LOCUS       NM_001011700             710 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial coiled-coil domain 1 (MCCD1), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001011700 XM_376486
VERSION     NM_001011700.3
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 710)
  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 710)
  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 710)
  AUTHORS   Tan,J.H., Price,P., Gut,I., Stacey,M.C., Warrington,N.M. and
            Wallace,H.J.
  TITLE     Characterization of tumor necrosis factor-alpha block haplotypes
            associated with susceptibility to chronic venous leg ulcers in
            Caucasian patients
  JOURNAL   Hum Immunol 71 (12), 1214-1219 (2010)
   PUBMED   20854863
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 710)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 710)
  AUTHORS   Limou,S., Le Clerc,S., Coulonges,C., Carpentier,W., Dina,C.,
            Delaneau,O., Labib,T., Taing,L., Sladek,R., Deveau,C.,
            Ratsimandresy,R., Montes,M., Spadoni,J.L., Lelievre,J.D., Levy,Y.,
            Therwath,A., Schachter,F., Matsuda,F., Gut,I., Froguel,P.,
            Delfraissy,J.F., Hercberg,S. and Zagury,J.F.
  CONSRTM   ANRS Genomic Group
  TITLE     Genomewide association study of an AIDS-nonprogression cohort
            emphasizes the role played by HLA genes (ANRS Genomewide
            Association Study 02)
  JOURNAL   J Infect Dis 199 (3), 419-426 (2009)
   PUBMED   19115949
REFERENCE   6  (bases 1 to 710)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   7  (bases 1 to 710)
  AUTHORS   Semple,J.I., Ribas,G., Hillyard,G., Brown,S.E., Sanderson,C.M. and
            Campbell,R.D.
  TITLE     A novel gene encoding a coiled-coil mitochondrial protein located
            at the telomeric end of the human MHC Class III region
  JOURNAL   Gene 314, 41-54 (2003)
   PUBMED   14527716
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BN000141.1, AL663061.8 and AL662801.7.
            
            On Nov 23, 2018 this sequence version replaced NM_001011700.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BN000141.1, BC132994.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 14527716
            MANE Ensembl match                 :: ENST00000376191.3/
                                                  ENSP00000365362.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                BN000141.1         1-37
            38-38               AL663061.8         36670-36670
            39-186              BN000141.1         39-186
            187-187             AL663061.8         36819-36819
            188-406             BN000141.1         188-406
            407-407             AL662801.7         2600-2600
            408-444             BN000141.1         408-444
            445-445             AL662801.7         2638-2638
            446-535             BN000141.1         446-535
            536-536             AL662801.7         2729-2729
            537-709             BN000141.1         537-709
            710-710             AL662801.7         2903-2903
FEATURES             Location/Qualifiers
     source          1..710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..710
                     /gene="MCCD1"
                     /note="mitochondrial coiled-coil domain 1"
                     /db_xref="GeneID:401250"
                     /db_xref="HGNC:HGNC:20668"
                     /db_xref="MIM:609624"
     exon            1..224
                     /gene="MCCD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..413
                     /gene="MCCD1"
                     /note="mitochondrial coiled-coil domain protein 1"
                     /codon_start=1
                     /product="mitochondrial coiled-coil domain protein 1
                     precursor"
                     /protein_id="NP_001011700.2"
                     /db_xref="CCDS:CCDS34396.1"
                     /db_xref="GeneID:401250"
                     /db_xref="HGNC:HGNC:20668"
                     /db_xref="MIM:609624"
                     /translation="MVLPLPWLSRYHFLRLLLPSWSLAPQGSHGCCSQNPKASMEEQT
                     SSRGNGKMTSPPRGPGTHRTAELARAEELLEQQLELYQALLEGQEGAWEAQALVLKIQ
                     KLKEQMRRHQESLGGGA"
     exon            225..710
                     /gene="MCCD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      679..684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCCD1"
                     /note="hexamer: AATAAA"
     polyA_site      710
                     /gene="MCCD1"
                     /note="major polyA site"
ORIGIN      
        1 agttcctggt ggccgttgga cagctcacac agctccctgc caggtcaccc gccatggtcc
       61 tccctctgcc ctggctctct cggtaccatt tccttcgcct ccttctgccc tcctggtcct
      121 tggcacccca gggctcccat gggtgctgct cccaaaaccc caaagcaagc atggaagagc
      181 agaccagctc cagaggaaat gggaagatga cgtcccctcc caggggccct gggacccacc
      241 gcacagctga gctggcccga gctgaagagt tgttggagca gcagctggag ctgtaccagg
      301 ccctccttga agggcaggag ggagcctggg aggcccaagc cctggtgctc aagatccaga
      361 agctgaagga acagatgagg aggcaccaag agagccttgg aggaggcgcc taagtttccc
      421 ccagtgccca cagcaccctc cggcgctgaa aatacacgca ccacccacca ggagccttgg
      481 gatcataaac accccagcgt cttcccaggc cagagaaagt ggaagagacc acaaagcgca
      541 ggcaattggc aggcagtggg ggagccaggg ctctgcagtc ttagtcccat tcccctttga
      601 tctcacagca ggcagggcac ccaggcctta taggaattca ccctggacca tgccctaaaa
      661 taacctcacc ccaaatacaa taaagggacg aagcacttat agataccaca
//
