LOCUS       NM_001686               1759 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens ATP synthase F1 subunit beta (ATP5F1B), mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_001686
VERSION     NM_001686.4
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 1759)
  AUTHORS   Nasca,A., Mencacci,N.E., Invernizzi,F., Zech,M., Keller
            Sarmiento,I.J., Legati,A., Frascarelli,C., Bustos,B.I.,
            Romito,L.M., Krainc,D., Winkelmann,J., Carecchio,M., Nardocci,N.,
            Zorzi,G., Prokisch,H., Lubbe,S.J., Garavaglia,B. and Ghezzi,D.
  TITLE     Variants in ATP5F1B are associated with dominantly inherited
            dystonia
  JOURNAL   Brain 146 (7), 2730-2738 (2023)
   PUBMED   36860166
  REMARK    GeneRIF: Variants in ATP5F1B are associated with dominantly
            inherited dystonia.
REFERENCE   2  (bases 1 to 1759)
  AUTHORS   Lai,Y., Zhang,Y., Zhou,S., Xu,J., Du,Z., Feng,Z., Yu,L., Zhao,Z.,
            Wang,W., Tang,Y., Yang,X., Guddat,L.W., Liu,F., Gao,Y., Rao,Z. and
            Gong,H.
  TITLE     Structure of the human ATP synthase
  JOURNAL   Mol Cell 83 (12), 2137-2147 (2023)
   PUBMED   37244256
REFERENCE   3  (bases 1 to 1759)
  AUTHORS   Ganetzky,R.D., Markhard,A.L., Yee,I., Clever,S., Cahill,A.,
            Shah,H., Grabarek,Z., To,T.L. and Mootha,V.K.
  TITLE     Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation
  JOURNAL   N Engl J Med 387 (15), 1395-1403 (2022)
   PUBMED   36239646
  REMARK    GeneRIF: Congenital Hypermetabolism and Uncoupled Oxidative
            Phosphorylation.
REFERENCE   4  (bases 1 to 1759)
  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   5  (bases 1 to 1759)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 1759)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   7  (bases 1 to 1759)
  AUTHORS   Neckelmann,N., Warner,C.K., Chung,A., Kudoh,J., Minoshima,S.,
            Fukuyama,R., Maekawa,M., Shimizu,Y., Shimizu,N., Liu,J.D. et al.
  TITLE     The human ATP synthase beta subunit gene: sequence analysis,
            chromosome assignment, and differential expression
  JOURNAL   Genomics 5 (4), 829-843 (1989)
   PUBMED   2687158
REFERENCE   8  (bases 1 to 1759)
  AUTHORS   Ohta,S., Tomura,H., Matsuda,K. and Kagawa,Y.
  TITLE     Gene structure of the human mitochondrial adenosine triphosphate
            synthase beta subunit
  JOURNAL   J Biol Chem 263 (23), 11257-11262 (1988)
   PUBMED   2900241
REFERENCE   9  (bases 1 to 1759)
  AUTHORS   Wallace,D.C., Ye,J.H., Neckelmann,S.N., Singh,G., Webster,K.A. and
            Greenberg,B.D.
  TITLE     Sequence analysis of cDNAs for the human and bovine ATP synthase
            beta subunit: mitochondrial DNA genes sustain seventeen times more
            mutations
  JOURNAL   Curr Genet 12 (2), 81-90 (1987)
   PUBMED   2896550
REFERENCE   10 (bases 1 to 1759)
  AUTHORS   Ohta,S. and Kagawa,Y.
  TITLE     Human F1-ATPase: molecular cloning of cDNA for the beta subunit
  JOURNAL   J Biochem 99 (1), 135-141 (1986)
   PUBMED   2870059
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI561028.1 and BC016512.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001686.3.
            
            Summary: This gene encodes a subunit of mitochondrial ATP synthase.
            Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an
            electrochemical gradient of protons across the inner membrane
            during oxidative phosphorylation. ATP synthase is composed of two
            linked multi-subunit complexes: the soluble catalytic core, F1, and
            the membrane-spanning component, Fo, comprising the proton channel.
            The catalytic portion of mitochondrial ATP synthase consists of 5
            different subunits (alpha, beta, gamma, delta, and epsilon)
            assembled with a stoichiometry of 3 alpha, 3 beta, and a single
            representative of the other 3. The proton channel consists of three
            main subunits (a, b, c). This gene encodes the beta subunit of the
            catalytic core. [provided by RefSeq, Jul 2008].
