LOCUS       NM_000431               2833 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens mevalonate kinase (MVK), transcript variant 1, mRNA.
ACCESSION   NM_000431
VERSION     NM_000431.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2833)
  AUTHORS   Politiek,F.A., Turkenburg,M., Ofman,R. and Waterham,H.R.
  TITLE     Mevalonate kinase-deficient THP-1 cells show a
            disease-characteristic pro-inflammatory phenotype
  JOURNAL   Front Immunol 15, 1379220 (2024)
   PUBMED   38550596
  REMARK    GeneRIF: Mevalonate kinase-deficient THP-1 cells show a
            disease-characteristic pro-inflammatory phenotype.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2833)
  AUTHORS   Hui,H.Z., Wang,Y.J., Cheng,J.R., Mao,H., Guo,H.X. and Shi,B.J.
  TITLE     A novel missense mutation in the MVK gene is associated with
            disseminated superficial porokeratosis
  JOURNAL   Int J Dermatol 62 (4), e223-e225 (2023)
   PUBMED   36371681
  REMARK    GeneRIF: A novel missense mutation in the MVK gene is associated
            with disseminated superficial porokeratosis.
REFERENCE   3  (bases 1 to 2833)
  AUTHORS   Li,L., Zuo,N., Yang,D., Zhang,D., Feng,Y. and Li,X.
  TITLE     Novel missense mutations of MVK and FDPS gene in Chinese patients
            with disseminated superficial actinic porokeratosis
  JOURNAL   Clin Chim Acta 523, 441-445 (2021)
   PUBMED   34751146
  REMARK    GeneRIF: Novel missense mutations of MVK and FDPS gene in Chinese
            patients with disseminated superficial actinic porokeratosis.
REFERENCE   4  (bases 1 to 2833)
  AUTHORS   Brennenstuhl,H., Nashawi,M., Schroter,J., Baronio,F., Beedgen,L.,
            Gleich,F., Jeltsch,K., von Landenberg,C., Martini,S., Simon,A.,
            Thiel,C., Tsiakas,K., Opladen,T., Kolker,S., Hoffmann,G.F. and
            Haas,D.
  CONSRTM   Unified Registry for Inherited Metabolic Disorders (U-IMD)
            Consortium and the European Registry for Hereditary Metabolic
            Disorders (MetabERN)
  TITLE     Phenotypic diversity, disease progression, and pathogenicity of MVK
            missense variants in mevalonic aciduria
  JOURNAL   J Inherit Metab Dis 44 (5), 1272-1287 (2021)
   PUBMED   34145613
  REMARK    GeneRIF: Phenotypic diversity, disease progression, and
            pathogenicity of MVK missense variants in mevalonic aciduria.
REFERENCE   5  (bases 1 to 2833)
  AUTHORS   Govindaraj,G.M., Jain,A., Peethambaran,G., Bhoyar,R.C.,
            Vellarikkal,S.K., Ganapati,A., Sandhya,P., Edavazhippurath,A.,
            Dhanasooraj,D., Puthenpurayil,J.M., Chakkiyar,K., Mishra,A.,
            Batra,A., Punnen,A., Kumar,S., Sivasubbu,S. and Scaria,V.
  TITLE     Spectrum of clinical features and genetic variants in mevalonate
            kinase (MVK) gene of South Indian families suffering from
            Hyperimmunoglobulin D Syndrome
  JOURNAL   PLoS One 15 (8), e0237999 (2020)
   PUBMED   32822427
  REMARK    GeneRIF: Spectrum of clinical features and genetic variants in
            mevalonate kinase (MVK) gene of South Indian families suffering
            from Hyperimmunoglobulin D Syndrome.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2833)
  AUTHORS   Graef,E., Caselmann,W.H., Wells,J. and Koshy,R.
  TITLE     Insertional activation of mevalonate kinase by hepatitis B virus
            DNA in a human hepatoma cell line
  JOURNAL   Oncogene 9 (1), 81-87 (1994)
   PUBMED   8302606
REFERENCE   7  (bases 1 to 2833)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   8  (bases 1 to 2833)
  AUTHORS   Krisans,S.K.
