PLOD1 - procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Gene

Homo sapiens

Also known as LH; LH1; LLH; EDS6; PLOD; EDSKCL1

Gene ID: 5351 | Gene type: protein coding

About PLOD1

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:11,934,717-11,975,537 (from NCBI)

This gene has 9 transcripts (splice variants), 199 orthologues, 5 paralogues and is associated with 4 phenotypes. Ubiquitous expression in placenta (RPKM 47.0), endometrium (RPKM 37.3) and 25 other tissues.

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

PLOD1 Products(2)

mRNA	Protein	Name
NM_000302.4	NP_000293.2	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform 2 precursor
NM_001316320.2	NP_001303249.1	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables procollagen glucosyltransferase activity	IDA IDA: Inferred from direct assay	10934207	GOA
enables procollagen-lysine 5-dioxygenase activity	IDA IDA: Inferred from direct assay	9724729	GOA
enables procollagen-lysine 5-dioxygenase activity	IMP IMP: Inferred from mutant phenotype	8621606	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26496610	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in epidermis development	IMP IMP: Inferred from mutant phenotype	8449506	GOA
involved in peptidyl-lysine hydroxylation	IDA IDA: Inferred from direct assay	8621606	GOA
NOT involved in protein O-linked glycosylation	IDA IDA: Inferred from direct assay	10934207	GOA
involved in response to hypoxia	IEP IEP: Inferred from expression pattern	15174142	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLOD1 Protein Structure

2OG-FeII_Oxy

0
200
400
600
727 a.a.

Protein Preferred Names

Protein Names

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

lysine hydroxylase

Related Diseases

Diseases

Alias

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Nevo Syndrome	Eds Vi
Ehlers-Danlos Syndrome, Type Vi	Eds Via
Ehlers-Danlos Syndrome Type 6	EDSKSCL1
Eds6	Ehlers-Danlos Syndrome Kyphoscoliotic Type 1
Kyphoscoliotic Ehlers-Danlos Syndrome	Cutis Hyperelastica
Ehlers-Danlos Syndrome Type 6a	Ehlers-Danlos Syndrome Oculoscoliotic Type
Kyphoscoliotic Eds	Kyphoscoliotic Eds Due To Lysyl Hydroxylase 1 Deficiency
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Lysyl Hydroxylase-Deficient Eds
Ocular-Scoliotic Eds	Keds
Keds-Plod1	Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type	Ehlers-Danlos Syndrome, Type Via, Formerly
Eds6a, Formerly	Eds 6
Eds, Kyphoscoliotic Type	Eds, Oculoscoliotic Type
Ehlers-Danlos Syndrome, Kyphoscoliosis Type	Ehlers-Danlos Syndrome, Kyphoscoliotic Type
Ehlers-Danlos Syndrome, Oculoscoliotic Type	Eds6a
Ehlers-Danlos Syndrome 6	Ehlers-Danlos Syndrome Kyphoscoliotic Type

Umbilical Hernia

Hernia, Umbilical

Omphalocele

Omphalocoele	Congenital Omphalocele
Exomphalos	Exumbilication

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Orthostatic Intolerance

Mitral Valve Prolapse	Neurocirculatory Asthenia
Mitral Valve Prolapse Syndrome	Irritable Heart
Systolic Click-Murmur Syndrome	Soldiers Heart
Cardiovascular Malfunction Arising From Mental Factors	Cardiovascular Neurosis
Da Costa'S Syndrome	Krishaber'S Disease
Barlow'S Syndrome	Floppy Mitral Valve
Mitral Leaflet Syndrome	Myxomatous Mitral Valve Prolapse
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency	Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
Orthostatic Intolerance Due To Net Deficiency	Pots Due To Net Deficiency
OI	Intolerance, Orthostatic
Mitral Valve Prolapse, Familial, X-Linked	Ballooning Mitral Valve
Barlow Syndrome	Flail Mitral Leaflet
Myxomatous Mitral Valve	Mitral Valve Prolapse-Click Syndrome
Prolapsing Mitral Valve Leaflet Syndrome	Billowing Mitral Valve Leaflet
Posterior Mitral Leaflet Deformity	Ballooning Posterior Leaflet Syndrome
Blue Valve Syndrome	Floppy Mitral Valve Syndrome
Mitral Valvular Prolapse	Systolic Click Syndrome

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive	Hydrocephalus, X-Linked
Hydrocephalus Adverse Event	Hydrocephaly Nos

Thrombophilia Due To Thrombin Defect

Venous Thromboembolism	Venous Thrombosis
Thrombophilia Due To Factor 2 Defect	Thromboembolism
THPH1	Thromboembolism, Susceptibility To
Venous Thromboembolism, Susceptibility To	Venous Thrombosis, Protection Against
Prothrombin-Related Thrombophilia	Hyperprothrombinemia
Venous Thrombosis, Susceptibility To	Thrombophilia 1 Due To Thrombin Defect
F2-Related Thrombophilia	Factor Ii-Related Thrombophilia
Prothrombin 20210g>A Thrombophilia	Prothrombin G20210a Thrombophilia
Prothrombin Thrombophilia

