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Plod1 Gene Detail
Summary
  • Symbol
    Plod1
  • Name
    procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
  • Synonyms
    2410042F05Rik, LH1, lysyl hydroxylase 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:99907
    NCBI Gene: 18822
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:147994210-148021224 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 78.57 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    370 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99907
 protein coding gene Chr4:147994210-148021233 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029110
 protein coding gene Chr4:151593612-151620531 (-)
A/J MGP_AJ_G0029075
 protein coding gene Chr4:145318202-145348335 (-)
AKR/J MGP_AKRJ_G0029023
 protein coding gene Chr4:149279920-149308996 (-)
BALB/cJ MGP_BALBcJ_G0029091
 protein coding gene Chr4:145839743-145866871 (-)
C3H/HeJ MGP_C3HHeJ_G0028812
 protein coding gene Chr4:149836831-149863683 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029540
 protein coding gene Chr4:157114956-157141936 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026786
 protein coding gene Chr4:137746008-137774018 (-)
CAST/EiJ MGP_CASTEiJ_G0028225
 protein coding gene Chr4:147017475-147047870 (-)
CBA/J MGP_CBAJ_G0028774
 protein coding gene Chr4:161632503-161659364 (-)
DBA/2J MGP_DBA2J_G0028922
 protein coding gene Chr4:145429987-145457005 (-)
FVB/NJ MGP_FVBNJ_G0028887
 protein coding gene Chr4:144514869-144542533 (-)
LP/J MGP_LPJ_G0029013
 protein coding gene Chr4:151540653-151567519 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028914
 protein coding gene Chr4:164979448-165006309 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029572
 protein coding gene Chr4:149760540-149788451 (-)
PWK/PhJ MGP_PWKPhJ_G0027945
 protein coding gene Chr4:141411240-141438417 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027779
 protein coding gene Chr4:144020853-144049670 (-)
WSB/EiJ MGP_WSBEiJ_G0028305
 protein coding gene Chr4:149898945-149925733 (-)



Homology
more
  • Human Ortholog
    PLOD1, procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PLOD1, procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
  • Synonyms
    EDS6, EDSKCL1, LH, LH1, LLH, PLOD
  • Links
    NCBI Gene ID: 5351
    neXtProt AC: NX_Q02809
    UniProt: Q02809

  • Chr Location
    1p36.22; chr1:11934205-11975538 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Plod1 mouse models; 1 with human PLOD1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    2 images
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit hypotonia, reduced voluntary movement, abnormal aorta and skin collagen fibers, irregular vascular smooth muscle and premature death associated with thoracic cavity hemorrhage and aortic dissection.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    997
  • Tissues
    153
  • cDNA Data
    136
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019055 Ensembl Gene Model | MGI Sequence Detail 27015 C57BL/6J ±  kb
    transcript ENSMUST00000019199 Ensembl | MGI Sequence Detail 3243 Not Applicable  
    polypeptide ENSMUSP00000019199 Ensembl | MGI Sequence Detail 728 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000012876 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
      (term hierarchy)
    • EC
      1.14.11.4
    • InterPro Domains
      IPR050757 Collagen-modifying Glycosyltransferase 25
      IPR044861 Isopenicillin N synthase-like, Fe(2+) 2OG dioxygenase domain
      IPR029044 Nucleotide-diphospho-sugar transferases
      IPR005123 Oxoglutarate/iron-dependent dioxygenase
      IPR001006 Procollagen-lysine 5-dioxygenase, conserved site
      IPR006620 Prolyl 4-hydroxylase, alpha subunit
    • GlyGen
      Q9R0E2 3 sites, 5 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 139
      cDNA 136
      Primer pair 1
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16704, MGI:1913722, MGI:2140400, MGI:2140511
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 11
      Diseases 1
      Gene Ontology 10
      Phenotypes 20
    • Earliest
      J:488 Hautala T, et al., Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3----p36.2. Genomics. 1992 May;13(1):62-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory