LOCUS       NM_001170535            2481 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens ATPase family AAA domain containing 3A (ATAD3A),
            transcript variant 2, mRNA.
ACCESSION   NM_001170535
VERSION     NM_001170535.3
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 2481)
  AUTHORS   Brar,K.K., Hughes,D.T., Morris,J.L., Subramanian,K., Krishna,S.,
            Gao,F., Rieder,L.S., Uhrig,S., Freeman,J., Smith,H.L.,
            Jukes-Jones,R., Avezov,E., Nunnari,J., Prudent,J., Butcher,A.J. and
            Mallucci,G.R.
  TITLE     PERK-ATAD3A interaction provides a subcellular safe haven for
            protein synthesis during ER stress
  JOURNAL   Science 385 (6712), eadp7114 (2024)
   PUBMED   39116259
  REMARK    GeneRIF: PERK-ATAD3A interaction provides a subcellular safe haven
            for protein synthesis during ER stress.
REFERENCE   2  (bases 1 to 2481)
  AUTHORS   Jiang,T., Li,N., Xu,H., Sun,L., Zhang,Y., Luo,Q. and Yang,L.
  TITLE     Identification of ATAD3A as a key regulator in non-small cell lung
            cancer by promoting STAT3-induced cell proliferation and tumor
            angiogenesis
  JOURNAL   Mol Carcinog 63 (3), 510-523 (2024)
   PUBMED   38050826
  REMARK    GeneRIF: Identification of ATAD3A as a key regulator in non-small
            cell lung cancer by promoting STAT3-induced cell proliferation and
            tumor angiogenesis.
REFERENCE   3  (bases 1 to 2481)
  AUTHORS   Gaudo,P., de Tomas-Mateo,E., Garrido-Perez,N., Santana,A.,
            Ruiz-Pesini,E., Montoya,J. and Bayona-Bafaluy,P.
  TITLE     'ATAD3C regulates ATAD3A assembly and function in the mitochondrial
            membrane'
  JOURNAL   Free Radic Biol Med 211, 114-126 (2024)
   PUBMED   38092275
  REMARK    GeneRIF: 'ATAD3C regulates ATAD3A assembly and function in the
            mitochondrial membrane'.
REFERENCE   4  (bases 1 to 2481)
  AUTHORS   Liu,Z., Sun,L., Zheng,B., Wang,H., Qin,X., Zhang,P., Wo,Q., Li,H.,
            Mou,Y., Zhang,D. and Wang,S.
  TITLE     The value of ATAD3A as a potential biomarker for bladder cancer
  JOURNAL   Cancer Med 12 (24), 22395-22406 (2023)
   PUBMED   38018291
  REMARK    GeneRIF: The value of ATAD3A as a potential biomarker for bladder
            cancer.
REFERENCE   5  (bases 1 to 2481)
  AUTHORS   Fu,Y., Sacco,O., DeBitetto,E., Kanshin,E., Ueberheide,B. and
            Sfeir,A.
  TITLE     Mitochondrial DNA breaks activate an integrated stress response to
            reestablish homeostasis
  JOURNAL   Mol Cell 83 (20), 3740-3753 (2023)
   PUBMED   37832546
REFERENCE   6  (bases 1 to 2481)
  AUTHORS   Hubstenberger,A., Labourdette,G., Baudier,J. and Rousseau,D.
  TITLE     ATAD 3A and ATAD 3B are distal 1p-located genes differentially
            expressed in human glioma cell lines and present in vitro
            anti-oncogenic and chemoresistant properties
  JOURNAL   Exp Cell Res 314 (15), 2870-2883 (2008)
   PUBMED   18639545
  REMARK    GeneRIF: We also have shown that the loss of ATAD 3A/3B may be
            involved in the transformation pathway and the chemosensitivity of
            oligodendrogliomas.
REFERENCE   7  (bases 1 to 2481)
  AUTHORS   Bogenhagen,D.F., Rousseau,D. and Burke,S.
  TITLE     The layered structure of human mitochondrial DNA nucleoids
  JOURNAL   J Biol Chem 283 (6), 3665-3675 (2008)
   PUBMED   18063578
REFERENCE   8  (bases 1 to 2481)
  AUTHORS   He,J., Mao,C.C., Reyes,A., Sembongi,H., Di Re,M., Granycome,C.,
            Clippingdale,A.B., Fearnley,I.M., Harbour,M., Robinson,A.J.,
            Reichelt,S., Spelbrink,J.N., Walker,J.E. and Holt,I.J.