  TITLE     The role of peroxisomes in cholesterol metabolism
  JOURNAL   Am J Respir Cell Mol Biol 7 (4), 358-364 (1992)
   PUBMED   1356376
  REMARK    Review article
REFERENCE   9  (bases 1 to 2833)
  AUTHORS   Schafer,B.L., Bishop,R.W., Kratunis,V.J., Kalinowski,S.S.,
            Mosley,S.T., Gibson,K.M. and Tanaka,R.D.
  TITLE     Molecular cloning of human mevalonate kinase and identification of
            a missense mutation in the genetic disease mevalonic aciduria
  JOURNAL   J Biol Chem 267 (19), 13229-13238 (1992)
   PUBMED   1377680
REFERENCE   10 (bases 1 to 2833)
  AUTHORS   Kopito,R.R. and Brunengraber,H.
  TITLE     (R)-mevalonate excretion in human and rat urines
  JOURNAL   Proc Natl Acad Sci U S A 77 (10), 5738-5740 (1980)
   PUBMED   6255462
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC421549.1, M88468.1,
            BC016140.1, R51202.1 and AC007570.23.
            
            On Nov 22, 2018 this sequence version replaced NM_000431.3.
            
            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].
            
            Transcript Variant: This variant (1) encodes isoform a. Variants 1,
            2, and 4 all encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.786103.1,
                                           SRR3476690.971180.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000228510.8/ ENSP00000228510.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DC421549.1         100-117
            19-1690             M88468.1           16-1687
            1691-1974           BC016140.1         1633-1916
            1975-1978           R51202.1           8-11                c
            1979-2833           AC007570.23        8043-8897           c
FEATURES             Location/Qualifiers
     source          1..2833
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..2833
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /note="mevalonate kinase"
                     /db_xref="GeneID:4598"
                     /db_xref="HGNC:HGNC:7530"
                     /db_xref="MIM:251170"
     exon            1..80
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     exon            81..172
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..1285
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /EC_number="2.7.1.36"
                     /note="isoform a is encoded by transcript variant 1; LH
                     receptor mRNA-binding protein; mevalonate kinase 1"
                     /codon_start=1
                     /product="mevalonate kinase isoform a"
                     /protein_id="NP_000422.1"
                     /db_xref="CCDS:CCDS9132.1"
                     /db_xref="GeneID:4598"
                     /db_xref="HGNC:HGNC:7530"
                     /db_xref="MIM:251170"
                     /translation="MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPH
                     SNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCA
                     VTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTV
                     CEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQ
                     GKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECE
                     RVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGA
                     GGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQA
                     LDGL"
     exon            173..320
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     exon            321..465
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     exon            466..621
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     exon            622..725
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     exon            726..771
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     exon            772..862
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     exon            863..979
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1133
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..2833
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1949..1954
