InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PLOD1

Summary

InnateDB Gene

IDBG-89921.6

Last Modified

2014-10-13 [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-369316

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1

IDBP-369320

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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 1:11934205-11975538

Strand

Forward strand

Band

p36.22

Transcripts

ENST00000196061	ENSP00000196061
ENST00000358133
ENST00000449038	ENSP00000414443
ENST00000429000	ENSP00000405372
ENST00000485046
ENST00000465920
ENST00000491536
ENST00000470133
ENST00000481933

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.

Experimentally validated
Total	36 [view]
Protein-Protein	36 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0008475	procollagen-lysine 5-dioxygenase activity
GO:0016491	oxidoreductase activity
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:0005789	endoplasmic reticulum membrane
GO:0030867	rough endoplasmic reticulum membrane
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000019055

View Gene Order

ENSBTAG00000002052

Not yet available

Pathways

NETPATH

REACTOME

REACT_121139

Collagen biosynthesis and modifying enzymes pathway

REACT_118779

Extracellular matrix organization pathway

REACT_120729

Collagen formation pathway

KEGG

hsa00310

Lysine degradation pathway

INOH

PID NCI

Cross-References

SwissProt

Q02809

TrEMBL

A0A024R4H0 Q5JXB7 Q5JXB8 Q9UL44

UniProt Splice Variant

Entrez Gene

5351

UniGene

Hs.75093

RefSeq

NM_000302

HUGO

HGNC:9081

OMIM

153454

CCDS

CCDS142

HPRD

IMGT

EMBL

AF081786 AF490514 AF490515 AF490516 AF490517 AF490518 AF490519 AF490520 AF490521 AF490522 AF490523 AF490524 AF490525 AF490526 AF490527 AL096840 BC016657 CH471130 L06419

GenPept

AAA60116 AAD52693 AAH16657 AAM12752 CAC19722 EAW71724 EAW71725

RNA Seq Atlas

5351