  TITLE     The AAA+ protein ATAD3 has displacement loop binding properties and
            is involved in mitochondrial nucleoid organization
  JOURNAL   J Cell Biol 176 (2), 141-146 (2007)
   PUBMED   17210950
  REMARK    GeneRIF: Results suggest that mitochondrial DNA displacement loops
            serve to recruit ATAD3 protein for the purpose of forming or
            segregating mitochondrial nucleoids.
REFERENCE   9  (bases 1 to 2481)
  AUTHORS   Schaffrik,M., Mack,B., Matthias,C., Rauch,J. and Gires,O.
  TITLE     Molecular characterization of the tumor-associated antigen AAA-TOB3
  JOURNAL   Cell Mol Life Sci 63 (18), 2162-2174 (2006)
   PUBMED   16909202
REFERENCE   10 (bases 1 to 2481)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA206969.1, BC014101.2,
            AK001571.1 and BC011814.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001170535.2.
            
            Summary: This gene encodes a ubiquitously expressed mitochondrial
            membrane protein that contributes to mitochondrial dynamics,
            nucleoid organization, protein translation, cell growth, and
            cholesterol metabolism. This gene is a member of the ATPase family
            AAA-domain containing 3 gene family which, in humans, includes two
            other paralogs. Naturally occurring mutations in this gene are
            associated with distinct neurological syndromes including
            Harel-Yoon syndrome. High-level expression of this gene is
            associated with poor survival in breast cancer patients. A
            homozygous knockout of the orthologous gene in mice results in
            embryonic lethality at day 7.5 due to growth retardation and
            defective development of the trophoblast lineage. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Feb 2017].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1. The
            encoded isoform (2) is shorter compared to isoform 1.
            
            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 :: BC014101.2, SRR1163658.208765.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 17210950, 18639545;
                                                  reported by MitoCarta
            MANE Ensembl match                 :: ENST00000378756.8/
                                                  ENSP00000368031.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-215               DA206969.1         20-234
            216-1961            BC014101.2         225-1970
            1962-2022           AK001571.1         1964-2024
            2023-2481           BC011814.2         2008-2466
FEATURES             Location/Qualifiers
     source          1..2481
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..2481
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /note="ATPase family AAA domain containing 3A"
                     /db_xref="GeneID:55210"
                     /db_xref="HGNC:HGNC:25567"
                     /db_xref="MIM:612316"
     exon            1..312
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..1868
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ATPase family AAA domain-containing protein 3A"
                     /codon_start=1
                     /product="ATPase family AAA domain-containing protein 3A
                     isoform 2"
                     /protein_id="NP_001164006.1"
                     /db_xref="CCDS:CCDS53259.1"
                     /db_xref="GeneID:55210"
                     /db_xref="HGNC:HGNC:25567"
                     /db_xref="MIM:612316"
                     /translation="MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPK
                     DKWSNFDPTGLERAAKAARELEHSRYAKDALNLAQMQEQTLQLEQQSKLKEYEAAVEQ
                     LKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQE
                     ESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEH
                     RQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIE
                     ARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVLSPSLEARVRDIAIA
                     TRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAM
                     HKLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLV
                     LASNQPEQFDWAINDRINEMVHFDLPGQEERERLVRMYFDKYVLKPATEGKQRLKLAQ
                     FDYGRKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEAMMDTRVQDAVQQHQ
                     QKMCWLKAEGPGRGDEPSPS"
