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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
Location & Maps
more
  • Sequence Map
    Chr4:147909753-147936767 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27015 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 78.57 cM
  • Mapping Data
    4 experiments
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
  • Synonyms
    EDS6, LH, LH1, LLH, PLOD
  • Links
    NCBI Gene ID: 5351
    neXtProt AC: NX_Q02809

  • Chr Location
    1p36.22; chr1:11934667-11975542 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Plod1 mouse models; 1 with human PLOD1 associations

Human Disease Mouse Models
       Ehlers-Danlos Syndrome, Type VI; EDS6   OMIM: 225400 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
    11 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.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Targeted
    4
  • Genomic Mutations
    2 involving Plod1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010675 VEGA Gene Model | MGI Sequence Detail 27015 C57BL/6J ±  kb
transcript OTTMUST00000024908 VEGA | MGI Sequence Detail 3243 Not Applicable  
polypeptide OTTMUSP00000011428 VEGA | MGI Sequence Detail 728 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    355 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000012876 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
  • EC
  • InterPro Domains
    IPR029044 Nucleotide-diphospho-sugar transferases
    IPR005123 Oxoglutarate/iron-dependent dioxygenase
    IPR001006 Procollagen-lysine 5-dioxygenase
    IPR006620 Prolyl 4-hydroxylase, alpha subunit
Molecular
Reagents
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  • All nucleic 137
    cDNA 135
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-16704, MGI:1913722, MGI:2140400, MGI:2140511
References
more
  • Summaries
    All 45
    Developmental Gene Expression 9
    Diseases 1
    Gene Ontology 4
    Phenotypes 11
  • 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:214961 Milgrom-Hoffman M, et al., Endothelial cells regulate neural crest and second heart field morphogenesis. Biol Open. 2014;3(8):679-88

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory