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

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

中文名称:原胶原-赖氨酸,2-酮戊二酸 5-双加氧酶 1

种属: Homo sapiens

同用名: LH; LH1; LLH; EDS6; PLOD; EDSKCL1

基因 ID: 5351 | 基因类型: protein coding

关于 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.

功能概要

赖氨酰羟化酶是一种膜结合的同源二聚体蛋白,位于内质网的池中。该酶 (辅助因子铁和抗坏血酸) 催化胶原样肽中赖氨酰残基的羟基化。生成的羟赖氨酰基团是胶原蛋白中碳水化合物的附着位点,因此对于分子间交联的稳定性至关重要。一些 Ehlers-Danlos 综合征 VI 型患者存在赖氨酰羟化酶活性缺陷。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2015 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables procollagen glucosyltransferase activity IDA
IDA: 通过直接分析推断
10934207 GOA
enables procollagen-lysine 5-dioxygenase activity IDA
IDA: 通过直接分析推断
9724729 GOA
enables procollagen-lysine 5-dioxygenase activity IMP
IMP: 通过突变表型推断
8621606 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
26496610 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in epidermis development IMP
IMP: 通过突变表型推断
8449506 GOA
involved in peptidyl-lysine hydroxylation IDA
IDA: 通过直接分析推断
8621606 GOA
NOT involved in protein O-linked glycosylation IDA
IDA: 通过直接分析推断
10934207 GOA
involved in response to hypoxia IEP
IEP: 通过表达模式推断
15174142 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PLOD1 蛋白结构

2OG-FeII_Oxy

2OG-FeII_Oxy: 2OG-Fe(II) oxygenase superfamily (639 - 727)

  • 0
  • 200
  • 400
  • 600
  • 727 a.a.
蛋白主名 其他名称

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

lysine hydroxylase

PLOD1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PLOD1 Q02809 HNRNPH2 Homo sapiens P55795
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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