O00469 · PLOD2_HUMAN
- ProteinProcollagen-lysine,2-oxoglutarate 5-dioxygenase 2
- GenePLOD2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids737 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.
Catalytic activity
- 2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate
Cofactor
Protein has several cofactor binding sites:
Features
Showing features for binding site, active site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | endoplasmic reticulum | |
Cellular Component | endoplasmic reticulum membrane | |
Cellular Component | extracellular exosome | |
Cellular Component | rough endoplasmic reticulum membrane | |
Molecular Function | iron ion binding | |
Molecular Function | L-ascorbic acid binding | |
Molecular Function | procollagen-lysine 5-dioxygenase activity | |
Biological Process | hydroxylysine biosynthetic process | |
Biological Process | peptidyl-lysine hydroxylation | |
Biological Process | protein modification process | |
Biological Process | response to hypoxia |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameProcollagen-lysine,2-oxoglutarate 5-dioxygenase 2
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO00469
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Rough endoplasmic reticulum membrane ; Peripheral membrane protein
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Bruck syndrome 2 (BRKS2)
- Note
- DescriptionAn autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations.
- See alsoMIM:609220
Natural variants in BRKS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_022164 | 598 | R>H | in BRKS2; dbSNP:rs121434461 | |
VAR_069531 | 601 | G>C | in BRKS2; phenotype characterized by mild to severe osteogenesis imperfecta with or without postnatal contractures; dbSNP:rs762788421 | |
VAR_022165 | 601 | G>V | in BRKS2; dbSNP:rs121434460 | |
VAR_022166 | 608 | T>I | in BRKS2; dbSNP:rs121434459 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_083432 | 473 | found in a patient with congenital hydrocephalus; uncertain significance; dbSNP:rs533478450 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_022164 | 598 | in BRKS2; dbSNP:rs121434461 | |||
Sequence: R → H | ||||||
Natural variant | VAR_069531 | 601 | in BRKS2; phenotype characterized by mild to severe osteogenesis imperfecta with or without postnatal contractures; dbSNP:rs762788421 | |||
Sequence: G → C | ||||||
Natural variant | VAR_022165 | 601 | in BRKS2; dbSNP:rs121434460 | |||
Sequence: G → V | ||||||
Natural variant | VAR_022166 | 608 | in BRKS2; dbSNP:rs121434459 | |||
Sequence: T → I | ||||||
Natural variant | VAR_083433 | 643 | found in a patient with congenital hydrocephalus; uncertain significance; dbSNP:rs763670371 | |||
Sequence: T → M |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 973 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Signal | 1-25 | UniProt | |||||
Sequence: MGGCTVKPQLLLLALVLHPWNPCLG | |||||||
Chain | PRO_0000024683 | 26-737 | UniProt | Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | |||
Sequence: ADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARAKNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERNYFVRDKLDPDMALCRNAREMGVFMYISNRHEFGRLLSTANYNTSHYNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP | |||||||
Glycosylation | 63 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 209 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 297 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Modified residue | 320 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 323 | UniProt | Phosphotyrosine | ||||
Sequence: Y | |||||||
Glycosylation | 365 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 522 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Modified residue (large scale data) | 600 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Glycosylation | 696 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Modified residue | 704 | UniProt | N6-succinyllysine | ||||
Sequence: K | |||||||
Glycosylation | 725 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Keywords
- PTM
Proteomic databases
PTM databases
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 644-737 | Fe2OG dioxygenase | ||||
Sequence: KGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 3 isoforms produced by Alternative splicing.
O00469-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsA
- Length737
- Mass (Da)84,686
- Last updated2005-04-26 v2
- ChecksumC9AEA79A574D6B66
O00469-2
- Name2
- SynonymsB
- Differences from canonical
- 500-500: M → MTLQREKDSPTPETFQMLSPPK
O00469-3
- Name3
Computationally mapped potential isoform sequences
There are 8 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
E7ETU9 | E7ETU9_HUMAN | PLOD2 | 703 | ||
F8WEW3 | F8WEW3_HUMAN | PLOD2 | 98 | ||
C9JXZ0 | C9JXZ0_HUMAN | PLOD2 | 709 | ||
A0A9L9PXC2 | A0A9L9PXC2_HUMAN | PLOD2 | 699 | ||
A0A9L9PX47 | A0A9L9PX47_HUMAN | PLOD2 | 702 | ||
A0A994J6S5 | A0A994J6S5_HUMAN | PLOD2 | 552 | ||
A0A994J6E6 | A0A994J6E6_HUMAN | PLOD2 | 485 | ||
A0A994J3M7 | A0A994J3M7_HUMAN | PLOD2 | 280 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_057221 | 1-36 | in isoform 3 | |||
Sequence: MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPT → MLENHILHKRIYILTFFSQQIFILCHAHFIFFFTVR | ||||||
Alternative sequence | VSP_057222 | 37-376 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_013467 | 500 | in isoform 2 and isoform 3 | |||
Sequence: M → MTLQREKDSPTPETFQMLSPPK | ||||||
Sequence conflict | 624 | in Ref. 1; AAB58363 | ||||
Sequence: H → D |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U84573 EMBL· GenBank· DDBJ | AAB58363.1 EMBL· GenBank· DDBJ | mRNA | ||
AK125700 EMBL· GenBank· DDBJ | BAG54235.1 EMBL· GenBank· DDBJ | mRNA | ||
AB209879 EMBL· GenBank· DDBJ | BAD93116.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AC092982 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC107021 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC037169 EMBL· GenBank· DDBJ | AAH37169.1 EMBL· GenBank· DDBJ | mRNA |