Hypermobile Ehlers-Danlos Syndrome

Heds	Ehlers-Danlos Syndrome Type 3
Ehlers-Danlos Syndrome Hypermobility Type	Hypermobile Eds
Joint Hypermobility	Benign Joint Hypermobility Syndrome
Eds Hypermobility Type	Eds Type Iii
Ehlers-Danlos Syndrome Type Iii	Joint Hypermobility Syndrome
Eds3	Ehlers-Danlos Syndrome, Hypermobility Type
Eds Iii	Eds-Ht

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss	EDSKSCL2
Edskmh	Ehlers-Danlos Syndrome Kyphoscoliotic Type 2
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Ehlers-Danlos Syndrome With Kyphoscoliosis, Myopathy, And Deafness
Ehlers-Danlos Syndrome With Kyphoscoliosis, Myopathy, And Hearing Loss	Fkbp14-Related Eds
Fkbp22-Deficient Eds	Kyphoscoliotic Eds Due To Fkbp22 Deficiency
Keds-Fkbp14	Ehlers-Danlos Syndrome, With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss
Ehlers-Danlos Syndrome, Kyphoscoliotic, Type 2

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Collagen Disease

Collagen Diseases

Collagen Disorder

Tricuspid Valve Prolapse

Osteogenesis Imperfecta, Type Viii

Osteogenesis Imperfecta Type 8	OI8
Osteogenesis Imperfecta Type Viii	Oi Type Viii
Oi, Type Viii	Osteogenesis Imperfecta 8
Oi-Viii

Caspase 8 Deficiency

Autoimmune Lymphoproliferative Syndrome Type 2b	Caspase-8 Deficiency
Ceds	Alps2b
Autoimmune Lymphoproliferative Syndrome, Type Iib	Alps With Recurrent Viral Infections
Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections	Caspase 8 Deficiency Syndrome
Caspase 8 Lymphadenopathy Syndrome	Autoimmune Lymphoproliferative Syndrome Type Iib
Caspase Eight Deficiency State	CASP8D

Hypermobility Syndrome

Benign Joint Hypermobility

Scoliosis

Myasthenic Syndrome, Congenital, 8

Congenital Myasthenic Syndrome 8	CMS8
Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects	Cmsppd
Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects	Congenital Myasthenic Syndrome Due To Agrin Deficiency
Myasthenic Syndrome, Congenital, Due To Agrin Deficiency	Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects
Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Bladder Diverticulum

Diverticulum Of Bladder	Diverticulum - Bladder
Bladder Diverticula	Vesical Diverticulum
Bladder Sacculation

Ehlers-Danlos Syndrome, Classic Type, 1

Ehlers-Danlos Syndrome, Type I	EDSCL1
Ehlers-Danlos Syndrome Classic Type 1	Ehlers-Danlos Syndrome Type 1
Ehlers-Danlos Syndrome, Type I, Formerly	Eds1, Formerly
Ehlers-Danlos Syndrome, Severe Classic Type, Formerly	Eds I, Formerly
Ehlers-Danlos Syndrome, Gravis Type, Formerly	Ehlers-Danlos Syndrome, Type 1
Type I Ehlers-Danlos Syndrome	Eds1
Eds I	Ehlers-Danlos Syndrome, Gravis Type
Ehlers-Danlos Syndrome, Severe Classic Type	Ehlers-Danlos Syndrome 1
Ehlers-Danlos, Classic Syndrome, Type 1	Ehlers-Danlos Syndrome Type 2

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome	Lds
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies	Furlong Syndrome

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Bethlem Myopathy 1

Bethlem Myopathy	Myopathy, Benign Congenital, With Contractures
Muscular Dystrophy, Benign Congenital	BTHLM1
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5	Lgmdd5
Benign Congenital Muscular Dystrophy	Benign Autosomal Dominant Myopathy
Myopathy, Bethlem	Myopathy, Bethlem, Type 1

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm	Annuloaortic Ectasia
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Familial Aortic Dissection
Familial Taad	Familial Thoracic Aortic Aneurysm
Congenital Aneurysm Of Ascending Aorta	Familial Aortic Aneurysm
Familial Thoracic Aortic Aneurysm And Dissection	Aortic Aneurysm, Thoracic
AAT1	Faa1
Aortic Dissection, Familial	Aortic Aneurysm, Familial Thoracic
Aneurysm, Thoracic Aortic	Faa
Ftaad	Taa
Taad	Cystic Medial Necrosis Of Aorta
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection	Aortic Aneurysm Thoracic
Familial Aortic Aneurysms	Aneurysm, Aortic, Thoracic, Familial, Type 1
Aneurysm Of Thoracic Aorta	Intrathoracic Aneurysm
Thoracic Aorta Aneurysm	Thoracic Aortic Aneurysm Without Rupture
Thoracic Aneurysm	Thorax Arterial Aneurysm
Thoracic Artery Aneurysm	Thoracic Arterial Aneurysm
Thorax Aneurysm	Thorax Aortic Aneurysm
Dissection Of Thoracic Aorta

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10728	PLOD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLOD1	RGD	RGD:621382
Mus musculus	PLOD1	MGD	MGI:99907
Macaca mulatta	PLOD1	VGNC	VGNC:100039
Felis catus	PLOD1	VGNC	VGNC:68907
Canis familiaris	PLOD1	VGNC	VGNC:44701
Bos taurus	PLOD1	VGNC	VGNC:33039

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