LOCUS       NM_006556               1002 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens phosphomevalonate kinase (PMVK), transcript variant 1,
            mRNA.
ACCESSION   NM_006556
VERSION     NM_006556.4
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 1002)
  AUTHORS   Jaiswal,R.K., Lei,K.H., Chastain,M., Wang,Y., Shiva,O., Li,S.,
            You,Z., Chi,P. and Chai,W.
  TITLE     CaMKK2 and CHK1 phosphorylate human STN1 in response to replication
            stress to protect stalled forks from aberrant resection
  JOURNAL   Nat Commun 14 (1), 7882 (2023)
   PUBMED   38036565
  REMARK    GeneRIF: CaMKK2 and CHK1 phosphorylate human STN1 in response to
            replication stress to protect stalled forks from aberrant
            resection.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1002)
  AUTHORS   Xiao,J., Jin,S., Wang,X., Huang,J. and Zou,H.
  TITLE     CELF1 Selectively Regulates Alternative Splicing of DNA Repair
            Genes Associated With Cataract in Human Lens Cell Line
  JOURNAL   Biochem Genet 61 (4), 1319-1333 (2023)
   PUBMED   36585568
  REMARK    GeneRIF: CELF1 Selectively Regulates Alternative Splicing of DNA
            Repair Genes Associated With Cataract in Human Lens Cell Line.
REFERENCE   3  (bases 1 to 1002)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1002)
  AUTHORS   Wang,J., Liu,Y., Liu,F., Huang,C., Han,S., Lv,Y., Liu,C.J.,
            Zhang,S., Qin,Y., Ling,L., Gao,M., Yu,S., Li,C., Huang,M., Liao,S.,
            Hu,X., Lu,Z., Liu,X., Jiang,T., Tang,Z., Zhang,H., Guo,A.Y. and
            Liu,M.
  TITLE     Loss-of-function Mutation in PMVK Causes Autosomal Dominant
            Disseminated Superficial Porokeratosis
  JOURNAL   Sci Rep 6, 24226 (2016)
   PUBMED   27052676
  REMARK    GeneRIF: Data indicate that exome sequencing revealed disseminated
            superficial porokeratosis (DSP)-associated mutations in
            phosphomevalonate kinase gene (PMVK).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1002)
  AUTHORS   Miziorko,H.M.
  TITLE     Enzymes of the mevalonate pathway of isoprenoid biosynthesis
  JOURNAL   Arch Biochem Biophys 505 (2), 131-143 (2011)
   PUBMED   20932952
  REMARK    Review article
REFERENCE   6  (bases 1 to 1002)
  AUTHORS   Andreassi,J.L. 2nd and Leyh,T.S.
  TITLE     Molecular functions of conserved aspects of the GHMP kinase family
  JOURNAL   Biochemistry 43 (46), 14594-14601 (2004)
   PUBMED   15544330
REFERENCE   7  (bases 1 to 1002)
  AUTHORS   Hogenboom,S., Tuyp,J.J., Espeel,M., Koster,J., Wanders,R.J. and
            Waterham,H.R.
  TITLE     Phosphomevalonate kinase is a cytosolic protein in humans
  JOURNAL   J Lipid Res 45 (4), 697-705 (2004)
   PUBMED   14729858
  REMARK    GeneRIF: found an exclusive cytosolic localization of both
            endogenously expressed PMVK(in human fibroblasts, human liver, and
            HEK293 cells) and overexpressed PMVK.  No indication of a
            peroxisomal localization was obtained.
REFERENCE   8  (bases 1 to 1002)
  AUTHORS   Hogenboom,S., Wanders,R.J. and Waterham,H.R.
  TITLE     Cholesterol biosynthesis is not defective in peroxisome biogenesis
            defective fibroblasts
  JOURNAL   Mol Genet Metab 80 (3), 290-295 (2003)
   PUBMED   14680974
REFERENCE   9  (bases 1 to 1002)
  AUTHORS   Olivier,L.M., Chambliss,K.L., Gibson,K.M. and Krisans,S.K.
  TITLE     Characterization of phosphomevalonate kinase: chromosomal
            localization, regulation, and subcellular targeting
  JOURNAL   J Lipid Res 40 (4), 672-679 (1999)
   PUBMED   10191291
REFERENCE   10 (bases 1 to 1002)
  AUTHORS   Chambliss,K.L., Slaughter,C.A., Schreiner,R., Hoffmann,G.F. and
            Gibson,K.M.