            
            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 :: FJ224288.1, SRR3476690.1007849.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000262030.8/
                                                  ENSP00000262030.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BI561028.1         102-112
            12-1759             BC016512.1         1-1748
FEATURES             Location/Qualifiers
     source          1..1759
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..1759
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /note="ATP synthase F1 subunit beta"
                     /db_xref="GeneID:506"
                     /db_xref="HGNC:HGNC:830"
                     /db_xref="MIM:102910"
     exon            1..148
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1611
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /EC_number="7.1.2.2"
                     /note="mitochondrial ATP synthetase, beta subunit; ATP
                     synthase subunit beta, mitochondrial; epididymis secretory
                     protein Li 271; mitochondrial ATP synthase beta subunit;
                     ATP synthase, H+ transporting, mitochondrial F1 complex,
                     beta polypeptide"
                     /codon_start=1
                     /product="ATP synthase subunit beta, mitochondrial
                     precursor"
                     /protein_id="NP_001677.2"
                     /db_xref="CCDS:CCDS8924.1"
                     /db_xref="GeneID:506"
                     /db_xref="HGNC:HGNC:830"
                     /db_xref="MIM:102910"
                     /translation="MLGFVGRVAAAPASGALRRLTPSASLPPAQLLLRAAPTAVHPVR
                     DYAAQTSPSPKAGAATGRIVAVIGAVVDVQFDEGLPPILNALEVQGRETRLVLEVAQH
                     LGESTVRTIAMDGTEGLVRGQKVLDSGAPIKIPVGPETLGRIMNVIGEPIDERGPIKT
                     KQFAPIHAEAPEFMEMSVEQEILVTGIKVVDLLAPYAKGGKIGLFGGAGVGKTVLIME
                     LINNVAKAHGGYSVFAGVGERTREGNDLYHEMIESGVINLKDATSKVALVYGQMNEPP
                     GARARVALTGLTVAEYFRDQEGQDVLLFIDNIFRFTQAGSEVSALLGRIPSAVGYQPT
                     LATDMGTMQERITTTKKGSITSVQAIYVPADDLTDPAPATTFAHLDATTVLSRAIAEL
                     GIYPAVDPLDSTSRIMDPNIVGSEHYDVARGVQKILQDYKSLQDIIAILGMDELSEED
                     KLTVSRARKIQRFLSQPFQVAEVFTGHMGKLVPLKETIKGFQQILAGEYDHLPEQAFY
                     MVGPIEEAVAKADKLAEEHSS"
     exon            149..331
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     exon            332..506
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     exon            507..628
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     exon            629..813
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     exon            814..972
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1095
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1308
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1510
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1759
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1737..1742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /note="hexamer: AATAAA"
     polyA_site      1759
                     /gene="ATP5F1B"
                     /gene_synonym="ATP5B; ATPMB; ATPSB; HEL-S-271; HUMOP2"
                     /note="major polyA site"
ORIGIN      
        1 agtctccacc cggactacgc catgttgggg tttgtgggtc gggtggccgc tgctccggcc
       61 tccggggcct tgcggagact caccccttca gcgtcgctgc ccccagctca gctcttactg
      121 cgggccgctc cgacggcggt ccatcctgtc agggactatg cggcgcaaac atctccttcg
      181 ccaaaagcag gcgccgccac cgggcgcatc gtggcggtca ttggcgcagt ggtggacgtc
      241 cagtttgatg agggactacc accaattcta aatgccctgg aagtgcaagg cagggagacc
      301 agactggttt tggaggtggc ccagcatttg ggtgagagca cagtaaggac tattgctatg
      361 gatggtacag aaggcttggt tagaggccag aaagtactgg attctggtgc accaatcaaa
      421 attcctgttg gtcctgagac tttgggcaga atcatgaatg tcattggaga acctattgat
      481 gaaagaggtc ccatcaaaac caaacaattt gctcccattc atgctgaggc tccagagttc
      541 atggaaatga gtgttgagca ggaaattctg gtgactggta tcaaggttgt cgatctgcta
      601 gctccctatg ccaagggtgg caaaattggg ctttttggtg gtgctggagt tggcaagact
      661 gtactgatca tggagttaat caacaatgtc gccaaagccc atggtggtta ctctgtgttt
      721 gctggtgttg gtgagaggac ccgtgaaggc aatgatttat accatgaaat gattgaatct
      781 ggtgttatca acttaaaaga tgccacctct aaggtagcgc tggtatatgg tcaaatgaat
      841 gaaccacctg gtgctcgtgc ccgggtagct ctgactgggc tgactgtggc tgaatacttc
      901 agagaccaag aaggtcaaga tgtactgcta tttattgata acatctttcg cttcacccag
      961 gctggttcag aggtgtctgc attattgggc cgaatccctt ctgctgtggg ctatcagcct
     1021 accctggcca ctgacatggg tactatgcag gaaagaatta ccactaccaa gaagggatct
     1081 atcacctctg tacaggctat ctatgtgcct gctgatgact tgactgaccc tgcccctgct
     1141 actacgtttg cccatttgga tgctaccact gtactgtcgc gtgccattgc tgagctgggc
     1201 atctatccag ctgtggatcc tctagactcc acctctcgta tcatggatcc caacattgtt
     1261 ggcagtgagc attacgatgt tgcccgtggg gtgcaaaaga tcctgcagga ctacaaatcc
     1321 ctccaggata tcattgccat cctgggtatg gatgaacttt ctgaggaaga caagttgacc
     1381 gtgtcccgtg cacggaaaat acagcgtttc ttgtctcagc cattccaggt tgctgaggtc
     1441 ttcacaggtc atatggggaa gctggtaccc ctgaaggaga ccatcaaagg attccagcag
     1501 attttggcag gtgaatatga ccatctccca gaacaggcct tctatatggt gggacccatt
     1561 gaagaagctg tggcaaaagc tgataagctg gctgaagagc attcatcgtg aggggtcttt
     1621 gtcctctgta ctgtctctct ccttgcccct aacccaaaaa gcttcatttt tctgtgtagg
     1681 ctgcacaaga gccttgattg aagatatatt ctttctgaac agtatttaag gtttccaata
     1741 aaatgtacac ccctcagaa
//
