LOCUS       NM_001394565            4068 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens ATP synthase mitochondrial F1 complex assembly factor
            1 (ATPAF1), transcript variant 5, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001394565
VERSION     NM_001394565.1
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 4068)
  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 4068)
  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 4068)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 4068)
  AUTHORS   Schauberger,E.M., Ewart,S.L., Arshad,S.H., Huebner,M., Karmaus,W.,
            Holloway,J.W., Friderici,K.H., Ziegler,J.T., Zhang,H.,
            Rose-Zerilli,M.J., Barton,S.J., Holgate,S.T., Kilpatrick,J.R.,
            Harley,J.B., Lajoie-Kadoch,S., Harley,I.T., Hamid,Q.,
            Kurukulaaratchy,R.J., Seibold,M.A., Avila,P.C.,
            Rodriguez-Cintron,W., Rodriguez-Santana,J.R., Hu,D., Gignoux,C.,
            Romieu,I., London,S.J., Burchard,E.G., Langefeld,C.D. and
            Wills-Karp,M.
  TITLE     Identification of ATPAF1 as a novel candidate gene for asthma in
            children
  JOURNAL   J Allergy Clin Immunol 128 (4), 753-760 (2011)
   PUBMED   21696813
  REMARK    GeneRIF: Asthma was found to be associated with a cluster of SNPs
            and SNP haplotypes containing the ATPAF1 gene
REFERENCE   5  (bases 1 to 4068)
  AUTHORS   Saito,K., Adachi,N., Koyama,H. and Matsushita,M.
  TITLE     OGFOD1, a member of the 2-oxoglutarate and iron dependent
            dioxygenase family, functions in ischemic signaling
  JOURNAL   FEBS Lett 584 (15), 3340-3347 (2010)
   PUBMED   20579638
REFERENCE   6  (bases 1 to 4068)
  AUTHORS   Pickova,A., Potocky,M. and Houstek,J.
  TITLE     Assembly factors of F1FO-ATP synthase across genomes
  JOURNAL   Proteins 59 (3), 393-402 (2005)
   PUBMED   15789402
REFERENCE   7  (bases 1 to 4068)
  AUTHORS   Pickova,A., Paul,J., Petruzzella,V. and Houstek,J.
  TITLE     Differential expression of ATPAF1 and ATPAF2 genes encoding
            F(1)-ATPase assembly proteins in mouse tissues
  JOURNAL   FEBS Lett 551 (1-3), 42-46 (2003)
   PUBMED   12965202
REFERENCE   8  (bases 1 to 4068)
  AUTHORS   Ackerman,S.H.
  TITLE     Atp11p and Atp12p are chaperones for F(1)-ATPase biogenesis in
            mitochondria
  JOURNAL   Biochim Biophys Acta 1555 (1-3), 101-105 (2002)
   PUBMED   12206899
REFERENCE   9  (bases 1 to 4068)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL593856.8 and AL136373.21.
            
            Summary: This gene encodes an assembly factor for the F(1)
            component of the mitochondrial ATP synthase. This protein binds
            specifically to the F1 beta subunit and is thought to prevent this
            subunit from forming nonproductive homooligomers during enzyme
            assembly. Alternatively spliced transcript variants have been
            identified. [provided by RefSeq, Aug 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1472982.1,
                                           SRR18074969.1856569.1 [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                 :: ENST00000574428.6/
                                                  ENSP00000459167.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-308               AL593856.8         21752-22059         c
            309-417             AL593856.8         18951-19059         c
            418-468             AL593856.8         12382-12432         c
            469-531             AL593856.8         11822-11884         c
            532-582             AL593856.8         7512-7562           c
            583-630             AL593856.8         6276-6323           c
            631-726             AL136373.21        117968-118063       c
            727-834             AL136373.21        116001-116108       c
            835-4068            AL136373.21        105544-108777       c
FEATURES             Location/Qualifiers
