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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5351

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	Références	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	Références	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

PLOD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	PLOD1	Q02809	HNRNPH2	Homo sapiens	P55795	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS10728	PLOD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21027	Plod1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27544	Plod1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PLOD1	NCBI