LOCUS       NM_145691               1553 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ATP synthase mitochondrial F1 complex assembly factor
            2 (ATPAF2), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_145691
VERSION     NM_145691.4
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 1553)
  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 1553)
  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   3  (bases 1 to 1553)
  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   4  (bases 1 to 1553)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1553)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 1553)
  AUTHORS   Meulemans,A., Seneca,S., Pribyl,T., Smet,J., Alderweirldt,V.,
            Waeytens,A., Lissens,W., Van Coster,R., De Meirleir,L., di
            Rago,J.P., Gatti,D.L. and Ackerman,S.H.
  TITLE     Defining the pathogenesis of the human Atp12p W94R mutation using a
            Saccharomyces cerevisiae yeast model
  JOURNAL   J Biol Chem 285 (6), 4099-4109 (2010)
   PUBMED   19933271
  REMARK    GeneRIF: Data show that wild type human Atp12p rescues the
            respiratory defect of a yeast ATP12 deletion mutant (Deltaatp12).
REFERENCE   7  (bases 1 to 1553)
  AUTHORS   De Meirleir,L., Seneca,S., Lissens,W., De Clercq,I., Eyskens,F.,
            Gerlo,E., Smet,J. and Van Coster,R.
  TITLE     Respiratory chain complex V deficiency due to a mutation in the
            assembly gene ATP12
  JOURNAL   J Med Genet 41 (2), 120-124 (2004)
   PUBMED   14757859
REFERENCE   8  (bases 1 to 1553)
  AUTHORS   Bi,W., Yan,J., Stankiewicz,P., Park,S.S., Walz,K., Boerkoel,C.F.,
            Potocki,L., Shaffer,L.G., Devriendt,K., Nowaczyk,M.J., Inoue,K. and
            Lupski,J.R.
  TITLE     Genes in a refined Smith-Magenis syndrome critical deletion
            interval on chromosome 17p11.2 and the syntenic region of the mouse
  JOURNAL   Genome Res 12 (5), 713-728 (2002)
   PUBMED   11997338
REFERENCE   9  (bases 1 to 1553)
  AUTHORS   Wang,Z.G., White,P.S. and Ackerman,S.H.
  TITLE     Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human
            mitochondria
  JOURNAL   J Biol Chem 276 (33), 30773-30778 (2001)
   PUBMED   11410595
REFERENCE   10 (bases 1 to 1553)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087163.10, BC004114.2,
            AA760883.1 and AI857387.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_145691.3.
            
            Summary: This gene encodes an assembly factor for the F(1)
            component of the mitochondrial ATP synthase. This protein binds
            specifically to the F1 alpha subunit and is thought to prevent this
            subunit from forming nonproductive homooligomers during enzyme
            assembly. This gene is located within the Smith-Magenis syndrome
            region on chromosome 17. An alternatively spliced transcript
            variant has been described, but its biological validity has not
            been determined. [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 :: SRR3476690.75421.1,
                                           SRR5189655.95322.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000474627.8/
                                                  ENSP00000417190.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC087163.10        166-167
            3-1309              BC004114.2         1-1307
            1310-1497           AA760883.1         75-262              c
            1498-1551           AI857387.1         1-54                c
            1552-1553           AA760883.1         19-20               c
FEATURES             Location/Qualifiers
     source          1..1553
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..1553
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /note="ATP synthase mitochondrial F1 complex assembly
                     factor 2"
                     /db_xref="GeneID:91647"
                     /db_xref="HGNC:HGNC:18802"
                     /db_xref="MIM:608918"