     source          1..4068
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     gene            1..4068
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /note="ATP synthase mitochondrial F1 complex assembly
                     factor 1"
                     /db_xref="GeneID:64756"
                     /db_xref="HGNC:HGNC:18803"
                     /db_xref="MIM:608917"
     exon            1..308
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1029
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /note="isoform 5 is encoded by transcript variant 5;
                     homolog of yeast ATP11"
                     /codon_start=1
                     /product="ATP synthase mitochondrial F1 complex assembly
                     factor 1 isoform 5"
                     /protein_id="NP_001381494.1"
                     /db_xref="CCDS:CCDS90944.1"
                     /db_xref="GeneID:64756"
                     /db_xref="HGNC:HGNC:18803"
                     /db_xref="MIM:608917"
                     /translation="MAAVVVAAAGGAGPAVLQVAGLYRGLCAVRSRALGLGLVSPAQL
                     RVFPVRPGSGRPEGGADSSGVGAEAELQANPFYDRYRDKIQLLRRSDPAAFESRLEKR
                     SEFRKQPVGHSRQGDFIKCVEQKTDALGKQSVNRGFTKDKTLSSIFNIEMVKEKTAEE
                     IKQIWQQYFAAKDTVYAVIPAEKFDLIWNRAQSCPTFLCALPRREGYEFFVGQWTGTE
                     LHFTALINIQTRGEAAASQLILYHYPELKEEKGIVLMTAEMDSTFLNVAEAQCIANQV
                     QLFYATDRKETYGLVETFNLRPNEFKYMSVIAELEQSGLGAELKCAQNQNKT"
     exon            309..417
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /inference="alignment:Splign:2.1.0"
     exon            418..468
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /inference="alignment:Splign:2.1.0"
     exon            469..531
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /inference="alignment:Splign:2.1.0"
     exon            532..582
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /inference="alignment:Splign:2.1.0"
     exon            583..630
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /inference="alignment:Splign:2.1.0"
     exon            631..726
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /inference="alignment:Splign:2.1.0"
     exon            727..834
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /inference="alignment:Splign:2.1.0"
     exon            835..4068
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1737..1742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /note="hexamer: AATAAA"
     polyA_site      1766
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /note="major polyA site"
     regulatory      4038..4043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
                     /note="hexamer: AATAAA"
     polyA_site      4068
                     /gene="ATPAF1"
                     /gene_synonym="ATP11; ATP11p"
ORIGIN      
        1 gaggccgacg cgcctgagga ggaggaggag gcgggggcgg ccatggctgc tgtggtggtg
       61 gcggctgcgg gtggcgcggg accggcggtc ctgcaggtgg ccggtctcta ccggggcctg
      121 tgcgcggtgc gcagccgcgc cctgggcctg gggctcgtgt cacccgcgca gctgcgcgtc
      181 ttcccagtgc gccccggctc gggccggccc gaggggggcg ccgacagcag cggggtcggg
      241 gccgaggccg agctccaggc caaccctttc tacgaccgct accgcgacaa gatccagctg
      301 ctgcgcaggt cagacccagc tgcttttgag tcccgcctgg agaaacgcag tgaatttcgg
      361 aagcagccag tggggcattc caggcaaggt gattttatca aatgtgtgga acagaagaca
      421 gatgccttgg ggaaacagtc tgtgaacaga ggattcacta aggacaagac tctcagttca
      481 atctttaaca ttgagatggt aaaagaaaaa actgcagaag aaataaaaca gatttggcag
      541 caatattttg cagcaaaaga tacagtctac gcagttattc ctgcagaaaa gtttgatttg
      601 atctggaacc gggctcagtc ctgtccaaca tttctatgtg ctctgccaag aagggaaggt
      661 tatgagtttt ttgtaggaca atggacaggt actgaactcc acttcactgc acttataaat
      721 attcagaccc gaggggaagc tgcagccagc cagctgattt tatatcacta tcctgaactt
      781 aaggaagaaa agggcatagt gctgatgact gcagaaatgg attccacatt tctgaatgtt
      841 gctgaggcac agtgcatcgc caaccaagtt cagctcttct acgctactga tcggaaagag