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /note="hexamer: AATAAA"
     polyA_site      1971
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /note="major polyA site"
     regulatory      2798..2803
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
                     /note="hexamer: CATAAA"
     polyA_site      2833
                     /gene="MVK"
                     /gene_synonym="LRBP; MK; MVLK; POROK3"
ORIGIN      
        1 gctctgggtt gtgggagttg gggagctgct ccggcttcgg cgcggagggg cggcggccgg
       61 ggaggcggcg gcggcggcag gattcccagg agccatgttg tcagaagtcc tactggtgtc
      121 tgctccgggg aaagtcatcc ttcatggaga acatgccgtg gtacatggca aggtagcact
      181 ggctgtatcc ttgaacttga gaacattcct ccggcttcaa ccccacagca atgggaaagt
      241 ggacctcagc ttacccaaca ttggtatcaa gcgggcctgg gatgtggcca ggcttcagtc
      301 actggacaca agctttctgg agcaaggtga tgtcacaaca cccacctcag agcaagtgga
      361 gaagctaaag gaggttgcag gcttgcctga cgactgtgct gtcaccgagc gcctggctgt
      421 gctggccttt ctttacttat acctgtccat ctgccggaag cagagggccc tgccgagcct
      481 ggatatcgta gtgtggtcgg agctgccccc cggggcgggc ttgggctcca gcgccgccta
      541 ctcggtgtgt ctggcagcag ccctcctgac tgtgtgcgag gagatcccaa acccgctgaa
      601 ggacggggat tgcgtcaaca ggtggaccaa ggaggatttg gagctaatta acaagtgggc
      661 cttccaaggg gagagaatga ttcacgggaa cccctccgga gtggacaatg ctgtcagcac
      721 ctggggagga gccctccgat accatcaagg gaagatttca tccttaaaga ggtcgccagc
      781 tctccagatc ctgctgacca acaccaaagt ccctcgcaat accagggccc ttgtggctgg
      841 cgtcagaaac aggctgctca agttcccaga gatcgtggcc cccctcctga cctcaataga
      901 tgccatctcc ctggagtgtg agcgcgtgct gggagagatg ggggaagccc cagccccgga
      961 gcagtacctc gtgctggaag agctcattga catgaaccag caccatctga atgccctcgg
     1021 cgtgggccac gcctctctgg accagctctg ccaggtgacc agggcccgcg gacttcacag
     1081 caagctgact ggcgcaggcg gtggtggctg tggcatcaca ctcctcaagc cagggctgga
     1141 gcagccagaa gtggaggcca cgaagcaggc cctgaccagc tgtggctttg actgcttgga
     1201 aaccagcatc ggtgcccccg gcgtctccat ccactcagcc acctccctgg acagccgagt
     1261 ccagcaagcc ctggatggcc tctgagagga gcccacgaca ctgcagcccc acccagatgc
     1321 ccctttctgg attattctgg gggctgcagt tcgactctgt gctggccagc gagcgcccag
     1381 ctcctgacac tgctggagag gccccagccg cttggcgatg ccagccaagc tctgcagtcc
     1441 cagcggtggg acctagggag gcatggtctg ccctctgcat cctctggagc cagccgagca
     1501 ggaggcctag gagggtcctc tgagactcca gacctgaggc gagaagggct gcttccctga
     1561 agctcccaca gtcccatctg cttcaggccc ccgccttggc ctgtgttctt cctggccgcc
     1621 tgggtccaat gctcaggtgc tggggcctgg ttcccggaga agtgtgcctt ctctctccct
     1681 tttcagggac cgccccctgt ctctcagggc caggcctctc cctcctccag gaagccttcc
     1741 cctacccctt gtcgcccctc cctcccagag cacctgctgt ctgggtggct cactcagcac
     1801 ttggtgtggc cttcccttct acctagcggg atggggctcc cccaggggct gtcccggagg
     1861 cggtgggcct ggttaaataa ggcagggttt atatgcactt tcttccgatc tgtacctgag
     1921 aggtttgtgg aaaagatggc aaatggggaa taaaaagatt ttgtgtcaac agtagagact
     1981 ccaggccacc agcacctccc tctgtccctg tcccctctcc agctgtttcc tccatggagc
     2041 tcttcagcaa tggagggaaa tagggtttgg ggtcactttg ttgtgcgtct tggggatgag
     2101 gtggcttttc ccagatggcc cttgctggag agggactggg acacggctct cagtccatca
     2161 gcacaactct aggctgctgc tgcggaggga gaagttgagc ttcctagctc cagaatcaca
     2221 agcacccacg agagcacaga cctgtgtaag acaggaaagc agaacctgcc atcgctcctg
     2281 gggcgcgcct tcctttctga aatgaactgg ctggatggag aaaacagact caaatgttct
     2341 ggcccgggtg cctggcactc cccacccccg ccccccaccg gccctatttg aactttatat
     2401 tgcagtcagc ttggtgcttt ccgaaatgcc attagccatc aggaaaccct tgtagttggt
     2461 gccttgccag ccagaacctc tgggacccac ggacctgcaa agaggccgag tggaaaggtg
     2521 ggggccggcg cagggatttc aggatgaggt gaaagcgatt cagtgcgcgt ctgcccttgg
     2581 ccactagggg gcagctggcg gccttccctg ctgttgtctt cctgcagggt gagaggagca
     2641 ggagccgagc tccaccccca cgccagcctt gggcccggcc tgggatcact gctgggaacg
     2701 tgagagtgaa gggaggacgc ctaccccagc ttaacttgta gaaatggccc cagatcactg
     2761 atggctgttc cctgcccctt cccttcaaaa cacaacgcat aaagcagtaa tactaattaa
     2821 tactgaacgc tca
//
