LOCUS       NM_018035               1700 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens distal membrane arm assembly component 2 (DMAC2),
            transcript variant 4, mRNA.
ACCESSION   NM_018035
VERSION     NM_018035.3
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 1700)
  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 1700)
  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 1700)
  AUTHORS   Stroud,D.A., Surgenor,E.E., Formosa,L.E., Reljic,B., Frazier,A.E.,
            Dibley,M.G., Osellame,L.D., Stait,T., Beilharz,T.H., Thorburn,D.R.,
            Salim,A. and Ryan,M.T.
  TITLE     Accessory subunits are integral for assembly and function of human
            mitochondrial complex I
  JOURNAL   Nature 538 (7623), 123-126 (2016)
   PUBMED   27626371
REFERENCE   4  (bases 1 to 1700)
  AUTHORS   Amin Al Olama,A., Kote-Jarai,Z., Schumacher,F.R., Wiklund,F.,
            Berndt,S.I., Benlloch,S., Giles,G.G., Severi,G., Neal,D.E.,
            Hamdy,F.C., Donovan,J.L., Hunter,D.J., Henderson,B.E., Thun,M.J.,
            Gaziano,M., Giovannucci,E.L., Siddiq,A., Travis,R.C., Cox,D.G.,
            Canzian,F., Riboli,E., Key,T.J., Andriole,G., Albanes,D.,
            Hayes,R.B., Schleutker,J., Auvinen,A., Tammela,T.L., Weischer,M.,
            Stanford,J.L., Ostrander,E.A., Cybulski,C., Lubinski,J.,
            Thibodeau,S.N., Schaid,D.J., Sorensen,K.D., Batra,J.,
            Clements,J.A., Chambers,S., Aitken,J., Gardiner,R.A., Maier,C.,
            Vogel,W., Dork,T., Brenner,H., Habuchi,T., Ingles,S., John,E.M.,
            Dickinson,J.L., Cannon-Albright,L., Teixeira,M.R., Kaneva,R.,
            Zhang,H.W., Lu,Y.J., Park,J.Y., Cooney,K.A., Muir,K.R.,
            Leongamornlert,D.A., Saunders,E., Tymrakiewicz,M., Mahmud,N.,
            Guy,M., Govindasami,K., O'Brien,L.T., Wilkinson,R.A., Hall,A.L.,
            Sawyer,E.J., Dadaev,T., Morrison,J., Dearnaley,D.P., Horwich,A.,
            Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N., Woodhouse,C.J.,
            Thompson,A., Dudderidge,T., Ogden,C., Cooper,C.S., Lophatonanon,A.,
            Southey,M.C., Hopper,J.L., English,D., Virtamo,J., Le Marchand,L.,
            Campa,D., Kaaks,R., Lindstrom,S., Diver,W.R., Gapstur,S.,
            Yeager,M., Cox,A., Stern,M.C., Corral,R., Aly,M., Isaacs,W.,
            Adolfsson,J., Xu,J., Zheng,S.L., Wahlfors,T., Taari,K., Kujala,P.,
            Klarskov,P., Nordestgaard,B.G., Roder,M.A., Frikke-Schmidt,R.,
            Bojesen,S.E., FitzGerald,L.M., Kolb,S., Kwon,E.M., Karyadi,D.M.,
            Orntoft,T.F., Borre,M., Rinckleb,A., Luedeke,M., Herkommer,K.,
            Meyer,A., Serth,J., Marthick,J.R., Patterson,B., Wokolorczyk,D.,
            Spurdle,A., Lose,F., McDonnell,S.K., Joshi,A.D., Shahabi,A.,
            Pinto,P., Santos,J., Ray,A., Sellers,T.A., Lin,H.Y.,
            Stephenson,R.A., Teerlink,C., Muller,H., Rothenbacher,D.,
            Tsuchiya,N., Narita,S., Cao,G.W., Slavov,C., Mitev,V., Chanock,S.,
            Gronberg,H., Haiman,C.A., Kraft,P., Easton,D.F. and Eeles,R.A.
