous