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Sequence in raw or FASTA format:

Database:

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PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000302 Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

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Gene Symbol PLOD1
Entrez Gene ID 5351
Full Name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
Synonyms EDS6, LH, LH1, LLH, PLOD
General protein information
Preferred Names
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Names
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
lysine hydroxylase
lysyl hydroxlase 1
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
NP_000293.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1p36.22

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].
Disorder

MIM: 153454

Ehlers-Danlos syndrome, type VI, 225400 (3); Nevo syndrome, 601451

mRNA Protein Product Sequence Price Select
NM_000302, 324710986 NP_000293, 32307144 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 precursor ORF Sequence $700.00
KEGG
hsa00310Lysine degradation
Reactome
REACT_118779Extracellular matrix organization
REACT_120729Collagen formation
REACT_121139Collagen biosynthesis and modifying enzymes
Homo sapiens (human)PLOD1NP_000293.2
Pan troglodytes (chimpanzee)PLOD1XP_001142788.1
Canis lupus familiaris (dog)PLOD1XP_544565.2
Bos taurus (cattle)PLOD1NP_776573.1
Mus musculus (house mouse)Plod1NP_035252.1
Rattus norvegicus (Norway rat)Plod1NP_446279.2
Gallus gallus (chicken)PLOD1NP_001005618.1
Danio rerio (zebrafish)plod1aNP_001071210.2
Xenopus (Silurana) tropicalis (western clawed frog)plod1NP_001072340.1
Process
IDNameEvidence
GO:0001666response to hypoxiaIEP
GO:0006464cellular protein modification processNAS
GO:0008544epidermis developmentIMP
GO:0008544epidermis developmentTAS
GO:0030198extracellular matrix organizationTAS
GO:0046947hydroxylysine biosynthetic processTAS
GO:0055114oxidation-reduction processTAS
Component
IDNameEvidence
GO:0005789endoplasmic reticulum membraneTAS
GO:0030867rough endoplasmic reticulum membraneIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005506iron ion bindingIEA
GO:0008475procollagen-lysine 5-dioxygenase activityIEA
GO:0031418L-ascorbic acid bindingIEA
GO:0042803protein homodimerization activityTAS
GeneCards PLOD1
UniProt Q02809
Vega OTTHUMG00000002393
MIM 153454
Ensembl ENSG00000083444
HGNC 9081
HPRD 01086

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PLOD1 gene?

The PLOD1 gene provides instructions for making an enzyme called lysyl hydroxylase 1. This enzyme modifies a particular amino acid called lysine, which is one of the building blocks used to make proteins. Specifically, lysyl hydroxylase 1 adds a single oxygen atom to a hydrogen atom to create a charged molecule called a hydroxyl group. Hydroxyl groups attach to some of the lysines in collagen-like proteins. Collagens are complex molecules that provide strength, support, and elasticity (the ability to stretch) to many body tissues.

The addition of hydroxyl groups is essential for collagen molecules to form stable interactions, called cross-links, with one another. Cross-links between these molecules allow collagen to form networks of strong, slender fibrils, which are an important part of the normal structure of connective tissue (the tissue that binds and supports the body's muscles, ligaments, organs, and skin).

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