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    P3H1 prolyl 3-hydroxylase 1 [ Homo sapiens (human) ]

    Gene ID: 64175, updated on 7-Oct-2018

    Summary

    Official Symbol
    P3H1provided by HGNC
    Official Full Name
    prolyl 3-hydroxylase 1provided by HGNC
    Primary source
    HGNC:HGNC:19316
    See related
    Ensembl:ENSG00000117385 MIM:610339; Vega:OTTHUMG00000007525
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OI8; GROS1; LEPRE1
    Summary
    This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in placenta (RPKM 18.9), testis (RPKM 10.8) and 24 other tissues See more
    Orthologs

    Genomic context

    See P3H1 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (42746335..42767084, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43212006..43232755, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Y-box binding protein 1 Neighboring gene claudin 19 Neighboring gene chromosome 1 open reading frame 50 Neighboring gene uncharacterized LOC105378683

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC117314

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to collagen binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    procollagen-proline 3-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    procollagen-proline 3-dioxygenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein-containing complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    bone development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chaperone-mediated protein folding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    collagen metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    collagen metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of post-translational protein modification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-proline hydroxylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein folding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein hydroxylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    membrane HDA PubMed 
    protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    prolyl 3-hydroxylase 1
    Names
    growth suppressor 1
    leprecan
    leucine proline-enriched proteoglycan (leprecan) 1
    leucine- and proline-enriched proteoglycan 1
    procollagen-proline 3-dioxygenase
    NP_001139761.1
    NP_001230175.1
    NP_071751.3
    XP_005271167.1
    XP_011540250.1
    XP_016857540.1
    XP_016857541.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_008123.1 RefSeqGene

      Range
      5001..25750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_5

    mRNA and Protein(s)

    1. NM_001146289.1NP_001139761.1  prolyl 3-hydroxylase 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001139761.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 3, and isoform 2 is a likely cause of a recessive form of osteogenesis imperfecta (OI).
      Source sequence(s)
      BC108311, BE675748, DC404420, R67284
      Consensus CDS
      CCDS53307.1
      UniProtKB/Swiss-Prot
      Q32P28
      Related
      ENSP00000380245.3, ENST00000397054.7
      Conserved Domains (1) summary
      smart00702
      Location:479677
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    2. NM_001243246.1NP_001230175.1  prolyl 3-hydroxylase 1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC098484, AK027648, AK027697, DC404420, R67284
      Consensus CDS
      CCDS57986.1
      UniProtKB/Swiss-Prot
      Q32P28
      Related
      ENSP00000236040.4, OTTHUMP00000008736, ENST00000236040.8, OTTHUMT00000019791
      Conserved Domains (1) summary
      smart00702
      Location:479677
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    3. NM_022356.3NP_071751.3  prolyl 3-hydroxylase 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_071751.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 3.
      Source sequence(s)
      AC098484, AK027697, R67284
      Consensus CDS
      CCDS472.2
      UniProtKB/Swiss-Prot
      Q32P28
      Related
      ENSP00000296388.5, OTTHUMP00000008735, ENST00000296388.9, OTTHUMT00000019790
      Conserved Domains (1) summary
      smart00702
      Location:479677
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      42746335..42767084 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002051.2XP_016857540.1  prolyl 3-hydroxylase 1 isoform X1

      Conserved Domains (1) summary
      smart00702
      Location:154352
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    2. XM_017002052.2XP_016857541.1  prolyl 3-hydroxylase 1 isoform X2

      Conserved Domains (1) summary
      smart00702
      Location:153351
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    3. XM_005271110.2XP_005271167.1  prolyl 3-hydroxylase 1 isoform X3

      Conserved Domains (1) summary
      smart00702
      Location:143341
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    4. XM_011541948.1XP_011540250.1  prolyl 3-hydroxylase 1 isoform X1

      See identical proteins and their annotated locations for XP_011540250.1

      Conserved Domains (1) summary
      smart00702
      Location:154352
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    RNA

    1. XR_946739.2 RNA Sequence

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