LOCUS       NM_023556               1707 bp    mRNA    linear   ROD 07-FEB-2024
DEFINITION  Mus musculus mevalonate kinase (Mvk), transcript variant 2, mRNA.
ACCESSION   NM_023556 XM_991063
VERSION     NM_023556.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1707)
  AUTHORS   Gamart,J., Barozzi,I., Laurent,F., Reinhardt,R., Martins,L.R.,
            Oberholzer,T., Visel,A., Zeller,R. and Zuniga,A.
  TITLE     SMAD4 target genes are part of a transcriptional network that
            integrates the response to BMP and SHH signaling during early limb
            bud patterning
  JOURNAL   Development 148 (23) (2021)
   PUBMED   34822715
REFERENCE   2  (bases 1 to 1707)
  AUTHORS   Choquet,H., Melles,R.B., Anand,D., Yin,J., Cuellar-Partida,G.,
            Wang,W., Hoffmann,T.J., Nair,K.S., Hysi,P.G., Lachke,S.A. and
            Jorgenson,E.
  CONSRTM   23andMe Research Team
  TITLE     A large multiethnic GWAS meta-analysis of cataract identifies new
            risk loci and sex-specific effects
  JOURNAL   Nat Commun 12 (1), 3595 (2021)
   PUBMED   34127677
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1707)
  AUTHORS   Mohammed,Y., Michaud,S.A., Petrosova,H., Yang,J., Ganguly,M.,
            Schibli,D., Flenniken,A.M., Nutter,L.M.J., Adissu,H.A.,
            Lloyd,K.C.K., McKerlie,C. and Borchers,C.H.
  TITLE     Proteotyping of knockout mouse strains reveals sex- and
            strain-specific signatures in blood plasma
  JOURNAL   NPJ Syst Biol Appl 7 (1), 25 (2021)
   PUBMED   34050187
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1707)
  AUTHORS   Munkacsi,A.B., Hammond,N., Schneider,R.T., Senanayake,D.S.,
            Higaki,K., Lagutin,K., Bloor,S.J., Ory,D.S., Maue,R.A., Chen,F.W.,
            Hernandez-Ono,A., Dahlson,N., Repa,J.J., Ginsberg,H.N.,
            Ioannou,Y.A. and Sturley,S.L.
  TITLE     Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model
            of Niemann-Pick Type C Disease Treated with the Histone Deacetylase
            Inhibitor Vorinostat
  JOURNAL   J Biol Chem 292 (11), 4395-4410 (2017)
   PUBMED   28031458
REFERENCE   5  (bases 1 to 1707)
  AUTHORS   Lowther,K.M., Favero,F., Yang,C.R., Taylor,H.S. and Seli,E.
  TITLE     Embryonic poly(A)-binding protein is required at the preantral
            stage of mouse folliculogenesis for oocyte-somatic communication
  JOURNAL   Biol Reprod 96 (2), 341-351 (2017)
   PUBMED   28203794
REFERENCE   6  (bases 1 to 1707)
  AUTHORS   Cho,Y.K., Rios,S.E., Kim,J.J. and Miziorko,H.M.
  TITLE     Investigation of invariant serine/threonine residues in mevalonate
            kinase. Tests of the functional significance of a proposed
            substrate binding motif and a site implicated in human inherited
            disease
  JOURNAL   J Biol Chem 276 (16), 12573-12578 (2001)
   PUBMED   11278915
REFERENCE   7  (bases 1 to 1707)
  AUTHORS   Klingenspor,M., Xu,P., Cohen,R.D., Welch,C. and Reue,K.
  TITLE     Altered gene expression pattern in the fatty liver dystrophy mouse
            reveals impaired insulin-mediated cytoskeleton dynamics
  JOURNAL   J Biol Chem 274 (33), 23078-23084 (1999)
   PUBMED   10438476
REFERENCE   8  (bases 1 to 1707)
  AUTHORS   Houten,S.M., Romeijn,G.J., Koster,J., Gray,R.G., Darbyshire,P.,
            Smit,G.P., de Klerk,J.B., Duran,M., Gibson,K.M., Wanders,R.J. and
            Waterham,H.R.
