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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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:147909753-147936767 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 78.57 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    355 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99907
protein coding gene Chr4:147909753-147936776 (-)
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
    9
  • Human Ortholog
    PLOD1, procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EDS6, EDSKCL1, LH, LH1, LLH, PLOD
  • Links
    NCBI Gene ID: 5351
    neXtProt AC: NX_Q02809
    UniProt: Q02809

  • Chr Location
    1p36.22; chr1:11934667-11975542 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Plod1 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
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
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    2 images
    12 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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
    Molecular
    Reagents
    less
    • All nucleic 138
      cDNA 136
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16704, MGI:1913722, MGI:2140400, MGI:2140511
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 8
      Phenotypes 12
    • 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:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    01/08/2019
    MGI 6.13
    The Jackson Laboratory