2. Gene
  3. PLOD3 - procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 Gene

PLOD3 - procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：原胶原-赖氨酸，2-酮戊二酸 5-双加氧酶 3

种属: Homo sapiens

同用名: LH3

基因 ID: 8985 | 基因类型: protein coding

关于 PLOD3

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:101,205,984-101,217,581 (from NCBI)

This gene has 16 transcripts (splice variants), 184 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 21.7), endometrium (RPKM 12.9) and 25 other tissues.

功能概要

由该基因编码的蛋白质是一种膜结合的同型二聚体酶，位于粗面内质网的池中。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。一些患有 Ehlers-Danlos 综合征类型 VIB 的患者存在赖氨酰羟化酶活性缺陷。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a membrane-bound homodimeric Enzyme that is localized to the cisternae of the rough 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 VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]

PLOD3 基因产物(1)

mRNA Protein Name
NM_001084.5 NP_001075.1 multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables iron ion binding EXP
EXP: 通过实验结果推断
30089812 GOA
enables metal ion binding EXP
EXP: 通过实验结果推断
30089812 GOA
enables procollagen galactosyltransferase activity IMP
IMP: 通过突变表型推断
18298658 GOA
enables procollagen glucosyltransferase activity IMP
IMP: 通过突变表型推断
10934207 GOA
enables procollagen-lysine 5-dioxygenase activity IDA
IDA: 通过直接分析推断
9582318 GOA
enables procollagen-lysine 5-dioxygenase activity IMP
IMP: 通过突变表型推断
10934207 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables small molecule binding EXP
EXP: 通过实验结果推断
30089812 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in peptidyl-lysine hydroxylation IDA
IDA: 通过直接分析推断
9582318 GOA
involved in peptidyl-lysine hydroxylation IMP
IMP: 通过突变表型推断
10934207 GOA
involved in protein O-linked glycosylation IMP
IMP: 通过突变表型推断
10934207 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
10934207 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
10934207 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

PLOD3 蛋白结构

2OG-FeII_Oxy

2OG-FeII_Oxy: 2OG-Fe(II) oxygenase superfamily (652 - 738)

