LOCUS       NM_001321926            1579 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens creatine kinase, mitochondrial 1A (CKMT1A), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001321926 XM_011521728
VERSION     NM_001321926.2
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 1579)
  AUTHORS   Ayyappan,V., Jenkinson,N.M., Tressler,C.M., Tan,Z., Cheng,M.,
            Shen,X.E., Guerrero,A., Sonkar,K., Cai,R., Adelaja,O., Roy,S.,
            Meeker,A., Argani,P. and Glunde,K.
  TITLE     Context-dependent roles for ubiquitous mitochondrial creatine
            kinase CKMT1 in breast cancer progression
  JOURNAL   Cell Rep 43 (4), 114121 (2024)
   PUBMED   38615320
  REMARK    GeneRIF: Context-dependent roles for ubiquitous mitochondrial
            creatine kinase CKMT1 in breast cancer progression.
REFERENCE   2  (bases 1 to 1579)
  AUTHORS   Zhu,L., Tang,Y., Li,X.Y., Kerk,S.A., Lyssiotis,C.A., Feng,W.,
            Sun,X., Hespe,G.E., Wang,Z., Stemmler,M.P., Brabletz,S.,
            Brabletz,T., Keller,E.T., Ma,J., Cho,J.S., Yang,J. and Weiss,S.J.
  TITLE     A Zeb1/MtCK1 metabolic axis controls osteoclast activation and
            skeletal remodeling
  JOURNAL   EMBO J 42 (7), e111148 (2023)
   PUBMED   36843552
  REMARK    GeneRIF: A Zeb1/MtCK1 metabolic axis controls osteoclast activation
            and skeletal remodeling.
REFERENCE   3  (bases 1 to 1579)
  AUTHORS   Politis-Barber,V., Petrick,H.L., Raajendiran,A., DesOrmeaux,G.J.,
            Brunetta,H.S., Dos Reis,L.M., Mori,M.A., Wright,D.C., Watt,M.J. and
            Holloway,G.P.
  TITLE     Ckmt1 is Dispensable for Mitochondrial Bioenergetics Within
            White/Beige Adipose Tissue
  JOURNAL   Function (Oxf) 3 (5), zqac037 (2022)
   PUBMED   37954502
  REMARK    GeneRIF: Ckmt1 is Dispensable for Mitochondrial Bioenergetics
            Within White/Beige Adipose Tissue.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1579)
  AUTHORS   Yang,M., Liu,S., Xiong,Y., Zhao,J. and Deng,W.
  TITLE     An integrative pan-cancer analysis of molecular characteristics and
            oncogenic role of mitochondrial creatine kinase 1A (CKMT1A) in
            human tumors
  JOURNAL   Sci Rep 12 (1), 10025 (2022)
   PUBMED   35705641
  REMARK    GeneRIF: An integrative pan-cancer analysis of molecular
            characteristics and oncogenic role of mitochondrial creatine kinase
            1A (CKMT1A) in human tumors.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1579)
  AUTHORS   Wang,Y., Zhao,S., Qin,Q., Gao,X., Zhang,X., Zhang,M., Jiang,Y.,
            Ji,X., Zhu,H., Zhao,X. and Li,H.
  TITLE     CKMT1A is a novel potential prognostic biomarker in patients with
            endometrial cancer
  JOURNAL   PLoS One 17 (1), e0262000 (2022)
   PUBMED   35077462
  REMARK    GeneRIF: CKMT1A is a novel potential prognostic biomarker in
            patients with endometrial cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1579)
  AUTHORS   Brdiczka,D., Kaldis,P. and Wallimann,T.
  TITLE     In vitro complex formation between the octamer of mitochondrial
            creatine kinase and porin
  JOURNAL   J Biol Chem 269 (44), 27640-27644 (1994)
   PUBMED   7525559
REFERENCE   7  (bases 1 to 1579)
  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   8  (bases 1 to 1579)
  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]
REFERENCE   9  (bases 1 to 1579)
  AUTHORS   Stallings,R.L., Olson,E., Strauss,A.W., Thompson,L.H.,
            Bachinski,L.L. and Siciliano,M.J.
  TITLE     Human creatine kinase genes on chromosomes 15 and 19, and proximity
            of the gene for the muscle form to the genes for apolipoprotein C2
            and excision repair
  JOURNAL   Am J Hum Genet 43 (2), 144-151 (1988)
   PUBMED   3400641
REFERENCE   10 (bases 1 to 1579)
  AUTHORS   Jacobus,W.E., Moreadith,R.W. and Vandegaer,K.M.
  TITLE     Control of heart oxidative phosphorylation by creatine kinase in
            mitochondrial membranes
  JOURNAL   Ann N Y Acad Sci 414, 73-89 (1983)
   PUBMED   6584077
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011330.8.
            
            On Nov 30, 2019 this sequence version replaced NM_001321926.1.
