LOCUS       NM_001256964            1611 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens coiled-coil domain containing 51 (CCDC51), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001256964
VERSION     NM_001256964.2
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 1611)
  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 1611)
  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   3  (bases 1 to 1611)
  AUTHORS   Paggio,A., Checchetto,V., Campo,A., Menabo,R., Di Marco,G., Di
            Lisa,F., Szabo,I., Rizzuto,R. and De Stefani,D.
  TITLE     Identification of an ATP-sensitive potassium channel in
            mitochondria
  JOURNAL   Nature 572 (7771), 609-613 (2019)
   PUBMED   31435016
REFERENCE   4  (bases 1 to 1611)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1611)
  AUTHORS   Wang,C. and Brennan,W.A. Jr.
  TITLE     Rat skeletal muscle, liver and brain have different fetal and adult
            forms of the glucose transporter
  JOURNAL   Biochim Biophys Acta 946 (1), 11-18 (1988)
   PUBMED   3145016
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC134772.2.
            
            On Nov 22, 2018 this sequence version replaced NM_001256964.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.356057.1,
                                           SRR3476690.900146.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395694.7/ ENSP00000379047.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-132               AC134772.2         53666-53797         c
            133-452             AC134772.2         48495-48814         c
            453-617             AC134772.2         47385-47549         c
            618-1611            AC134772.2         45851-46844         c
FEATURES             Location/Qualifiers
     source          1..1611
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1611
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /note="coiled-coil domain containing 51"
                     /db_xref="GeneID:79714"
                     /db_xref="HGNC:HGNC:25714"
                     /db_xref="MIM:618585"
     exon            1..132
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /inference="alignment:Splign:2.1.0"
     exon            133..452
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..1376
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 51; mitochondrial
                     potassium channel"
                     /codon_start=1
                     /product="mitochondrial potassium channel isoform 1"
                     /protein_id="NP_001243893.1"
                     /db_xref="CCDS:CCDS2766.2"
                     /db_xref="GeneID:79714"
                     /db_xref="HGNC:HGNC:25714"
                     /db_xref="MIM:618585"
                     /translation="MMGRSPGFAMQHIVGVPHVLVRRGLLGRDLFMTRTLCSPGPSQP
                     GEKRPEEVALGLHHRLPALGRALGHSIQQRATSTAKTWWDRYEEFVGLNEVREAQGKV
                     TEAEKVFMVARGLVREAREDLEVHQAKLKEVRDRLDRVSREDSQYLELATLEHRMLQE
                     EKRLRTAYLRAEDSEREKFSLFSAAVRESHEKERTRAERTKNWSLIGSVLGALIGVAG
                     STYVNRVRLQELKALLLEAQKGPVSLQEAIREQASSYSRQQRDLHNLMVDLRGLVHAA
                     GPGQDSGSQAGSPPTRDRDVDVLSAALKEQLSHSRQVHSCLEGLREQLDGLEKTCSQM
                     AGVVQLVKSAAHPGLVEPADGAMPSFLLEQGSMILALSDTEQRLEAQVNRNTIYSTLV
                     TCVTFVATLPVLYMLFKAS"
     exon            453..617
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /inference="alignment:Splign:2.1.0"
     exon            618..1611
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1581..1586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /note="hexamer: ATTAAA"
     polyA_site      1611
                     /gene="CCDC51"
                     /gene_synonym="MITOK"
                     /note="major polyA site"
ORIGIN      
        1 agacgattgg tcgggccacg ccaggtacga ggagctaggg ttgtcctgcc agggtagaat
       61 cggaaccgta ggaggggtac ttaaccggac ggcctaccag gcctgtggcc gtgcgcggga
      121 agagcactgc agatctcagg atgatggggc gcagccctgg gtttgccatg cagcacatcg
      181 tgggtgtgcc ccacgtactg gttcggaggg gcctccttgg aagggacctc ttcatgacca
      241 ggactctctg cagcccaggc ccaagccagc ccggagagaa aagacctgag gaggtggccc
      301 tggggctgca ccaccgcctc ccagcactgg gaagagccct ggggcacagc attcagcaac
      361 gagcgacctc cacagccaag acttggtggg acagatatga agagtttgtt ggactcaacg
      421 aggttcgaga ggcccaggga aaggtgacag aggctgagaa agtgttcatg gtggctcgag
      481 ggcttgtccg agaggctcgg gaggacttgg aagttcacca ggccaagctg aaggaggtga
      541 gggaccgctt ggaccgtgtc tccagggagg acagtcagta cttggaactg gctactctcg
      601 agcacaggat gctgcaggag gagaagaggc ttcgcacagc ctatctgcgt gcagaagact
      661 ctgagcgaga gaagttctcc ctcttctctg cagctgtgcg ggaaagtcat gagaaggagc
      721 gcacaagggc tgagaggacc aagaactggt ccctcattgg ctcagtcctg ggggccctga
      781 ttggtgtggc tggctccacc tatgtgaacc gtgtgcgact acaggagctg aaggctttac
      841 tcctggaggc gcagaagggg cctgtgagtc tccaagaggc cattcgagaa caggcgtcta
      901 gctactcccg ccagcagagg gacctccaca atctcatggt ggacctgagg ggcctggtac
      961 atgctgctgg gccagggcag gactctgggt cacaggcagg tagtcccccg accagagaca
     1021 gagatgtaga tgtcctttca gctgccttga aagagcagct tagtcattcc aggcaagtcc
     1081 attcatgtct agaaggctta cgagagcagc ttgatggcct agaaaagact tgtagccaaa
     1141 tggctggggt ggttcagctt gtaaagtctg cagcacaccc aggcctggtg gaaccagcag
     1201 acggggctat gcccagcttc ttgctggagc aggggagcat gatcttggca ctgtcagaca
     1261 cggagcagag actagaagcc caagtcaaca ggaacaccat ctatagcacc ctggtcacct
     1321 gtgtgacatt tgtggccaca ctgcctgtgc tctacatgct attcaaagcc agctaacccc
     1381 tggcccctcc tccagagggt ctgaggcaat agctgtgaat gtggatttaa gtagagaatc
     1441 gtagcaatga agcgagcctt tgggggcatg tacaacctca atctgaagga gcagtatctg
     1501 tgtggctcac cagcaggcat gcttcgcttt gtagacaagg ttcatttaca ttaattatca
     1561 aaactttgtg ctaatgtcca attaaaatat cctgagtttt attatttaaa a
//
