2. Gene
  3. PMVK - phosphomevalonate kinase Gene

PMVK - phosphomevalonate kinase Gene

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

中文名称：磷酸甲羟戊酸激酶

种属: Homo sapiens

同用名: PMK; PMKA; PMKASE; POROK1; HUMPMKI

基因 ID: 10654 | 基因类型: protein coding

关于 PMVK

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,924,740-154,942,658 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 26.9), liver (RPKM 17.8) and 25 other tissues.

功能概要

该基因编码一种过氧化物酶体酶，该酶属于 ATP 依赖性酶的半乳糖激酶、高丝氨酸激酶、甲羟戊酸激酶和磷酸甲羟戊酸激酶 (GHMP) 家族。编码的蛋白质催化甲羟戊酸 5-磷酸转化为甲羟戊酸 5-二磷酸，这是类异戊二烯生物合成甲羟戊酸途径的第五步。该基因的突变与某些类型的汗孔角化症有关，包括播散性浅表性汗孔角化症。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 2 月]

This gene encodes a peroxisomal Enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent Enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

PMVK 基因产物(4)

mRNA Protein Name
NM_001323011.3 NP_001309940.1 phosphomevalonate kinase isoform 2
NM_001323012.3 NP_001309941.1 phosphomevalonate kinase isoform 3
NM_001348696.2 NP_001335625.1 phosphomevalonate kinase isoform 4
NM_006556.4 NP_006547.1 phosphomevalonate kinase isoform 1
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 ATP binding IDA
IDA: 通过直接分析推断
16519518 GOA
enables phosphomevalonate kinase activity IDA
IDA: 通过直接分析推断
8663599 GOA
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 cholesterol biosynthetic process IDA
IDA: 通过直接分析推断
8663599 GOA
involved in response to cholesterol IEP
IEP: 通过表达模式推断
10191291 GOA
involved in sterol biosynthetic process IDA
IDA: 通过直接分析推断
16519518 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
14729858 GOA
NOT located in peroxisome IDA
IDA: 通过直接分析推断
14729858 GOA
located in peroxisome IDA
IDA: 通过直接分析推断
17180682 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

PMVK 蛋白结构

P-mevalo_kinase

P-mevalo_kinase: Phosphomevalonate kinase (14 - 125)

  • 0
  • 100
  • 192 a.a.
蛋白主名 其他名称

phosphomevalonate kinase

testis tissue sperm-binding protein Li 95mP

PMVK 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
PMVK Q15126 ZNF177 Homo sapiens Q13360-2
Y2H Prey Pooling
32296183
种属内
PMVK Q15126 ZNF177 Homo sapiens Q13360-2
Y2H Array
32296183
种属内
PMVK Q15126 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
种属内
PMVK Q15126 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
种属内
PMVK Q15126 DDIT4L Homo sapiens Q96D03
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 PMVK 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71217 PMVK Protein, Human (His) Q15126 (M1-L192) ≥95%

关联疾病

疾病名称 别名
Porokeratosis 1, Multiple Types

Porokeratosis Of Mibelli

POROK1

Porokeratosis 1, Mibelli Type
Linear Porokeratosis

Congenital Facial Linear Porokeratosis

Porokeratosis, Linear
Porokeratosis

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 1
Punctate Porokeratosis

Porokeratosis, Punctate

Keratoderma, Palmoplantar, Punctate Type Ii
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Nutritional Deficiency Disease

Malnutrition

Nutritional Disorder

Nutritional Deficiency

Nutrition

Deficiency Diseases

Carbamoyl-Phosphate Synthase I Deficiency Disease

Nutrition Disorders
Discitis
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-RS10774 PMVK Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PMVK VGNC VGNC:44739
Felis catus PMVK VGNC VGNC:68928
Macaca mulatta PMVK VGNC VGNC:106474
Rattus norvegicus PMVK RGD RGD:1310812
Bos taurus PMVK VGNC VGNC:33078
Mus musculus PMVK MGD MGI:1915853
Others PMVK NCBI
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