      901 acctacgggt tagtggagac ctttaacctc agaccaaatg agttcaaata tatgtctgtc
      961 atcgctgaat tggagcaaag cggacttgga gcagaactga aatgtgccca gaaccaaaat
     1021 aagacttaga actgtacagg ttggcccttc acctagttga ctcagccctc gatagtctag
     1081 agcccacccc ctcctcagga actcaagagc tcagcattta taatgagcag ttggtaatga
     1141 gttgccctat gtgcttgtcg caagcagtca cagagatgag ccctattact tgatattcag
     1201 gaacaaaggt acctgaacat tctgataatt atctcagcat acttgaggtt tcctttttta
     1261 agtgttcgag gttataacaa gagacagcca aggacctaca agacagttga cttgattttg
     1321 cacagtgtaa cagcgcagtt gcattctggc cactttgacc ttatagctcc caaatgatga
     1381 gtttgtcatc tttatgaact catgacagga taataagctt gaagacctgc tgtagttaga
     1441 tatgggcttt aatccttccc aggcaccagt cagctgaaca aaagcataag ccaaacatcc
     1501 tgtttaaact gtagaataac cagatattcc catcaggtta aagacttcat ctagatgatg
     1561 ccccccagag atgcctttag tgtaagtagc tggcttgggg tatcagcaaa tttcaggtat
     1621 agttagataa acaggtacag ggcctgcata ctattaaacc atagtttgtg gcacccgctt
     1681 ttctaactcc acctgttaga agctatgtgt ttgaaggaat gaatcagtgc agtataaata
     1741 aaattctttt gtaaggagaa gattaatcct ggtttgcatg atttttttaa aaacaactct
     1801 aaacatgata cgaaaaagtg gatgaaagca aatgttccca gattggatgt ggggaaaata
     1861 tagcaataat ttttttttta agtctggctt acaatgtttg ttatacaaaa taatgaaatc
     1921 tgagttatgt actgtccatt gtgtcagggc tatgggctga ttttatcaaa actcatcttg
     1981 ggactgaaaa attgtttgga atgccagaaa taagaaagtt gttctccaga gctggaaacc
     2041 catctttcgt ttgtagtgtc actgttgtgg ctccaagctc agtgatagga aaggacggtg
     2101 gttacacacc agccttctga acccaaggcc cccagtattg ttgtcagctg cctttaccat
     2161 ggcatttctt tctctttctt tttttcctga gatgaagtct tgctctgtct tgcccaggct
     2221 ggagtacagt agcgtgatct cagctcgctg caacctctac ctccctggtt caagtgattc
     2281 tgctgcgtca gcctcctgag gagctaggat tacaggcgca tgccaccata cctggcttat
     2341 ttttgtattg ttgtagagac agggtttcac tttgttggcc aggctggctg gtctcgaact
     2401 cctggcctca agtgatccac caccttggcc tcccaaagtg ctgggattac aggtgtgagc
     2461 caccgtgcct ggcctgacat ttctttattg atctaacatg ctccactctg ctgctcctgc
     2521 ctaagatctg gttatatgac actgaatgtg gtgagtggga atttaagcag tattcgcagt
     2581 ttgtgtgtgt gtgttttctt ccttccagaa gaatttttat aggttgggcc tgtccctaag
     2641 ctctttaaat agggtggaca tcccactatt ctctgagccg tgtctatttt gttgcacctt
     2701 tgagtctatg tattgagaga gacagatagt atttttttaa actggggaag ctgctatcct
     2761 ttcactattt ctctaaaggt tgagctgtta actaatgtaa attctggacc tgcttctggt
     2821 cctggcagtt tatcttttga gaaacttgag tcttatctgc cctgccattt tcattaaatg
     2881 ccttctgacc ttctgaatgt tttgggtccc aagaattttt gacatcagat ggggttgttt
     2941 ttattggtat ccagttatgt ttgcttgtct ttccagatgg gcccagttat tagccataca
     3001 tagtacattg atacacctcc accagcgggt gaggaaatga tggaaaaagg agtaagaagt
     3061 ggccattcgt tttaatcatt cctcctggat ttgtcctcag tccccaactg ccaagtagga
     3121 tgtgtccatg gataaatgtg tggggcatga ctaaagtacc acgtagctgt tctttatatt
     3181 tatttaccta gaaagatctg gcaaagaact caaagaaaat tgtaccattt aatcagtaaa
     3241 tttgtcccct ggtgctagca tggtgttata gaaagtggac aggctttaga gttaagtgaa
     3301 tctgggttca tatgttagtg ttgctattca ttagctctat actgttgaac aaattgctta
     3361 aactatctaa ttttggggtt ttttttccat ctaaaatagg gataataata tctacctcat
     3421 aggattattg tgagaattaa attaacttca ctatagtaga aaatatcaac taccatcctt
     3481 ttctctactt cccttgcccc tcattaaaga ctaatacaag ttagcatttc agatgtgtag
     3541 atcattcttt attccagtta aaagaacaaa ctttatctca tcagttctga aactttaaga
     3601 tgcagtagca tcacctaaag tgcttttaaa atgcagattc tcaggcctca accgtacacc
     3661 acccccccac acacgtacta aatcaagaat atgtgcagaa ggtactggga atctacttgt
     3721 taatatgtgc tccaaatgat tctgatgtag gtaattagcc agccacactt tgagaaccac
     3781 tgccttatct attctttaca aaaatgtaca ttgccaggtc tttctttcct gtggatgcta
     3841 actataggat atttaggttc ctctgttctt tgtctcccat agtggccccc tttgcaaact
     3901 ccaaatacat tatatttatt tattcttgtg tcttttttcc cccactagac tgtgagctcc
     3961 ttgagggcca ggacttatct ctgttcgcag tgccaaggac atggcctgga ccatagaaga
     4021 tactcagttt tttgttgaat aaataggtaa tatggatttc aaccaaaa
//