     exon            1..288
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..1025
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /note="ATP12 homolog"
                     /codon_start=1
                     /product="ATP synthase mitochondrial F1 complex assembly
                     factor 2"
                     /protein_id="NP_663729.1"
                     /db_xref="CCDS:CCDS32585.1"
                     /db_xref="GeneID:91647"
                     /db_xref="HGNC:HGNC:18802"
                     /db_xref="MIM:608918"
                     /translation="MWRSCLRLRDGGRRLLNRPAGGPSASMSPGPTIPSPARAYAPPT
                     ERKRFYQNVSITQGEGGFEINLDHRKLKTPQAKLFTVPSEALAIAVATEWDSQQDTIK
                     YYTMHLTTLCNTSLDNPTQRNKDQLIRAAVKFLDTDTICYRVEEPETLVELQRNEWDP
                     IIEWAEKRYGVEISSSTSIMGPSIPAKTREVLVSHLASYNTWALQGIEFVAAQLKSMV
                     LTLGLIDLRLTVEQAVLLSRLEEEYQIQKWGNIEWAHDYELQELRARTAAGTLFIHLC
                     SESTTVKHKLLKE"
     exon            289..333
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /inference="alignment:Splign:2.1.0"
     exon            334..479
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /inference="alignment:Splign:2.1.0"
     exon            480..577
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /inference="alignment:Splign:2.1.0"
     exon            578..658
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /inference="alignment:Splign:2.1.0"
     exon            659..771
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /inference="alignment:Splign:2.1.0"
     exon            772..887
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1553
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1288..1293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /note="hexamer: ATTAAA"
     polyA_site      1312
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
                     /note="major polyA site"
     polyA_site      1553
                     /gene="ATPAF2"
                     /gene_synonym="ATP12; ATP12p; LP3663; MC5DN1"
ORIGIN      
        1 atgcggaaga tggcggcgtc caagggaggt tgagggctct gaggaggcgt tgagaggttt
       61 ccgtacagcc cgaccgtgcg gctttgggga tcccatcgct ctgtgtttcc tgctccaggt
      121 ttcgcgtctc gcatcttccc agaccctcgg gcgcgatgtg gaggagctgc ctccggctgc
      181 gggacggggg acgccgtctc ctgaatcggc cggcgggtgg ccccagcgct tctatgagtc
      241 cggggccaac catcccgtct ccagcccggg cttacgcccc gccgacagaa aggaagaggt
      301 tttatcagaa tgtcagcatc acacagggtg aaggtggctt tgagataaac ctggaccaca
      361 ggaagctgaa aactccccaa gccaagctct ttaccgtccc cagcgaggcc ctggccattg
      421 cagtggctac tgagtgggat tcccagcagg ataccatcaa gtactacacc atgcacctga
      481 ccacattgtg caacacatca ttggacaacc caacccagag aaacaaggat cagctgatcc
      541 gggcagccgt gaagtttctg gacaccgaca ccatctgcta cagggtggag gagcccgaga
      601 cattagtgga acttcaaagg aatgagtggg atccaatcat cgaatgggct gagaaaagat
      661 acggcgtgga gatcagctcc tccaccagca taatgggacc cagcatccct gccaaaactc
      721 gggaggtgct cgtcagccac ctggcatctt acaacacatg ggctttacaa gggattgagt
      781 ttgtagctgc ccagctcaag tccatggtgc taaccttggg cctgattgac ctgcgcctga
      841 cagtggagca ggccgtgctg ctgtcacgcc tggaggagga gtaccagatc cagaagtggg
      901 gcaacattga gtgggcccat gactatgagc tgcaggagct gcgggcccgc accgccgccg
      961 gcaccctctt catccatctc tgctccgaga gcaccacagt caagcacaag ctcctgaagg
     1021 agtgaggcct gggcagagca cactcagcag gatagaggca gtgcagccac agctcccccg
     1081 gccttcaggg ctccccagcc tgtggggctg gcttccttgg cttttgggga ctcggcctca
     1141 gcgtcaccct gagattcccc ccgagacaca gtgcgctagt acggctgtcc ggaggtcagc
     1201 ctgatttcaa cccaggtgcc cctggcctgg ccagcagtga atgtaggaga tgaattgtgc
     1261 aagtgacttt ctctcgactc tgattttatt aaatatttct ccaccctgga aatgtgctga
     1321 gccctgtttt cacgtatgcc tctgcacttc tccattcttc ctgttttgtc taggttccag
     1381 agggttaaac agcttatctc ccatggcgtg tttggatatc tgctgcctgt ggtcaggaac
     1441 cttgcactgg ggaaacaatc atgtaatcca cagacaactc tatttgtgtt cttcagcctc
     1501 agcctgaagg cttttttttg gctggctttt aatcaaacaa tcttttgaaa caa
//
