PMVK - phosphomevalonate kinase Gene

Also Known as PMK; PMKA; PMKASE; POROK1; HUMPMKI

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 10654

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables ATP binding IDA
IDA: Inferred from direct assay
16519518 GOA
enables phosphomevalonate kinase activity IDA
IDA: Inferred from direct assay
8663599 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in cholesterol biosynthetic process IDA
IDA: Inferred from direct assay
8663599 GOA
involved in response to cholesterol IEP
IEP: Inferred from expression pattern
10191291 GOA
involved in sterol biosynthetic process IDA
IDA: Inferred from direct assay
16519518 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in cytosol IDA
IDA: Inferred from direct assay
14729858 GOA
NOT located in peroxisome IDA
IDA: Inferred from direct assay
14729858 GOA
located in peroxisome IDA
IDA: Inferred from direct assay
17180682 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

PMVK Protein Structure

P-mevalo_kinase

P-mevalo_kinase: Phosphomevalonate kinase (14 - 125)

  • 0
  • 100
  • 192 a.a.
Protein Preferred Names Protein Names

phosphomevalonate kinase

  • testis tissue sperm-binding protein Li 95mP

PMVK Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
PMVK Q15126 ZNF177 Homo sapiens Q13360-2
Y2H Prey Pooling
32296183
Intra
PMVK Q15126 ZNF177 Homo sapiens Q13360-2
Y2H Array
32296183
Intra
PMVK Q15126 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
Intra
PMVK Q15126 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
Intra
PMVK Q15126 DDIT4L Homo sapiens Q96D03
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PMVK Proteins

製品番号 製品名 アクセッション番号 純度
HY-P71217 PMVK Protein, Human (His) Q15126 (M1-L192) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases Alias
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
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)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS10774 PMVK Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19153 Pmvk Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25642 Pmvk Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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