  TITLE     Molecular cloning of human phosphomevalonate kinase and
            identification of a consensus peroxisomal targeting sequence
  JOURNAL   J Biol Chem 271 (29), 17330-17334 (1996)
   PUBMED   8663599
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC007694.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006556.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR1163655.65833.1, BC007694.2
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368467.4/ ENSP00000357452.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1002              BC007694.2         203-1204
FEATURES             Location/Qualifiers
     source          1..1002
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1002
                     /gene="PMVK"
                     /gene_synonym="HUMPMKI; PMK; PMKA; PMKASE; POROK1"
                     /note="phosphomevalonate kinase"
                     /db_xref="GeneID:10654"
                     /db_xref="HGNC:HGNC:9141"
                     /db_xref="MIM:607622"
     exon            1..129
                     /gene="PMVK"
                     /gene_synonym="HUMPMKI; PMK; PMKA; PMKASE; POROK1"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..613
                     /gene="PMVK"
                     /gene_synonym="HUMPMKI; PMK; PMKA; PMKASE; POROK1"
                     /EC_number="2.7.4.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     testis tissue sperm-binding protein Li 95mP"
                     /codon_start=1
                     /product="phosphomevalonate kinase isoform 1"
                     /protein_id="NP_006547.1"
                     /db_xref="CCDS:CCDS1073.1"
                     /db_xref="GeneID:10654"
                     /db_xref="HGNC:HGNC:9141"
                     /db_xref="MIM:607622"
                     /translation="MAPLGGAPRLVLLFSGKRKSGKDFVTEALQSRLGADVCAVLRLS
                     GPLKEQYAQEHGLNFQRLLDTSTYKEAFRKDMIRWGEEKRQADPGFFCRKIVEGISQP
                     IWLVSDTRRVSDIQWFREAYGAVTQTVRVVALEQSRQQRGWVFTPGVDDAESECGLDN
                     FGDFDWVIENHGVEQRLEEQLENLIEFIRSRL"
     exon            130..193
                     /gene="PMVK"
                     /gene_synonym="HUMPMKI; PMK; PMKA; PMKASE; POROK1"
                     /inference="alignment:Splign:2.1.0"
     exon            194..346
                     /gene="PMVK"
                     /gene_synonym="HUMPMKI; PMK; PMKA; PMKASE; POROK1"
                     /inference="alignment:Splign:2.1.0"
     exon            347..476
                     /gene="PMVK"
                     /gene_synonym="HUMPMKI; PMK; PMKA; PMKASE; POROK1"
                     /inference="alignment:Splign:2.1.0"
     exon            477..1002
                     /gene="PMVK"
                     /gene_synonym="HUMPMKI; PMK; PMKA; PMKASE; POROK1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      983..988
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMVK"
                     /gene_synonym="HUMPMKI; PMK; PMKA; PMKASE; POROK1"
                     /note="hexamer: AATAAA"
     polyA_site      1002
                     /gene="PMVK"
                     /gene_synonym="HUMPMKI; PMK; PMKA; PMKASE; POROK1"
                     /note="major polyA site"
ORIGIN      
        1 gtcagcttca ggcatcgcga ggcgtggcgg ccccatggcc ccgctgggag gcgccccgcg
       61 gctggtactg ctgttcagcg gcaagaggaa atccgggaag gacttcgtga ccgaggcgct
      121 gcagagcaga cttggagctg atgtctgtgc tgtcctccgg ctctctggtc cactcaagga
      181 acagtatgct caggagcatg gcttgaactt ccagagactc ctggacacca gcacctacaa
      241 ggaggccttt cggaaggaca tgatccgctg gggagaggag aaacgccagg ctgacccagg
      301 cttcttttgc aggaagattg tggagggcat ctcccagccc atctggctgg tgagtgacac
      361 acggagagtg tctgacatcc agtggtttcg ggaggcctat ggggccgtga cgcagacggt
      421 ccgcgttgta gcgttggagc agagccgaca gcagcggggc tgggtgttca cgccaggggt
      481 ggacgatgct gagtcagaat gtggcctgga caacttcggg gactttgact gggtcatcga
      541 gaaccatgga gttgaacagc gcctggagga gcagttggag aacctgatag aatttatccg
      601 ctccagactt tagtcactag gttctaggag tgagctgggg cctgctgagg tgggggtggg
      661 gctgactctg caaaatgggg gtgtcccccg atcctggccg aggtgaggaa cagacagggg
      721 gggtctagat tctgaggggg ttggtggata ttgggcaagg caggaaacct ctggagacct
      781 cattttctcc atggggaaga cagccatgct cttcaggagg agactccaag ggcaaaggag
      841 ggtgtcttgg ctgtgcttga aggcgaaacc ctgccatatc cccagtgcca gtcccctcag
      901 cctgtggtgg ccttgcatcc tgactggatg ttctcagccc cttgttctgg gcaagaaccc
      961 agagctcccc agtgtggata ctaataaacc tcttggagca ca
//