            
            Summary: Mitochondrial creatine (MtCK) kinase 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. Many malignant cancers with poor prognosis have
            shown overexpression of ubiquitous mitochondrial creatine kinase;
            this may be related to high energy turnover and failure to
            eliminate cancer cells via apoptosis. Ubiquitous mitochondrial
            creatine kinase has 80% homology with the coding exons of
            sarcomeric mitochondrial creatine kinase. Two genes located near
            each other on chromosome 15 have been identified which encode
            identical mitochondrial creatine kinase proteins. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BC006467.1, AK223365.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000413453.7/
                                                  ENSP00000406577.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-341               AC011330.8         162898-163238
            342-540             AC011330.8         163843-164041
            541-636             AC011330.8         164245-164340
            637-858             AC011330.8         164727-164948
            859-944             AC011330.8         165078-165163
            945-1068            AC011330.8         165279-165402
            1069-1203           AC011330.8         167053-167187
            1204-1329           AC011330.8         167680-167805
            1330-1579           AC011330.8         168012-168261
FEATURES             Location/Qualifiers
     source          1..1579
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.3"
     gene            1..1579
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /note="creatine kinase, mitochondrial 1A"
                     /db_xref="GeneID:548596"
                     /db_xref="HGNC:HGNC:31736"
                     /db_xref="MIM:613415"
     exon            1..341
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /inference="alignment:Splign:2.1.0"
     CDS             193..1446
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /EC_number="2.7.3.2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2; creatine kinase, mitochondrial 1 (ubiquitous);
                     creatine kinase U-type, mitochondrial; acidic-type
                     mitochondrial creatine kinase; ubiquitous mitochondrial
                     creatine kinase"
                     /codon_start=1
                     /product="creatine kinase U-type, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_001308855.1"
                     /db_xref="CCDS:CCDS32217.1"
                     /db_xref="GeneID:548596"
                     /db_xref="HGNC:HGNC:31736"
                     /db_xref="MIM:613415"
                     /translation="MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERR
                     RLYPPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFI
                     KTVGMVAGDEETYEVFADLFDPVIQERHNGYDPRTMKHTTDLDASKIRSGYFDERYVL
                     SSRVRTGRSIRGLSLPPACTRAERREVERVVVDALSGLKGDLAGRYYRLSEMTEAEQQ
                     QLIDDHFLFDKPVSPLLTAAGMARDWPDARGIWHNNEKSFLIWVNEEDHTRVISMEKG
                     GNMKRVFERFCRGLKEVERLIQERGWEFMWNERLGYILTCPSNLGTGLRAGVHIKLPL
                     LSKDSRFPKILENLRLQKRGTGGVDTAATGGVFDISNLDRLGKSEVELVQLVIDGVNY
                     LIDCERRLERGQDIRIPTPVIHTKH"
     exon            342..540
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /inference="alignment:Splign:2.1.0"
     exon            541..636
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /inference="alignment:Splign:2.1.0"
     exon            637..858
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /inference="alignment:Splign:2.1.0"
     exon            859..944
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /inference="alignment:Splign:2.1.0"
     exon            945..1068
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1203
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1329
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1579
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1555..1560
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /note="hexamer: AGTAAA"
     polyA_site      1579
                     /gene="CKMT1A"
                     /gene_synonym="CKMT1; mia-CK; U-MtCK"
                     /note="major polyA site"
ORIGIN      
        1 attgcgcctc tcctgcagtc tgattggcac cggctcccat tccggctcca gcctccaatc
       61 cgacccccat ttcggctgca gcctcggacc tagctccggc cctcggtcta tccggttgca
      121 tcctccctcc ctgttccgga tcttatcttg cgccagcgcc tactccagga tcccgtagcc
      181 agacctcaag ccatggctgg tcccttctcc cgtctgctgt ccgcccgccc gggactcagg
      241 ctcctggctt tggccggagc ggggtctcta gccgctgggt ttctgctccg accggaacct
      301 gtacgagctg ccagtgaacg acggaggctg tatcccccga gcgctgagta cccagacctc
      361 cgaaagcaca acaactgcat ggccagtcac ctgaccccag cagtctatgc acggctctgc
      421 gacaagacca cacccactgg ttggacgcta gatcagtgta tccagactgg cgtggacaac
      481 cctggccacc ccttcatcaa gactgtgggc atggtggctg gagatgagga gacctatgag
      541 gtatttgctg acctgtttga ccctgtgatc caagagcgac acaatggata tgacccccgg
      601 acaatgaagc acaccacgga tctagatgcc agtaaaatcc gttctggcta ctttgatgag
      661 aggtatgtat tgtcctctag agtcagaact ggccgaagca tccgaggact cagtctgcct
      721 ccagcttgca ctcgagcaga gcgacgagag gtggaacgtg ttgtggtgga tgcactgagt
      781 ggcctgaagg gtgacctggc tggacgttac tataggctca gtgagatgac agaggctgaa
      841 cagcagcagc ttattgatga ccactttctg tttgataagc ctgtgtcccc gttgctgact
      901 gcagcaggaa tggctcgaga ctggccagat gctcgtggaa tttggcacaa caatgagaag
      961 agcttcctga tctgggtgaa tgaggaggat catacacggg tgatctccat ggagaagggt
     1021 ggtaacatga agagagtgtt tgaaagattc tgccgaggcc tcaaagaggt ggagagactt
     1081 atccaagaac gtggctggga gttcatgtgg aatgagcgtt tgggatacat cttgacctgt
     1141 ccatctaacc tgggcactgg acttcgggca ggagtgcaca tcaaactgcc cctgctaagc
     1201 aaagatagcc gcttcccaaa gatcctggag aacctaagac tccaaaagcg tggtactgga
     1261 ggagtggaca ctgctgccac aggcggtgtc tttgatattt ctaatttgga ccgactaggc
     1321 aaatcagagg tggagctggt gcaactggtc atcgatggag taaactattt gattgattgt
     1381 gaacggcgtc tggagagagg ccaggatatc cgcatcccca cacctgtcat ccacaccaag
     1441 cattaactcc ccatcgccag ctgatgactc aagattccaa ggagttctgc tcattctaat
     1501 gatggcccat tctacttgct ctggacctgc cctcgcatcc cctgcctcca tcctagtaaa
     1561 gactccttgc tatgctgca
//
