LOCUS       NM_001099735            1476 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens creatine kinase, mitochondrial 2 (CKMT2), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001099735
VERSION     NM_001099735.2
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 1476)
  AUTHORS   Rizo-Roca,D., Guimaraes,D.S.P.S.F., Pendergrast,L.A., Di Leo,N.,
            Chibalin,A.V., Maqdasy,S., Ryden,M., Naslund,E., Zierath,J.R. and
            Krook,A.
  TITLE     Decreased mitochondrial creatine kinase 2 impairs skeletal muscle
            mitochondrial function independently of insulin in type 2 diabetes
  JOURNAL   Sci Transl Med 16 (768), eado3022 (2024)
   PUBMED   39383244
  REMARK    GeneRIF: Decreased mitochondrial creatine kinase 2 impairs skeletal
            muscle mitochondrial function independently of insulin in type 2
            diabetes.
REFERENCE   2  (bases 1 to 1476)
  AUTHORS   Lin,W., Zhou,J., Ma,Y., Ge,L., Luo,Y., Wang,Y. and Zhou,S.
  TITLE     Prognostic value of mitochondrial CKMT2 in Pan-cancer and its tumor
            immune correlation analysis
  JOURNAL   Sci Rep 14 (1), 342 (2024)
   PUBMED   38172162
  REMARK    GeneRIF: Prognostic value of mitochondrial CKMT2 in Pan-cancer and
            its tumor immune correlation analysis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1476)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 1476)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1476)
  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   6  (bases 1 to 1476)
  AUTHORS   Payne,R.M. and Strauss,A.W.
  TITLE     Expression of the mitochondrial creatine kinase genes
  JOURNAL   Mol Cell Biochem 133-134, 235-243 (1994)
   PUBMED   7808456
  REMARK    Review article
REFERENCE   7  (bases 1 to 1476)
  AUTHORS   Richard,I., Devaud,C., Cherif,D., Cohen,D. and Beckmann,J.S.
  TITLE     The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2),
            maps to chromosome 5q13.3
  JOURNAL   Genomics 18 (1), 134-136 (1993)
   PUBMED   8276398
REFERENCE   8  (bases 1 to 1476)
  AUTHORS   Klein,S.C., Haas,R.C., Perryman,M.B., Billadello,J.J. and
            Strauss,A.W.
  TITLE     Regulatory element analysis and structural characterization of the
            human sarcomeric mitochondrial creatine kinase gene
  JOURNAL   J Biol Chem 266 (27), 18058-18065 (1991)
   PUBMED   1917943
REFERENCE   9  (bases 1 to 1476)
  AUTHORS   Haas,R.C. and Strauss,A.W.
  TITLE     Separate nuclear genes encode sarcomere-specific and ubiquitous
            human mitochondrial creatine kinase isoenzymes
  JOURNAL   J Biol Chem 265 (12), 6921-6927 (1990)
   PUBMED   2324105
REFERENCE   10 (bases 1 to 1476)
  AUTHORS   Haas,R.C., Korenfeld,C., Zhang,Z.F., Perryman,B., Roman,D. and
            Strauss,A.W.
  TITLE     Isolation and characterization of the gene and cDNA encoding human
            mitochondrial creatine kinase
  JOURNAL   J Biol Chem 264 (5), 2890-2897 (1989)
   PUBMED   2914937
  REMARK    Erratum:[J Biol Chem 1989 Sep 25;264(27):16332]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB479765.1, BC029140.1 and
            AW300490.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001099735.1.
            
            Summary: Mitochondrial creatine kinase (MtCK) is responsible for
            the transfer of high energy phosphate from mitochondria to the
            cytosolic carrier, creatine. It belongs to the creatine kinase
            isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and
            ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine
            kinase occurs in two different oligomeric forms: dimers and
            octamers, in contrast to the exclusively dimeric cytosolic creatine
            kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80%
            homology with the coding exons of ubiquitous mitochondrial creatine
            kinase. This gene contains sequences homologous to several motifs
            that are shared among some nuclear genes encoding mitochondrial
            proteins and thus may be essential for the coordinated activation
            of these genes during mitochondrial biogenesis. Three transcript
            variants encoding the same protein have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All three variants encode the same protein.
