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

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, Dec 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 37.9), placenta adult (RPKM 37.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SIRT6 deficiency causes ovarian hypoplasia by affecting Plod1-related collagen formation.
Title: SIRT6 deficiency causes ovarian hypoplasia by affecting Plod1-related collagen formation.
Lysyl hydroxylase LH1 promotes confined migration and metastasis of cancer cells by stabilizing Septin2 to enhance actin network.
Title: Lysyl hydroxylase LH1 promotes confined migration and metastasis of cancer cells by stabilizing Septin2 to enhance actin network.
Lysyl hydroxylase 1 (LH1) deficiency promotes angiotensin II (Ang II)-induced dissecting abdominal aortic aneurysm.
Title: Lysyl hydroxylase 1 (LH1) deficiency promotes angiotensin II (Ang II)-induced dissecting abdominal aortic aneurysm.
Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
Title: Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
Plod1(-/-) mice offer an in vivo model for systematic analysis of the tissue-specific consequences of the lack of LH1 activity
Title: Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_65451-65452:1185306539:1 (e-PCR)
- UniSTS:508218

Plod1 (e-PCR), detects polymorphism
- UniSTS:259244

AI854890 (e-PCR)
- UniSTS:165367

AV007929 (e-PCR)
- UniSTS:165370

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 more info	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

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Preferred Names: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

NP_035252.1

EC 1.14.11.4

NCBI Reference Sequences (RefSeq)

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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.