ENSG00000167508


Homo sapiens

Features
Gene ID: ENSG00000167508
  
Biological name :MVD
  
Synonyms : mevalonate diphosphate decarboxylase / MVD / P53602
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q24.2
Gene start: 88651935
Gene end: 88663161
  
Corresponding Affymetrix probe sets: 203027_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000455131
Ensembl peptide - ENSP00000456465
Ensembl peptide - ENSP00000458049
Ensembl peptide - ENSP00000301012
Ensembl peptide - ENSP00000455602
NCBI entrez gene - 4597     See in Manteia.
OMIM - 603236
RefSeq - XM_011523089
RefSeq - NM_002461
RefSeq - XM_011523086
RefSeq - XM_011523087
RefSeq - XM_011523088
RefSeq Peptide - NP_002452
swissprot - P53602
swissprot - H3BQ47
swissprot - H3BRZ1
swissprot - H3BVC4
swissprot - H3BP35
Ensembl - ENSG00000167508
  
Related genetic diseases (OMIM): 614714 - Porokeratosis 7, multiple types, 614714
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mvdaENSDARG00000099336Danio rerio
 MVDENSGALG00000007267Gallus gallus
 MvdENSMUSG00000006517Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR005935  Diphosphomevalonate/phosphomevalonate decarboxylase
 IPR006204  GHMP kinase N-terminal domain
 IPR014721  Ribosomal protein S5 domain 2-type fold, subgroup
 IPR020568  Ribosomal protein S5 domain 2-type fold
 IPR029765  Diphosphomevalonate decarboxylase
 IPR036554  GHMP kinase, C-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006489 dolichyl diphosphate biosynthetic process TAS
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006695 cholesterol biosynthetic process TAS
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008299 isoprenoid biosynthetic process IEA
 biological_processGO:0016126 sterol biosynthetic process IEA
 biological_processGO:0019287 isopentenyl diphosphate biosynthetic process, mevalonate pathway IBA
 biological_processGO:0045540 regulation of cholesterol biosynthetic process TAS
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004163 diphosphomevalonate decarboxylase activity TAS
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0016831 carboxy-lyase activity IEA
 molecular_functionGO:0030544 Hsp70 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis
Activation of gene expression by SREBF (SREBP)
Synthesis of Dolichyl-phosphate


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0000992 Photosensitivity "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators]
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 HP:0002860 Squamous cell carcinoma 
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 HP:0200044 Porokeratosis "A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000167508 MVD / P53602 / mevalonate diphosphate decarboxylase  / complex






 

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