            
            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 :: SRR5189655.63632.1,
                                           SRR5189655.117948.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000254035.9/
                                                  ENSP00000254035.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                DB479765.1         38-93
            57-1474             BC029140.1         40-1457
            1475-1476           AW300490.1         9-10                c
FEATURES             Location/Qualifiers
     source          1..1476
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     gene            1..1476
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /note="creatine kinase, mitochondrial 2"
                     /db_xref="GeneID:1160"
                     /db_xref="HGNC:HGNC:1996"
                     /db_xref="MIM:123295"
     exon            1..56
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     exon            57..228
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1336
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /EC_number="2.7.3.2"
                     /note="basic-type mitochondrial creatine kinase; creatine
                     kinase S-type, mitochondrial; S-MtCK; mib-CK; sarcomeric
                     mitochondrial creatine kinase; creatine kinase,
                     mitochondrial 2 (sarcomeric)"
                     /codon_start=1
                     /product="creatine kinase S-type, mitochondrial precursor"
                     /protein_id="NP_001093205.1"
                     /db_xref="CCDS:CCDS4053.1"
                     /db_xref="GeneID:1160"
                     /db_xref="HGNC:HGNC:1996"
                     /db_xref="MIM:123295"
                     /translation="MASIFSKLLTGRNASLLFATMGTSVLTTGYLLNRQKVCAEVREQ
                     PRLFPPSADYPDLRKHNNCMAECLTPAIYAKLRNKVTPNGYTLDQCIQTGVDNPGHPF
                     IKTVGMVAGDEESYEVFADLFDPVIKLRHNGYDPRVMKHTTDLDASKITQGQFDEHYV
                     LSSRVRTGRSIRGLSLPPACTRAERREVENVAITALEGLKGDLAGRYYKLSEMTEQDQ
                     QRLIDDHFLFDKPVSPLLTCAGMARDWPDARGIWHNYDKTFLIWINEEDHTRVISMEK
                     GGNMKRVFERFCRGLKEVERLIQERGWEFMWNERLGYILTCPSNLGTGLRAGVHVRIP
                     KLSKDPRFSKILENLRLQKRGTGGVDTAAVADVYDISNIDRIGRSEVELVQIVIDGVN
                     YLVDCEKKLERGQDIKVPPPLPQFGKK"
     exon            229..427
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     exon            428..523
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     exon            524..745
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     exon            746..831
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     exon            832..955
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1090
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1216
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1476
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1456..1461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /note="hexamer: AATAAA"
     polyA_site      1476
                     /gene="CKMT2"
                     /gene_synonym="SMTCK"
                     /note="major polyA site"
ORIGIN      
        1 gcatacactt cttggctgtg tgcgctcagc aggacgtggg aggctccggc ttcaagacac
       61 tcatccaaga ggaaggatgg ccagtatctt ttctaagttg ctaactggcc gcaatgcttc
      121 tctgctgttt gctaccatgg gcaccagtgt cctgaccacc gggtacctgc tgaaccggca
      181 gaaagtgtgt gccgaggtcc gggagcagcc taggctattt cctccaagcg cagactaccc
      241 agacctgcgc aagcacaaca actgcatggc cgagtgcctc acccccgcca tttatgccaa
      301 gcttcgcaac aaggtgacac ccaacggcta cacgctggac cagtgcatcc agactggagt
      361 ggacaaccct ggccacccct tcataaagac tgtgggcatg gtggctggtg acgaggagtc
      421 ctatgaggtg tttgctgacc tttttgaccc cgtcatcaaa ctaagacaca acggctatga
      481 ccccagggtg atgaagcaca caacggatct ggatgcatca aagatcaccc aagggcagtt
      541 cgacgagcat tacgtgctgt cttctcgggt gcgcactggc cgcagcatcc gtgggctgag
      601 cctgcctcca gcctgcaccc gggccgagcg aagggaggta gagaacgtgg ccatcactgc
      661 cctggagggc ctcaaggggg acctggctgg ccgctactac aagctgtccg agatgacgga
      721 gcaggaccag cagcggctca tcgatgacca ctttctgttt gataagccag tgtccccttt
      781 attaacatgt gctgggatgg cccgtgactg gccagatgcc aggggaatct ggcataatta
      841 tgataagaca tttctcatct ggataaatga ggaggatcac accagggtaa tctcaatgga
      901 aaaaggaggc aatatgaaac gagtatttga gcgattctgt cgtggactaa aagaagtaga
      961 acggttaatc caagaacgag gctgggagtt catgtggaat gagcgcctag gatacatttt
     1021 gacctgtcct tcgaaccttg gaacaggact acgagctggt gtccacgtta ggatcccaaa
     1081 gctcagcaag gacccacgct tttctaagat cctggaaaac ctaagactcc agaagcgtgg
     1141 cacaggtggt gtggacactg ccgcggtcgc agatgtgtac gacatttcca acatagatag
     1201 aattggtcga tcagaggttg agcttgttca gatagtcatc gatggagtca attacctggt
     1261 ggattgtgaa aagaagttgg agagaggcca agatattaag gtgccacccc ctctgcctca
     1321 gtttggcaaa aagtaaactt tccctttccc aatttataaa taatctgtct gctggtacga
     1381 cagacataaa tctctactct gagagttttt atacacttgg aaaaatataa aattgtagat
     1441 cctgcctatc tttacaataa aactctcctt aatata
//
