Homo sapiens Gene: PLOD1

Summary
InnateDB Gene IDBG-89921.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol PLOD1
Gene Name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
Synonyms EDS6; LH; LH1; LLH; PLOD
Species Homo sapiens
Ensembl Gene ENSG00000083444
Encoded Proteins
IDBP-89923 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
IDBP-89927 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
IDBP-89929 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
IDBP-369316 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
IDBP-369320 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
Entrez Gene
Summary Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1: 11994262-12035599
Strand Forward strand
Band p36.22
Transcripts
ENST00000196061  ENSP00000196061
ENST00000376369  ENSP00000365548
ENST00000358133  ENSP00000350851
ENST00000449038  ENSP00000414443
ENST00000429000  ENSP00000405372
ENST00000485046 
ENST00000465920 
ENST00000491536 
ENST00000470133 
ENST00000496354 
ENST00000481933 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
Experimentally validated
Total 31 [view]
Protein‑Protein  31
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0005506 iron ion binding
GO:0008475 procollagen-lysine 5-dioxygenase activity
GO:0016491 oxidoreductase activity
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0031418 L-ascorbic acid binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0001666 response to hypoxia
GO:0006464 cellular protein modification process
GO:0008544 epidermis development
GO:0030198 extracellular matrix organization
GO:0046947 hydroxylysine biosynthetic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005581 collagen
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0030867 rough endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000019055 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000002052 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
hsa00310  Lysine degradation
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q02809 
TrEMBL B4DR87 Q5JXB7 Q5JXB8 Q5JXB9 Q9UL44
UniProt Splice Variant
Entrez Gene 5351 
UniGene Hs.75093
RefSeq NM_000302 
HUGO 9081 
OMIM 153454
CCDS CCDS142 
HPRD 01086
IMGT
EMBL AF081786 AF490514 AF490515 AF490516 AF490517 AF490518 AF490519 AF490520 AF490521 AF490522 AF490523 AF490524 AF490525 AF490526 AF490527 AK299150 AK316285 AL096840 BC016657 L06419
GenPept AAA60116  AAD52693  AAH16657  AAM12752  BAG61199  BAH14656  CAC19722  CAI19083  CAI19084  CAI19085 
ImmGen PLOD1 (murine) 
RNA Seq Atlas 5351