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    P3h1 prolyl 3-hydroxylase 1 [ Mus musculus (house mouse) ]

    Gene ID: 56401, updated on 27-Nov-2024

    Summary

    Official Symbol
    P3h1provided by MGI
    Official Full Name
    prolyl 3-hydroxylase 1provided by MGI
    Primary source
    MGI:MGI:1888921
    See related
    Ensembl:ENSMUSG00000028641 AllianceGenome:MGI:1888921
    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
    Gros1; Lepre1; 2410024C15Rik
    Summary
    Predicted to enable procollagen-proline 3-dioxygenase activity. Acts upstream of or within collagen fibril organization; negative regulation of cell growth; and regulation of ossification. Predicted to be located in basement membrane; cytoplasm; and nucleus. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including alimentary system; genitourinary system; limb mesenchyme; sensory organ; and skeleton. Used to study osteogenesis imperfecta type 8. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 8. Orthologous to human P3H1 (prolyl 3-hydroxylase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 50.3), ovary adult (RPKM 44.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See P3h1 in Genome Data Viewer
    Location:
    4 D2.1; 4 55.34 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (119090112..119106174)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (119232915..119248977)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 269 Neighboring gene expressed sequence AU022252 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:118905472-118905581 Neighboring gene STARR-positive B cell enhancer ABC_E4654 Neighboring gene predicted gene 12927 Neighboring gene claudin 19 Neighboring gene Y box protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E1652

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables procollagen-proline 3-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables procollagen-proline 3-dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basement membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    prolyl 3-hydroxylase 1
    Names
    growth suppressor 1
    leprecan 1
    leucine- and proline-enriched proteoglycan 1
    NP_001035874.1
    NP_001273077.1
    NP_062756.2
    NP_062757.2

    NCBI Reference Sequences (RefSeq)

    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_001042411.1NP_001035874.1  prolyl 3-hydroxylase 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTRs, initiates translation at a downstream start codon and uses alternate splice sites in the 3' coding region, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK010578, AK030436, AK159505, BY240019, CO040878
      Consensus CDS
      CCDS38860.1
      UniProtKB/Swiss-Prot
      Q3V1T4
      Related
      ENSMUSP00000080312.7, ENSMUST00000081606.7
      Conserved Domains (1) summary
      smart00702
      Location:303501
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    2. NM_001286148.1NP_001273077.1  prolyl 3-hydroxylase 1 isoform 4 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses alternate splice sites in the 3' coding region and differs in the 3' UTR, compared to variant 1. It encodes isoform 4, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK010578, AK132262, AK159505, BB617770, CO040878
      Consensus CDS
      CCDS71460.1
      UniProtKB/TrEMBL
      A6PW84
      Related
      ENSMUSP00000030393.7, ENSMUST00000030393.13
      Conserved Domains (1) summary
      smart00702
      Location:489687
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    3. NM_019782.3NP_062756.2  prolyl 3-hydroxylase 1 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK010578, AK030436, CO040878, CX563255
      Consensus CDS
      CCDS18576.1
      UniProtKB/TrEMBL
      A2A7Q5
      Related
      ENSMUSP00000099723.5, ENSMUST00000102662.11
      Conserved Domains (1) summary
      smart00702
      Location:482680
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    4. NM_019783.2NP_062757.2  prolyl 3-hydroxylase 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_062757.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses alternate splice sites in the 3' coding region and differs in the 3' UTR, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK010578, AK030436, CO040878
      Consensus CDS
      CCDS38859.1
      UniProtKB/Swiss-Prot
      A2A7Q4, A6PW85, Q3TWX8, Q3V1T4, Q8BSV2, Q8CFL3, Q9CWK5, Q9QZT6, Q9QZT7
      Related
      ENSMUSP00000112504.3, ENSMUST00000121111.9
      Conserved Domains (1) summary
      smart00702
      Location:482680
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    RNA

    1. NR_149723.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK010578, AK030436, AL606975, CO040878

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      119090112..119106174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)