  TITLE     Identification and characterization of three novel missense
            mutations in mevalonate kinase cDNA causing mevalonic aciduria, a
            disorder of isoprene biosynthesis
  JOURNAL   Hum Mol Genet 8 (8), 1523-1528 (1999)
   PUBMED   10401001
REFERENCE   9  (bases 1 to 1707)
  AUTHORS   Gu,L., Johnson,M.W. and Lusis,A.J.
  TITLE     Quantitative trait locus analysis of plasma lipoprotein levels in
            an autoimmune mouse model : interactions between lipoprotein
            metabolism, autoimmune disease, and atherogenesis
  JOURNAL   Arterioscler Thromb Vasc Biol 19 (2), 442-453 (1999)
   PUBMED   9974430
REFERENCE   10 (bases 1 to 1707)
  AUTHORS   Welch,C.L., Xia,Y.R., Gu,L.J., Machleder,D., Mehrabian,M.,
            Wen,P.Z., Webb,N., de Villiers,W.J., van der Westhuyzen,D. and
            Lusis,A.J.
  TITLE     Srb1 maps to mouse chromosome 5 in a region harboring putative QTLs
            for plasma lipoprotein levels
  JOURNAL   Mamm Genome 8 (12), 942-944 (1997)
   PUBMED   9383292
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132102.3, AK149630.1 and
            AI849730.1.
            
            [WARNING] On Mar 15, 2024 this sequence was replaced by
            NM_023556.4.
            
            On Apr 19, 2015 this sequence version replaced NM_023556.2.
            
            Summary: This gene encodes mevalonate kinase, a key enzyme involved
            in the biosynthesis of cholesterol and non-sterol isoprenes. The
            complete lack of encoded protein is lethal to mouse embryos. Mice
            lacking one allele of this gene exhibit increased levels of
            mevalonate in spleen, heart and kidney, as well as increased levels
            of serum immunoglobulins A and D. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1. This
            results in a shorter protein (isoform 2), compared to isoform 1.
            
            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 :: BC005606.1, SRR7652917.135401.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                AC132102.3         70217-70248         c
            33-216              AK149630.1         4-187
            217-217             AC132102.3         68329-68329         c
            218-335             AK149630.1         189-306
            336-1468            AK149630.1         343-1475
            1469-1469           AC132102.3         54154-54154         c
            1470-1583           AK149630.1         1477-1590
            1584-1707           AI849730.1         1-124               c
FEATURES             Location/Qualifiers
     source          1..1707
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 55.99 cM"
     gene            1..1707
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /note="mevalonate kinase"
                     /db_xref="GeneID:17855"
                     /db_xref="MGI:MGI:107624"
     exon            1..95
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     exon            96..187
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..1297
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /EC_number="2.7.1.36"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="mevalonate kinase isoform 2"
                     /protein_id="NP_076045.1"
                     /db_xref="CCDS:CCDS19566.1"
                     /db_xref="GeneID:17855"
                     /db_xref="MGI:MGI:107624"
                     /translation="MLSEALLVSAPGKVILHGEHAVVHGKVALAAALNLRTFLLLRPQ
