Gene/Proteome Database (LMPD)

LMPD ID
LMP002631
Gene ID
4598
Species
Homo sapiens (Human)
Gene Name
mevalonate kinase
Gene Symbol
MVK
Synonyms
LRBP; MK; MVLK; POROK3
Chromosome
12
Map Location
12q24
Summary
This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Orthologs
View orthologs and multiple alignments for MVK

Proteins

mevalonate kinase isoform a
Refseq ID NP_001107657
Protein GI 167001643
UniProt ID Q03426
mRNA ID NM_001114185
Length 396
RefSeq Status REVIEWED
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL
mevalonate kinase isoform a
Refseq ID NP_000422
Protein GI 4557769
UniProt ID Q03426
mRNA ID NM_000431
Length 396
RefSeq Status REVIEWED
Protein sequence is identical to GI:167001643 (mRNA isoform)
mevalonate kinase isoform b
Refseq ID NP_001288111
Protein GI 167001643
UniProt ID Q03426
mRNA ID NM_001301182
Length 396
RefSeq Status REVIEWED
MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL

Gene Information

Entrez Gene ID
4598
Gene Name
mevalonate kinase
Gene Symbol
MVK
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IEA:InterPro C cytoplasm
GO:0005524 IEA:UniProtKB-KW F ATP binding
GO:0004496 IEA:Ensembl F mevalonate kinase activity
GO:0008299 IEA:InterPro P isoprenoid biosynthetic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04146 Peroxisome
hsa00900 Terpenoid backbone biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_147904 Activation of gene expression by SREBF (SREBP)

Domain Information

InterPro Annotations

Accession Description
IPR006204 GHMP kinase N-terminal domain
IPR006203 GHMP kinase, ATP-binding, conserved site
IPR013750 GHMP kinase, C-terminal domain
IPR006205 Mevalonate kinase
IPR006206 Mevalonate/galactokinase
IPR020568 Ribosomal protein S5 domain 2-type fold
IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup

UniProt Annotations

Entry Information

Gene Name
mevalonate kinase
Protein Entry
B7Z301_HUMAN
UniProt ID
Q03426
Species
Human

Identical and Related Proteins

Unique RefSeq proteins for LMP002631 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
167001643 RefSeq NP_001107657 396 mevalonate kinase isoform a
167001643 RefSeq NP_001288111 396 mevalonate kinase isoform b

Identical Sequences to LMP002631 proteins

Reference Database Accession Length Protein Name
GI:167001643 GenBank ADI53344.1 396 Sequence 2 from patent US 7422884
GI:167001643 GenBank ADI53344.1 396 Sequence 2 from patent US 7422884
GI:167001643 GenBank AGD02020.1 396 Sequence 33 from patent US 8338155
GI:167001643 GenBank AGD02020.1 396 Sequence 33 from patent US 8338155
GI:167001643 GenBank AGF03581.1 396 Sequence 109 from patent US 8361762
GI:167001643 GenBank AGF03581.1 396 Sequence 109 from patent US 8361762
GI:167001643 GenBank AIC49244.1 396 MVK, partial [synthetic construct]
GI:167001643 GenBank AIC49244.1 396 MVK, partial [synthetic construct]
GI:167001643 GenBank AIC62524.1 396 MVK, partial [synthetic construct]
GI:167001643 GenBank AIC62524.1 396 MVK, partial [synthetic construct]
GI:167001643 RefSeq XP_005253940.1 396 PREDICTED: mevalonate kinase isoform X1 [Homo sapiens]
GI:167001643 RefSeq XP_005253940.1 396 PREDICTED: mevalonate kinase isoform X1 [Homo sapiens]

Related Sequences to LMP002631 proteins

Reference Database Accession Length Protein Name
GI:167001643 DBBJ BAD92959.1 421 mevalonate kinase variant, partial [Homo sapiens]
GI:167001643 DBBJ BAD92959.1 421 mevalonate kinase variant, partial [Homo sapiens]
GI:167001643 DBBJ BAG72628.1 396 mevalonate kinase, partial [synthetic construct]
GI:167001643 DBBJ BAG72628.1 396 mevalonate kinase, partial [synthetic construct]
GI:167001643 EMBL CAA53059.1 557 unnamed protein product [Homo sapiens]
GI:167001643 EMBL CAA53059.1 557 unnamed protein product [Homo sapiens]
GI:167001643 GenBank AAQ02416.1 397 mevalonate kinase, partial [synthetic construct]
GI:167001643 GenBank AAQ02416.1 397 mevalonate kinase, partial [synthetic construct]
GI:167001643 RefSeq XP_008956171.1 396 PREDICTED: mevalonate kinase isoform X1 [Pan paniscus]
GI:167001643 RefSeq XP_008956171.1 396 PREDICTED: mevalonate kinase isoform X1 [Pan paniscus]
GI:167001643 RefSeq XP_009424487.1 396 PREDICTED: mevalonate kinase [Pan troglodytes]
GI:167001643 RefSeq XP_009424487.1 396 PREDICTED: mevalonate kinase [Pan troglodytes]