PLOD1

Protein identityUniProt · HPA

UniProt accession

Q02809

Gene

PLOD1

Ensembl

ENSG00000083444

Chromosome

1

Canonical length

727 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Vesicles

Secretome location

Intracellular and membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Canonical amino-acid sequenceUniProt

727 residues, UniProt reviewed canonical sequence.

>Q02809|PLOD1
     1  MRPLLLLALL GWLLLAEAKG DAKPEDNLLV LTVATKETEG FRRFKRSAQF FNYKIQALGL
    61  GEDWNVEKGT SAGGGQKVRL LKKALEKHAD KEDLVILFAD SYDVLFASGP RELLKKFRQA
   121  RSQVVFSAEE LIYPDRRLET KYPVVSDGKR FLGSGGFIGY APNLSKLVAE WEGQDSDSDQ
   181  LFYTKIFLDP EKREQINITL DHRCRIFQNL DGALDEVVLK FEMGHVRARN LAYDTLPVLI
   241  HGNGPTKLQL NYLGNYIPRF WTFETGCTVC DEGLRSLKGI GDEALPTVLV GVFIEQPTPF
   301  VSLFFQRLLR LHYPQKHMRL FIHNHEQHHK AQVEEFLAQH GSEYQSVKLV GPEVRMANAD
   361  ARNMGADLCR QDRSCTYYFS VDADVALTEP NSLRLLIQQN KNVIAPLMTR HGRLWSNFWG
   421  ALSADGYYAR SEDYVDIVQG RRVGVWNVPY ISNIYLIKGS ALRGELQSSD LFHHSKLDPD
   481  MAFCANIRQQ DVFMFLTNRH TLGHLLSLDS YRTTHLHNDL WEVFSNPEDW KEKYIHQNYT
   541  KALAGKLVET PCPDVYWFPI FTEVACDELV EEMEHFGQWS LGNNKDNRIQ GGYENVPTID
   601  IHMNQIGFER EWHKFLLEYI APMTEKLYPG YYTRAQFDLA FVVRYKPDEQ PSLMPHHDAS
   661  TFTINIALNR VGVDYEGGGC RFLRYNCSIR APRKGWTLMH PGRLTHYHEG LPTTRGTRYI
   721  AVSFVDP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLOD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

79 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLOD1.

Disease | AllUniProt

Conditions PLOD1 is implicated in, by any mechanism.

• Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) MIM:225400

Disease | GeneticClinVar

114 pathogenic / likely-pathogenic of 1,419 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ehlers-Danlos syndrome, kyphoscoliotic type 1
• Familial thoracic aortic aneurysm and aortic dissection
• Ehlers-Danlos syndrome
• PLOD1-related disorder
• 6 conditions

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.94

gnomAD pLI

0

gnomAD missense Z

0.39

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• collagen biosynthetic process
• collagen fibril organization
• epidermis development
• hydroxylysine biosynthetic process
• response to hypoxia

Molecular functions

• iron ion binding
• L-ascorbic acid binding
• procollagen-lysine 5-dioxygenase activity

Cellular components

• catalytic complex
• endoplasmic reticulum
• endoplasmic reticulum membrane
• extracellular exosome
• extracellular space
• Golgi apparatus
• rough endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Procollagen-lysine 5-dioxygenase, conserved site
• Oxoglutarate/iron-dependent dioxygenase domain
• Prolyl 4-hydroxylase, alpha subunit
• Nucleotide-diphospho-sugar transferases
• Isopenicillin N synthase-like, Fe(2+) 2OG dioxygenase domain
• Collagen-modifying Glycosyltransferase 25
• PLOD1-3-like, GT domain
• 2OG-Fe(II) oxygenase superfamily
• OGFOD2-like domain
• PLOD GT domain

KeywordsUniProt

• Dioxygenase
• Ehlers-Danlos syndrome
• Endoplasmic reticulum
• Glycoprotein
• Iron
• Membrane
• Metal-binding
• Oxidoreductase
• Signal
• Vitamin C

InteractionsUniProt · HPA

Protein binding partners of PLOD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• P3H4
• HNRNPH1
• HNRNPH2