  CONSRTM   UK Genetic Prostate Cancer Study Collaborators/British Association
            of Urological Surgeons' Section of Oncology; UK ProtecT Study
            Collaborators; Australian Prostate Cancer Bioresource; PRACTICAL
            Consortium
  TITLE     A meta-analysis of genome-wide association studies to identify
            prostate cancer susceptibility loci associated with aggressive and
            non-aggressive disease
  JOURNAL   Hum Mol Genet 22 (2), 408-415 (2013)
   PUBMED   23065704
REFERENCE   5  (bases 1 to 1700)
  AUTHORS   Alkelai,A., Lupoli,S., Greenbaum,L., Kohn,Y., Kanyas-Sarner,K.,
            Ben-Asher,E., Lancet,D., Macciardi,F. and Lerer,B.
  TITLE     DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the
            Jewish population
  JOURNAL   Int J Neuropsychopharmacol 15 (4), 459-469 (2012)
   PUBMED   21682944
  REMARK    Erratum:[Int J Neuropsychopharmacol. 2012 May;15(4):541]
REFERENCE   6  (bases 1 to 1700)
  AUTHORS   Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N.,
            Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S.,
            Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V.,
            Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J.,
            Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon
            Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J.,
            Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C.,
            Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C.,
            Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M.,
            Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L.,
            Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z.,
            Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R.,
            Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J.,
            Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R.,
            Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T.,
            Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L.,
            Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani
            Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T.,
            Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B.,
            Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S.,
            Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R.,
            Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C.,
            Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L.,
            De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R.,
            Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S.,
            Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W.,
            Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M.,
            Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L.,
            Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G.,
            Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I.,
            Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I.,
            Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H.,
            Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H.,
            Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H.,
            Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van
            Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P.,
            Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M.,
            Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V.,
            Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L.,
            Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr.,
            Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A.,
            Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S.,
            Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J.,
            Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M.,
            Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P.,
            Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C.,
            Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M.,
            Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A.,
            Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A.,
            Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B.,
            Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H.,
            Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I.,
            Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F.,
            Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A.,
            North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J.,
            O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van
            Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L.,
            Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J.,
            Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M.,
            Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   7  (bases 1 to 1700)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA075924.1, AK001103.1, AC011526.7 and BC013323.1.
            
            On Jun 2, 2019 this sequence version replaced NM_018035.2.
            
            Transcript Variant: This variant (4) contains an alternate in-frame
            exon in the 5' coding region compared to variant 1. The encoded
            isoform (4) is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.1300.1,
                                           SRR3476690.904116.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221943.14/ ENSP00000221943.8
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 DA075924.1         27-33
            8-113               AK001103.1         1-106
            114-114             AC011526.7         20556-20556
            115-488             AK001103.1         108-481
            489-489             AC011526.7         25496-25496
            490-1330            AK001103.1         483-1323
            1331-1331           AC011526.7         27201-27201
            1332-1699           AK001103.1         1325-1692
            1700-1700           BC013323.1         1458-1458
FEATURES             Location/Qualifiers
     source          1..1700
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1700
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /note="distal membrane arm assembly component 2"
                     /db_xref="GeneID:55101"
                     /db_xref="HGNC:HGNC:25496"
                     /db_xref="MIM:617262"
     exon            1..31
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..787
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /note="isoform 4 is encoded by transcript variant 4; ATP
                     synthase subunit s-like protein; ATP5S like; distal
                     membrane-arm assembly complex protein 2; distal membrane
                     arm assembly complex 2"
                     /codon_start=1
                     /product="distal membrane-arm assembly complex protein 2
                     isoform 4"
                     /protein_id="NP_060505.2"
                     /db_xref="CCDS:CCDS33032.1"
                     /db_xref="GeneID:55101"
                     /db_xref="HGNC:HGNC:25496"
                     /db_xref="MIM:617262"
                     /translation="MAAPWASLRLVAPMWNGRIRGIHRLGAAVAPEGNQKKKRTILQF
                     LTNYFYDVEALRDYLLQREMYKVHEKNRSYTWLEKQHGPYGAGAFFILKQGGAVKFRD
                     KEWIRPDKYGHFSQEFWNFCEVPVEAVDAGDCDINYEGLDNLLRLKELQSLSLQRCCH
                     VDDWCLSRLYPLADSLQELSLAGCPRISERGLACLHHLQNLRRLDISDLPAVSNPGLT
                     QILVEEMLPNCEVVGVDWAEGLKSGPEEQPRDTASPVPA"
     exon            32..228
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /inference="alignment:Splign:2.1.0"
     exon            229..309
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /inference="alignment:Splign:2.1.0"
     exon            310..446
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /inference="alignment:Splign:2.1.0"
     exon            447..609
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /inference="alignment:Splign:2.1.0"
     exon            610..1700
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1677..1682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /note="hexamer: ATTAAA"
     polyA_site      1700
                     /gene="DMAC2"
                     /gene_synonym="ATP5SL"
                     /note="major polyA site"
ORIGIN      
        1 aaaccttagc aagatggcgg ctccctgggc gtccctgcgc ctggtcgccc ccatgtggaa
       61 tgggcgtatc aggggcatcc atcgcctggg tgcggcagtg gccccagagg gcaatcagaa
      121 gaagaaaagg acaatactcc agttcctgac caactatttc tacgatgtgg aggctctgag
      181 ggattacttg ctccaaaggg agatgtacaa ggtgcatgag aaaaatcgat cttacacctg
      241 gctggagaag caacatggtc catacggcgc aggtgccttt ttcatcctga agcagggagg
      301 cgcagtcaag tttcgagaca aggagtggat caggccagat aagtatggcc atttctctca
      361 ggagttctgg aatttctgtg aagtgcctgt cgaagctgtg gatgccggtg actgtgacat
      421 caactacgag ggcctggata acctcctccg cctgaaggag ctccagtcct tgtcgctgca
      481 gcgctgctgc cacgtggacg actggtgtct cagccgcctc tacccactgg ccgactcgtt
      541 gcaggagctc tcgctggccg gttgcccccg catctccgaa cggggcctcg cctgcctcca
      601 ccacctccag aacctccgca ggctggacat ctcggacctc cctgccgtgt ccaaccctgg
      661 cctcactcag atattggtgg aggagatgct gcccaattgc gaggttgtgg gagtcgactg
      721 ggctgagggc ctgaagtcag ggccggagga gcagcctcgg gacacagcca gccctgtccc
      781 tgcctagcct ttagccctgt ccccactcac gtggcttctc agcgggctgc atggaatgtc
      841 tggtagctca ccacacttct ggcttccatt tgtcttcact caacgtcagg gtgggggagt
      901 ggtgctggcc aatcacagga gagagcgtga gttcccagta tttattcctg gctgcccttg
      961 gctaaaggtc acagctcctg tcaccctgtc aggcagccct ttccatgccc ctgttcaggc
     1021 ctggggaggt aaaggctcag gctgttagta gccgcagaga gccacactca ccttgtcagg
     1081 agactcttct caaactgtcc ttatgtgagt gcactgccat ttcttgcagg gaccctgact
     1141 gacacagggg ctactactga cactttacag ggatggttct cccccgtgca gggccgctgt
     1201 gcccactgca ggacatgcag catccttcgc cccactccac tcactaaagg ccagcgcacc
     1261 ccaggcccca tagtattgct ggttatggat ttattgactt tatgttccaa attcagcttt
     1321 ttcagttggc tgttttttga aaggggataa gctttgtcag tagagggcac caaacaggca
     1381 ttataggagg aaaggcgcct ccttcgtggt tcttgttggt tgtgcttctg cctctggacg
     1441 ccgcagtgca tgtggcttcc ccagcaccca gctcctgaag caccaggcgg tcagcagctg
     1501 cccttggcac cctccagccc tcagaagttg cgtaggagac acagcgcctc cactgaggca
     1561 cctctctggg aataacgttc cccagcaccc caaatggatt tccagtcaat tcagaagcat
     1621 tttaccagtg aagccctcat tattccagtt cactgttaaa gccagtaatt ctctatatta
     1681 aactttccct gttcaagtta
//
