2. Gene
  3. P3H3 - prolyl 3-hydroxylase 3 Gene

P3H3 - prolyl 3-hydroxylase 3 Gene

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

中文名称：脯氨酰 3-羟化酶 3

种属: Homo sapiens

同用名: GRCB; LEPREL2; HSU47926

基因 ID: 10536 | 基因类型: protein coding

关于 P3H3

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,828,407-6,839,847 (from NCBI)

This gene has 11 transcripts (splice variants), 197 orthologues and 2 paralogues. Ubiquitous expression in endometrium (RPKM 14.9), ovary (RPKM 11.4) and 23 other tissues.

功能概要

由该基因编码的蛋白质属于蛋白聚糖的 leprecan 家族，其功能是胶原蛋白脯氨酰羟化酶，是胶原蛋白正常生物合成、折叠和组装所必需的。与其他家族成员一样，这种蛋白质被认为存在于内质网中。该基因的表观遗传失活与乳腺癌和其他癌症有关，表明它可能起到肿瘤抑制因子的作用。[RefSeq 提供，2013 年 8 月]

The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like Other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and Other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]

P3H3 基因产物(1)

mRNA Protein Name
NM_014262.5 NP_055077.2 prolyl 3-hydroxylase 3 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
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
19436308 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

P3H3 蛋白结构

2OG-FeII_Oxy_3

2OG-FeII_Oxy_3: 2OG-Fe(II) oxygenase superfamily (396 - 488)

  • 0
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  • 200
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  • 500
  • 551 a.a.
蛋白主名 其他名称

prolyl 3-hydroxylase 3

gene rich cluster, B

关联疾病

疾病名称 别名
Epilepsy, Idiopathic Generalized 7

Epilepsy, Idiopathic Generalized, Susceptibility To, 7

EIG7

Idiopathic Generalized Epilepsy 7

Epilepsy, Juvenile Myoclonic
Amyotrophic Lateral Sclerosis 8

Amyotrophic Lateral Sclerosis Type 8

ALS8

Sclerosis, Lateral, Amyotrophic, Type Type 8
Febrile Seizures, Familial, 1

FEB1

Convulsions, Familial Febrile, 1

Familial Febrile Seizures 1

Familial Febrile Convulsions 1
Amyotrophic Lateral Sclerosis Type 6

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

Als6

Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

Autosomal Recessive Amyotrophic Lateral Sclerosis 6

Sclerosis, Lateral, Amyotrophic, Type Type 6

Amyotrophic Lateral Sclerosis 6
Inflammatory Bowel Disease 14

IBD14

Inflammatory Bowel Disease 14, Susceptibility To

Bowel Disease, Inflammatory, Type 14
Amyloidosis, Primary Localized Cutaneous, 3

Amyloidosis Cutis Dyschromica

PLCA3

Acd

Primary Localized Cutaneous Amyloidosis 3

Amyloidosis Cutis Dyschromia
Amyotrophic Lateral Sclerosis 11

Amyotrophic Lateral Sclerosis Type 11

ALS11

Sclerosis, Lateral, Amyotrophic, Type Type 11
Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 10

ALS10

Amyotrophic Lateral Sclerosis 10, With Or Without Ftd

Frontotemporal Lobar Degeneration, Tardbp-Related

Amyotrophic Lateral Sclerosis 10

Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia

Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions

Sclerosis, Lateral, Amyotrophic, Type Type 10
Amyotrophic Lateral Sclerosis 4, Juvenile

Amyotrophic Lateral Sclerosis Type 4

ALS4

Amyotrophic Lateral Sclerosis 4

Dhmn With Upper Motor Neuron Signs

Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs

Neuronopathy, Distal Hereditary Motor, With Pyramidal Features

Als 4

Distal Hereditary Motor Neuropathy With Pyramidal Features

Amyotrophic Lateral Sclerosis Juvenile 4

Neuronopathy Distal Hereditary Motor With Pyramidal Features

Sclerosis, Lateral, Amyotrophic, Type Type 4
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09940 P3H3 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS16283 FAM-labeled P3H3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus P3H3 RGD RGD:1305699
Macaca mulatta P3H3 VGNC VGNC:75650
Canis familiaris P3H3 VGNC VGNC:44221
Mus musculus P3H3 MGD MGI:1315208
Bos taurus P3H3 VGNC VGNC:32534
Felis catus P3H3 VGNC VGNC:64015
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