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    Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 [ Mus musculus (house mouse) ]

    Gene ID: 18822, updated on 2-Nov-2024

    Summary

    Official Symbol
    Plod1provided by MGI
    Official Full Name
    procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1provided by MGI
    Primary source
    MGI:MGI:99907
    See related
    Ensembl:ENSMUSG00000019055 AllianceGenome:MGI:99907
    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
    Lh1; Plod; 2410042F05Rik
    Summary
    Predicted to enable several functions, including L-ascorbic acid binding activity; ferrous iron binding activity; and procollagen-lysine 5-dioxygenase activity. Predicted to be involved in collagen fibril organization; epidermis development; and peptidyl-lysine hydroxylation. Located in collagen-containing extracellular matrix. Part of catalytic complex. Is expressed in several structures, including alimentary system; brain; branchial arch; sensory organ; and skeleton. Used to study Ehlers-Danlos syndrome. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome kyphoscoliotic type 1. Orthologous to human PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 37.9), placenta adult (RPKM 37.2) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Plod1 in Genome Data Viewer
    Location:
    4 E1; 4 78.57 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (147994210..148021233, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (147909753..147936776, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene Friend virus susceptibility 1 Neighboring gene mitofusin 2 Neighboring gene STARR-positive B cell enhancer ABC_E9625 Neighboring gene STARR-seq mESC enhancer starr_12062 Neighboring gene RIKEN cDNA 2510039O18 gene Neighboring gene STARR-positive B cell enhancer ABC_E2145 Neighboring gene natriuretic peptide type B

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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)

    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 L-ascorbic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ferrous iron binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptide binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables procollagen-lysine 5-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables procollagen-lysine 5-dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables procollagen-lysine 5-dioxygenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in collagen fibril organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in epidermis development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermis development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peptidyl-lysine hydroxylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peptidyl-lysine hydroxylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of catalytic complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in rough endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
    NP_035252.1

    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_011122.3NP_035252.1  procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 precursor

      See identical proteins and their annotated locations for NP_035252.1

      Status: VALIDATED

      Source sequence(s)
      AI834765, AK003529, AK137480, BY312508
      Consensus CDS
      CCDS18924.1
      UniProtKB/Swiss-Prot
      Q9R0E2
      UniProtKB/TrEMBL
      Q3UE11
      Related
      ENSMUSP00000019199.8, ENSMUST00000019199.14
      Conserved Domains (1) summary
      smart00702
      Location:563726
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    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
      147994210..148021233 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)