• Gene id: 5351

Gene Summary

• Gene Symbol: PLOD1   Gene   UCSC   Ensembl
• Aliases: EDS6, EDSKCL1, LH, LH1, LLH, PLOD
• Gene name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
• Alternate names: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1, lysine hydroxylase, lysyl hydroxlase 1, procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1,
• Gene location: 1p36.22 (11934666: 11975541)     Exons: 21     NC_000001.11
• Gene summary(Entrez): 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 hydroxylysy
• OMIM: 153454

Protein Summary

• Protein general information: Q02809  
  • Name: Procollagen lysine,2 oxoglutarate 5 dioxygenase 1 (EC 1.14.11.4) (Lysyl hydroxylase 1) (LH1)
  • Length: 727  
  • Mass: 83,550
  • Tissue specificity: Expressed strongly in oral keratinocytes, but only weakly detected in oral squamous cell carcinomas (at protein level). {ECO
• Sequence:

  MRPLLLLALLGWLLLAEAKGDAKPEDNLLVLTVATKETEGFRRFKRSAQFFNYKIQALGLGEDWNVEKGTSAGGG
  QKVRLLKKALEKHADKEDLVILFADSYDVLFASGPRELLKKFRQARSQVVFSAEELIYPDRRLETKYPVVSDGKR
  FLGSGGFIGYAPNLSKLVAEWEGQDSDSDQLFYTKIFLDPEKREQINITLDHRCRIFQNLDGALDEVVLKFEMGH
  VRARNLAYDTLPVLIHGNGPTKLQLNYLGNYIPRFWTFETGCTVCDEGLRSLKGIGDEALPTVLVGVFIEQPTPF
  VSLFFQRLLRLHYPQKHMRLFIHNHEQHHKAQVEEFLAQHGSEYQSVKLVGPEVRMANADARNMGADLCRQDRSC
  TYYFSVDADVALTEPNSLRLLIQQNKNVIAPLMTRHGRLWSNFWGALSADGYYARSEDYVDIVQGRRVGVWNVPY
  ISNIYLIKGSALRGELQSSDLFHHSKLDPDMAFCANIRQQDVFMFLTNRHTLGHLLSLDSYRTTHLHNDLWEVFS
  NPEDWKEKYIHQNYTKALAGKLVETPCPDVYWFPIFTEVACDELVEEMEHFGQWSLGNNKDNRIQGGYENVPTID
  IHMNQIGFEREWHKFLLEYIAPMTEKLYPGYYTRAQFDLAFVVRYKPDEQPSLMPHHDASTFTINIALNRVGVDY
  EGGGCRFLRYNCSIRAPRKGWTLMHPGRLTHYHEGLPTTRGTRYIAVSFVDP

• Structural information:
  • Protein Domains: Fe2OG (636-727)
  • Interpro: IPR029044  IPR005123  IPR006620  IPR001006  
  • Prosite: PS51471 PS01325
  • STRING: ENSP00000196061
• Other Databases: GeneCards:  PLOD1  Malacards:  PLOD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IEP	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006464	cellular protein modification process	NAS	biological process
GO:0008198	ferrous iron binding	IEA	molecular function
GO:0008475	procollagen-lysine 5-dioxygenase activity	TAS	molecular function
GO:0008544	epidermis development	TAS	biological process
GO:0008544	epidermis development	IMP	biological process
GO:0017185	peptidyl-lysine hydroxylation	IEA	biological process
GO:0030867	rough endoplasmic reticulum membrane	IEA	cellular component
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0032870	cellular response to hormone stimulus	IEA	biological process
GO:0042277	peptide binding	IEA	molecular function
GO:0042803	protein homodimerization activity	TAS	molecular function
GO:0046947	hydroxylysine biosynthetic process	TAS	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0001666	response to hypoxia	IEP	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006464	cellular protein modification process	NAS	biological process
GO:0008198	ferrous iron binding	IEA	molecular function
GO:0008475	procollagen-lysine 5-dioxygenase activity	IEA	molecular function
GO:0008475	procollagen-lysine 5-dioxygenase activity	IEA	molecular function
GO:0008475	procollagen-lysine 5-dioxygenase activity	IEA	molecular function
GO:0008475	procollagen-lysine 5-dioxygenase activity	TAS	molecular function
GO:0008544	epidermis development	TAS	biological process
GO:0008544	epidermis development	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0017185	peptidyl-lysine hydroxylation	IEA	biological process
GO:0030867	rough endoplasmic reticulum membrane	IEA	cellular component
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0032870	cellular response to hormone stimulus	IEA	biological process
GO:0042277	peptide binding	IEA	molecular function
GO:0042803	protein homodimerization activity	TAS	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046947	hydroxylysine biosynthetic process	TAS	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0001666	response to hypoxia	IEP	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006464	cellular protein modification process	NAS	biological process
GO:0008475	procollagen-lysine 5-dioxygenase activity	TAS	molecular function
GO:0008544	epidermis development	TAS	biological process
GO:0008544	epidermis development	IMP	biological process
GO:0042803	protein homodimerization activity	TAS	molecular function
GO:0046947	hydroxylysine biosynthetic process	TAS	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00010	Glycolysis / Gluconeogenesis

Diseases

Associated diseases	References
Polycystic ovary syndrome (PCOS)	MIK: 8298514
Azoospermia	MIK: 10407645
Oligozoospermia	MIK: 12931371
Cryptorchidism	MIK: 28606200
Hypogonadism	MIK: 18404998
Male sexual maturation and fertility	MIK: 18404998
Male infertility	MIK: 11379442
Male pseudohermaphroditism	MIK: 127543
Maturation arrest at the spermatid stage	MIK: 8647538
Oligoasthenoteratozoospermia (OAT) syndrome	MIK: 23933342
Partial androgen insensitivity syndrome (PAIS)	MIK: 22412043
Sertoli cell only syndrome (cSCOS)	MIK: 23013062
Hypospermatogenesis	MIK: 23013062
Mixed atrophy or severe atrophy	MIK: 23013062
Sperm cell concentration	MIK: 3079622
Sperm motility	MIK: 3079622
Varicocele	MIK: 12653784

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes