LOCUS       NM_001206427             660 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens ATP synthase membrane subunit k (ATP5MK), transcript
            variant 3, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001206427
VERSION     NM_001206427.2
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 660)
  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   2  (bases 1 to 660)
  AUTHORS   Barca,E., Ganetzky,R.D., Potluri,P., Juanola-Falgarona,M., Gai,X.,
            Li,D., Jalas,C., Hirsch,Y., Emmanuele,V., Tadesse,S., Ziosi,M.,
            Akman,H.O., Chung,W.K., Tanji,K., McCormick,E.M., Place,E.,
            Consugar,M., Pierce,E.A., Hakonarson,H., Wallace,D.C., Hirano,M.
            and Falk,M.J.
  TITLE     USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial
            complex V dimerization and ATP synthesis
  JOURNAL   Hum Mol Genet 27 (19), 3305-3312 (2018)
   PUBMED   29917077
REFERENCE   3  (bases 1 to 660)
  AUTHORS   Nagata,Y., Yamagishi,M., Konno,T., Nakanishi,C., Asano,Y., Ito,S.,
            Nakajima,Y., Seguchi,O., Fujino,N., Kawashiri,M.A., Takashima,S.,
            Kitakaze,M. and Hayashi,K.
  TITLE     Heat Failure Phenotypes Induced by Knockdown of DAPIT in Zebrafish:
            A New Insight into Mechanism of Dilated Cardiomyopathy
  JOURNAL   Sci Rep 7 (1), 17417 (2017)
   PUBMED   29234032
  REMARK    GeneRIF: To determine whether USMG5 is related to the development
            of heart failure, authors performed clinical and experimental
            studies. Microarray analysis showed that the expression levels of
            USMG5 were positively correlated with those of natriuretic peptide
            precursor A in the human failed myocardium.
            Erratum:[Sci Rep. 2018 May 14;8(1):7768. doi:
            10.1038/s41598-018-26012-4.. PMID: 29760517]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 660)
  AUTHORS   Fujikawa,M., Sugawara,K., Tanabe,T. and Yoshida,M.
  TITLE     Assembly of human mitochondrial ATP synthase through two separate
            intermediates, F1-c-ring and b-e-g complex
  JOURNAL   FEBS Lett 589 (19 Pt B), 2707-2712 (2015)
   PUBMED   26297831
REFERENCE   5  (bases 1 to 660)
  AUTHORS   Kontro,H., Cannino,G., Rustin,P., Dufour,E. and Kainulainen,H.
  TITLE     DAPIT Over-Expression Modulates Glucose Metabolism and Cell
            Behaviour in HEK293T Cells
  JOURNAL   PLoS One 10 (7), e0131990 (2015)
   PUBMED   26161955
  REMARK    GeneRIF: DAPIT over-expression thus appears to modulate
            mitochondrial functions and alter cellular regulations, promote
            anaerobic metabolism and induce EMT-like transition.
            Erratum:[PLoS One. 2015 Oct 15;10(10):e0141036. doi:
            10.1371/journal.pone.0141036.. PMID: 26469334]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 660)
  AUTHORS   Meyer,B., Wittig,I., Trifilieff,E., Karas,M. and Schagger,H.
  TITLE     Identification of two proteins associated with mammalian ATP
            synthase
  JOURNAL   Mol Cell Proteomics 6 (10), 1690-1699 (2007)
   PUBMED   17575325
REFERENCE   7  (bases 1 to 660)
  AUTHORS   Chen,R., Runswick,M.J., Carroll,J., Fearnley,I.M. and Walker,J.E.
  TITLE     Association of two proteolipids of unknown function with ATP
            synthase from bovine heart mitochondria
  JOURNAL   FEBS Lett 581 (17), 3145-3148 (2007)
   PUBMED   17570365
REFERENCE   8  (bases 1 to 660)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   9  (bases 1 to 660)
  AUTHORS   Ji,D., Cheng,J., Chen,G.F., Liu,Y., Wang,L. and Guo,J.
  TITLE     Study of transactivating effect of pre-S2 protein of hepatitis B
            virus and cloning of genes transactivated by pre-S2 protein with
            suppression subtractive hybridization
  JOURNAL   World J Gastroenterol 11 (35), 5438-5443 (2005)
   PUBMED   16222733
REFERENCE   10 (bases 1 to 660)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DW446355.1, CN367000.1 and AL110185.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001206427.1.
            
            Transcript Variant: This variant (3) has an additional exon in the
            5' UTR and encodes the same protein, compared to variant 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 :: BM549208.1, BU535426.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369815.6/ ENSP00000358830.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                DW446355.1         55-81
            28-654              CN367000.1         12-638
            655-660             AL110185.1         345-350
FEATURES             Location/Qualifiers
     source          1..660
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.33"
     gene            1..660
                     /gene="ATP5MK"
                     /gene_synonym="AGP; ATP5MD; bA792D24.4; DAPIT; HCVFTP2;
                     MC5DN6; USMG5"
                     /note="ATP synthase membrane subunit k"
                     /db_xref="GeneID:84833"
                     /db_xref="HGNC:HGNC:30889"
                     /db_xref="MIM:615204"
     exon            1..67
                     /gene="ATP5MK"
                     /gene_synonym="AGP; ATP5MD; bA792D24.4; DAPIT; HCVFTP2;
                     MC5DN6; USMG5"
                     /inference="alignment:Splign:2.1.0"
     exon            68..354
                     /gene="ATP5MK"
                     /gene_synonym="AGP; ATP5MD; bA792D24.4; DAPIT; HCVFTP2;
                     MC5DN6; USMG5"
                     /inference="alignment:Splign:2.1.0"
     exon            355..450
                     /gene="ATP5MK"
                     /gene_synonym="AGP; ATP5MD; bA792D24.4; DAPIT; HCVFTP2;
                     MC5DN6; USMG5"
                     /inference="alignment:Splign:2.1.0"
     CDS             364..540
                     /gene="ATP5MK"
                     /gene_synonym="AGP; ATP5MD; bA792D24.4; DAPIT; HCVFTP2;
                     MC5DN6; USMG5"
                     /note="up-regulated during skeletal muscle growth protein
                     5; HCV F-transactivated protein 2; upregulated during
                     skeletal muscle growth 5 homolog; diabetes-associated
                     protein in insulin-sensitive tissues; Diabetes Associated
                     Protein in Insulin-sensitive Tissues; up-regulated during
                     skeletal muscle growth 5 homolog; ATP synthase membrane
                     subunit DAPIT, mitochondrial"
                     /codon_start=1
                     /product="ATP synthase membrane subunit K, mitochondrial"
                     /protein_id="NP_001193356.1"
                     /db_xref="CCDS:CCDS7548.1"
                     /db_xref="GeneID:84833"
                     /db_xref="HGNC:HGNC:30889"
                     /db_xref="MIM:615204"
                     /translation="MAGPESDAQYQFTGIKKYFNSYTLTGRMNCVLATYGSIALIVLY
                     FKLRSKKTPAVKAT"
     exon            451..543
                     /gene="ATP5MK"
                     /gene_synonym="AGP; ATP5MD; bA792D24.4; DAPIT; HCVFTP2;
                     MC5DN6; USMG5"
                     /inference="alignment:Splign:2.1.0"
     exon            544..660
                     /gene="ATP5MK"
                     /gene_synonym="AGP; ATP5MD; bA792D24.4; DAPIT; HCVFTP2;
                     MC5DN6; USMG5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      639..644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5MK"
                     /gene_synonym="AGP; ATP5MD; bA792D24.4; DAPIT; HCVFTP2;
                     MC5DN6; USMG5"
                     /note="hexamer: AATAAA"
     polyA_site      660
                     /gene="ATP5MK"
                     /gene_synonym="AGP; ATP5MD; bA792D24.4; DAPIT; HCVFTP2;
                     MC5DN6; USMG5"
                     /note="major polyA site"
ORIGIN      
        1 ccggccgggc cgagaggtgg ttacattcgt tgaaggacac cagctgcgga atttgcggct
       61 ttggcagctg tttgttccca ccgagctgtg ctttaggaag ctggccagcc gggcctcctt
      121 taggtgcgct gcagcctttt tcaaagcgag tgaatgtggc ccggccccta cagttcgcca
      181 ggcccgctgt aaaagggtta gatttcagtc tatagacgat cagtgggaag gcctttccta
      241 ggaggtaacc agaacagaga gctgtaaact ccgtgaatgc aagaggctgc ttctgttacc
      301 tgagtggttc tcactcatct ttgccttcct tacctcgtga tctcaccatt ccagattgaa
      361 atcatggcag gtccagaaag tgatgcgcaa taccagttca ctggtattaa aaaatatttc
      421 aactcttata ctctcacagg tagaatgaac tgtgtactgg ccacatatgg aagcattgca
      481 ttgattgtct tatatttcaa gttaaggtcc aaaaaaactc cagctgtgaa agcaacataa
      541 atggatttta aactgtctac ggttcttaac ctcatctgtt aagttcccat gcctggagaa
      601 gctaatgcca actcatcatg tgataattca atttgtacaa taaattatga acctggaaaa
//