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

multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3

lysine hydroxylase 3

PLOD3 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
PLOD3 O60568 EHMT2 Homo sapiens A2ABF9
Y2H Prey Pooling
25416956
种属内
PLOD3 O60568 EHMT2 Homo sapiens A2ABF9
Y2H Array
25416956
种属内
PLOD3 O60568 L3MBTL3 Homo sapiens Q96JM7-2
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 L3MBTL3 Homo sapiens Q96JM7-2
Validated Y2H
32296183
种属内
PLOD3 O60568 L3MBTL3 Homo sapiens Q96JM7-2
Y2H Array
32296183
种属内
PLOD3 O60568 CRIP3 Homo sapiens Q6Q6R5-3
Y2H Array
32296183
种属内
PLOD3 O60568 CRIP3 Homo sapiens Q6Q6R5-3
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 CRIP3 Homo sapiens Q6Q6R5-3
Validated Y2H
32296183
种属内
PLOD3 O60568 EFHC2 Homo sapiens Q5JST6
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 EFHC2 Homo sapiens Q5JST6
Validated Y2H
25910212
种属内
PLOD3 O60568 EFHC2 Homo sapiens Q5JST6
Y2H Array
31515488
种属内
PLOD3 O60568 EFHC2 Homo sapiens Q5JST6
Y2H Bait-Prey Pool
25910212
种属内
PLOD3 O60568 EFHC2 Homo sapiens Q5JST6
Y2H Array
25910212
种属内
PLOD3 O60568 EFHC2 Homo sapiens Q5JST6
Validated Y2H
25416956
种属内
PLOD3 O60568 EFHC2 Homo sapiens Q5JST6
Validated Y2H
32296183
种属内
PLOD3 O60568 EFHC2 Homo sapiens Q5JST6
Y2H Array
32296183
种属内
PLOD3 O60568 EFHC2 Homo sapiens Q5JST6
Y2H Prey Pooling
25416956
种属内
PLOD3 O60568 COL17A1 Homo sapiens Q9UMD9
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 COL17A1 Homo sapiens Q9UMD9
Validated Y2H
32296183
种属内
PLOD3 O60568 COL17A1 Homo sapiens Q9UMD9
Y2H Array
32296183
种属内
PLOD3 O60568 RHOXF2 Homo sapiens Q9BQY4
Pull Down
16189514
种属内
PLOD3 O60568 RHOXF2 Homo sapiens Q9BQY4
Y2H Pooling
16189514
种属内
PLOD3 O60568 ZNF620 Homo sapiens Q6ZNG0
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 ZNF620 Homo sapiens Q6ZNG0
Y2H Array
32296183
种属内
PLOD3 O60568 ZNF620 Homo sapiens Q6ZNG0
Validated Y2H
32296183
种属内
PLOD3 O60568 KCTD9 Homo sapiens Q7L273
Y2H Array
32296183
种属内
PLOD3 O60568 KCTD9 Homo sapiens Q7L273
Validated Y2H
32296183
种属内
PLOD3 O60568 KCTD9 Homo sapiens Q7L273
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 KHNYN Homo sapiens O15037
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 KHNYN Homo sapiens O15037
Y2H Array
32296183
种属内
PLOD3 O60568 SORBS3 Homo sapiens O60504
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 SORBS3 Homo sapiens O60504
Y2H Array
32296183
种属内
PLOD3 O60568 EHMT2 Homo sapiens Q96KQ7
Validated Y2H
25910212
种属内
PLOD3 O60568 EHMT2 Homo sapiens Q96KQ7
Y2H Array
25910212
种属内
PLOD3 O60568 EHMT2 Homo sapiens Q96KQ7
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 EHMT2 Homo sapiens Q96KQ7
Validated Y2H
32296183
种属内
PLOD3 O60568 EHMT2 Homo sapiens Q96KQ7
Y2H Bait-Prey Pool
25910212
种属内
PLOD3 O60568 EHMT2 Homo sapiens Q96KQ7
Y2H Array
32296183
种属内
PLOD3 O60568 EHMT2 Homo sapiens Q96KQ7
Y2H Pooling
16189514
种属内
PLOD3 O60568 IP6K2 Homo sapiens Q9UHH9
Validated Y2H
32296183
种属内
PLOD3 O60568 IP6K2 Homo sapiens Q9UHH9
Y2H Array
32296183
种属内
PLOD3 O60568 IP6K2 Homo sapiens Q9UHH9
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 RAB3IP Homo sapiens Q96QF0
Y2H Prey Pooling
25416956
种属内
PLOD3 O60568 RAB3IP Homo sapiens Q96QF0-2
Validated Y2H
25910212
种属内
PLOD3 O60568 RAB3IP Homo sapiens Q96QF0-2
Y2H Bait-Prey Pool
25910212
种属内
PLOD3 O60568 RAB3IP Homo sapiens Q96QF0-2
Y2H Array
25910212
种属内
PLOD3 O60568 NAB2 Homo sapiens Q15742
Validated Y2H
32296183
种属内
PLOD3 O60568 NAB2 Homo sapiens Q15742
Y2H Array
32296183
种属内
PLOD3 O60568 NAB2 Homo sapiens Q15742
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 COIL Homo sapiens P38432
Validated Y2H
32296183
种属内
PLOD3 O60568 COIL Homo sapiens P38432
Y2H Array
32296183
种属内
PLOD3 O60568 COIL Homo sapiens P38432
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 RALY Homo sapiens Q53GL6
Y2H Prey Pooling
32296183
种属内
PLOD3 O60568 RALY Homo sapiens Q53GL6
Validated Y2H
32296183
种属内
PLOD3 O60568 RALY Homo sapiens Q53GL6
Y2H Array
32296183
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
Bone Fragility With Contractures, Arterial Rupture, And Deafness

Lysyl Hydroxylase 3 Deficiency

LH3 DEFICIENCY

BCARD

Connective Tissue Disorder Due To Lysyl Hydroxylase-3 Deficiency

Bone Fragility-Contractures-Arterial Rupture-Deafness Syndrome

Bone Fragility-Contractures-Arterial Rupture-Hearing Loss Syndrome

Connective Tissue Disorder Due To Lh3 Deficiency

Bone Fragility With Contractures Arterial Rupture And Deafness
Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]
Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Epidermolysis Bullosa

Acantholysis Bullosa

Eb
Glutathionuria

Gamma-Glutamyltransferase Deficiency

Ggt Deficiency

Gtg Deficiency

Gamma-Glutamyltranspeptidase Deficiency

Glutathioninuria

Gamma-Glutamyl Transpeptidase Deficiency

Gamma-Glutamyl Transferase Deficiency

Ggt1 Deficiency

GLUTH
Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [Epidermolysis Bullosa]
Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Rdeb, Hallopeau-Siemens Type

Severe Generalized Rdeb

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Rdeb Generalisata Gravis

Rdeb, Severe Generalized

Rdeb-Sev Gen

Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

Hallopeau-Siemens Disease
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10730 PLOD3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus PLOD3 VGNC VGNC:33041
Canis familiaris PLOD3 VGNC VGNC:44703
Felis catus PLOD3 VGNC VGNC:68909
Mus musculus PLOD3 MGD MGI:1347008
Macaca mulatta PLOD3 VGNC VGNC:76177
Rattus norvegicus PLOD3 RGD RGD:631339
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