     exon            313..389
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            390..491
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            492..551
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            552..621
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            622..787
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            788..857
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            858..1013
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1070
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1196
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1321
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1373
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1374..1444
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..1612
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1721
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..2481
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2459..2464
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /note="hexamer: AATAAA"
     polyA_site      2481
                     /gene="ATAD3A"
                     /gene_synonym="HAYOS; PHRINL"
                     /note="major polyA site"
ORIGIN      
        1 agtggcggtg accaccggct cgcggcgcgt ggaggctgct cccagccgcg cgcgagtcag
       61 actcgggtgg gggtcccggc ggcggtagcg gcggcggcgg tgcgagcatg tcgtggctct
      121 tcggcattaa caagggcccc aagggtgaag gcgcggggcc gccgccgcct ttgccgcccg
      181 cgcagcccgg ggccgagggc ggcggggacc gcgggttggg agaccggccg gcgcccaagg
      241 acaaatggag caacttcgac cccaccggcc tggagcgcgc cgccaaggcg gcgcgcgagc
      301 tggagcactc gcgttatgcc aaggacgccc tgaatctggc acagatgcag gagcagacgc
      361 tgcagttgga gcaacagtcc aagctcaaag agtatgaggc cgccgtggag cagctcaaga
      421 gcgagcagat ccgggcgcag gctgaggaga ggaggaagac cctgagcgag gagacccggc
      481 agcaccaggc cagggcccag tatcaagaca agctggcccg gcagcgctac gaggaccaac
      541 tgaagcagca gcaacttctc aatgaggaga atttacggaa gcaggaggag tccgtgcaga
      601 agcaggaagc catgcggcga gccaccgtgg agcgggagat ggagctgcgg cacaagaatg
      661 agatgctgcg agtggaggcc gaggcccggg cgcgcgccaa ggccgagcgg gagaatgcag
      721 acatcatccg cgagcagatc cgcctgaagg cggccgagca ccgtcagacc gtcttggagt
      781 ccatcaggac ggctggcacc ttgtttgggg aaggattccg tgcctttgtg acagactggg
      841 acaaagtgac agccacggtg gctgggctga cgctgctggc tgttggggtc tactcagcca
      901 agaatgccac gcttgtcgcc ggccgcttca tcgaggctcg gctggggaag ccgtccctag
      961 tgagggagac gtcccgcatc acggtgcttg aggcgctgcg gcaccccatc caggtcagcc
     1021 ggcggctcct cagtcgaccc caggacgcgc tggagggtgt tgtgctcagt cccagcctgg
     1081 aagcacgggt gcgcgacatc gccatagcaa caaggaacac caagaagaac cgcagcctgt
     1141 acaggaacat cctgatgtac gggccaccag gcaccgggaa gacgctgttt gccaagaaac
     1201 tcgccctgca ctcaggcatg gactacgcca tcatgacagg cggggacgtg gcccccatgg
     1261 ggcgggaagg cgtgaccgcc atgcacaagc tctttgactg ggccaatacc agccggcgcg
     1321 gcctcctgct ctttgtggat gaagcggacg ccttccttcg gaagcgagcc accgagaaga
     1381 taagcgagga cctcagggcc acactgaacg ccttcctgta ccgcacgggc cagcacagca
     1441 acaagttcat gctggtcctg gccagcaacc aaccagagca gttcgactgg gccatcaatg
     1501 accgcatcaa tgagatggtc cacttcgacc tgccagggca ggaggaacgg gagcgcctgg
     1561 tgagaatgta ttttgacaag tatgttctta agccggccac agaaggaaag cagcgcctga
     1621 agctggccca gtttgactac gggaggaagt gctcggaggt cgctcggctg acggagggca
     1681 tgtcgggccg ggagatcgct cagctggccg tgtcctggca ggccacggcg tatgcctccg
     1741 aggacggggt cctgaccgag gccatgatgg acacccgcgt gcaagatgct gtccagcagc
     1801 accagcagaa gatgtgctgg ctgaaggcgg aagggcctgg gcgtggggac gagccctccc
     1861 catcctgagt ccacagggag atccacagct cacggagcct ggccgcggac ccctcccacc
     1921 cctgccttgc cggcccctgc acatttagga tatgctcctg ggtggggact gggctgtgcc
     1981 cagggcctct gtcccccagg atgtcttgtg gtgcgggtcg gccgttctgc cccccagggc
     2041 accccctgtt gtaggcactg gctagggagg ggcaggcctc cttcctgccc ctcgagacac
     2101 tcttgggaga tgcattttcc gtctggctca cagggggagg gtgaggcttt gcaccccagc
     2161 ccctgcccag gccactgtga gggtgggtgc tggctgagcc cccggggcag caggagccag
     2221 gcaggtgatg tctttgttct cggctcccac agcagagcca ggtgaggggg cgcctgccag
     2281 ggccagaccc aggtggggca gcctgaaccc tgcttccccc tgtggccggc atgccccgat
     2341 ctttcacaca ctggtgaccc tgagagagga gggaggaggg aacctggcgg gggtgtctga
     2401 ggccgcactg tcagctggcc ggtccaagcc tgtggctgga gctggggtct gtttacctaa
     2461 taaagtccca caggtgcctc a
//