                     SNGKVSVNLPNIGIKQVWDVGMLQRLDTSFLEQGDVSVPTLEQLEKLKKMGDLPRDRA
                     GNEGMALLAFLYLYLAICRKQRTLPSLDMVVWSELPPGAGLGSSAAYSVCLAAALLTA
                     CEEVSNPLKDGVSVSRWPEEDLKSINKWAFEGERVIHGNPSGVDNAVSTWGGALRFQQ
                     GTMSSLKSLPSLQILLTNTKVPRSTKALVAAVRSRLTKFPEIVAPLLTSIDAISLECE
                     RVLGEMVAAPVPEQYLVLEELIDMNQHHLNALGVGHNSLDQLCQVTAAHGLHSKLTGA
                     GGGGCGITLLKPGLEQATVEAAKQALTSCGFDCWETSIGAPGVSTHSAAAVGDPVRQA
                     LGL"
     exon            188..335
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     exon            336..480
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     exon            481..636
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     exon            637..740
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     exon            741..786
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     exon            787..877
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     exon            878..994
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1148
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1697
                     /gene="Mvk"
                     /gene_synonym="2310010A05Rik; MK"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gacacacccg cctccttgga actctcccat ctgatatgga gaagaccggg agctgcggcc
       61 cgggtttcag ctcacttggg cgctggccgg ggcagaagtc tcagaagcca tgttgtcaga
      121 agccctgctg gtgtccgccc cggggaaggt catcctccat ggagaacacg ctgtggtcca
      181 tggcaaggtc gctctggcag cggccttgaa cttgagaact ttcctcctgc tgcgaccgca
      241 gagcaatggg aaagtgagcg tcaatttacc caacatcggt attaagcagg tgtgggatgt
      301 gggcatgctt cagcgactgg acacgagctt tcttgagcaa ggtgatgtct cggtacccac
      361 cttggagcaa ctggagaagc taaagaagat gggggacctc cccagagacc gtgcaggcaa
      421 tgaaggcatg gctctgcttg cctttctcta cctgtacctg gcaatctgcc ggaagcagag
      481 gacactcccg agcctggaca tggtggtgtg gtcggaactt ccccccgggg caggcttggg
      541 ctccagcgcc gcctactctg tgtgtctggc agccgccctc ctgactgcct gtgaggaggt
      601 ctccaacccg ctcaaggacg gggtctccgt cagcaggtgg cccgaggaag atctgaagtc
      661 aatcaacaag tgggccttcg aaggggagag agtgatccat gggaaccctt ctggtgtgga
      721 caatgccgtc agcacctggg gcggagccct gcgcttccag caagggacga tgtcttcctt
      781 gaagagcctc ccgtctctgc agatcctgct caccaacacc aaggtcccgc ggagtaccaa
      841 ggcccttgtg gctgctgtca gaagcaggct gaccaagttc cctgagattg tggccccgct
      901 gctgacctcc attgacgcaa tatccctgga gtgtgagcgc gtgctagggg agatggtggc
      961 agctccagtt ccggaacagt acctcgtact agaagagctg atagacatga accagcacca
     1021 tctgaatgct ctcggggtgg gccacaactc cctggaccag ctctgccaag taacggcagc
     1081 acacggactg cacagcaagc tgacgggcgc tggcggtggc ggctgtggca tcaccctcct
     1141 gaagccaggt ctagagcaag ccacagtgga ggcagccaag caggccctga ccagctgcgg
     1201 gtttgactgc tgggagacca gcatcggcgc acccggagtt tccacacact cagctgcagc
     1261 tgtaggggac cctgtccgac aagccctggg cctctgagac cacccgacac accatcctac
     1321 caagaagcct ctaagtatct ggggctggag ttggcctgca ccttctagac tctgacctca
     1381 tccgtgttct gccgtttctg aagccaggca gggattagtt gtggggtctt ctgagatggc
     1441 aggctgacac aggaggcctt cgccctggag ctcctatggg cacatcggcc tcacacaaac
     1501 tctctggctc ctagccacgc actcttctgt ccagccacga tgtcccctaa ggaaccacct
     1561 ggccagcagc tcgtggctcc tggctcctgg ctcttgccct ctctcggaga tcatcagctg
     1621 aggcaaggca tgccgactgc ctgtctccgt gtggaaaagc tgctgtgggg gaaataaaaa
     1681 gaaatagtac aaacaaaaaa aaaaaaa
//
