LOCUS       NM_052853               2574 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.
ACCESSION   NM_052853
VERSION     NM_052853.4
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 2574)
  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 2574)
  AUTHORS   Zhang,H., Cao,X., Tang,M., Zhong,G., Si,Y., Li,H., Zhu,F., Liao,Q.,
            Li,L., Zhao,J., Feng,J., Li,S., Wang,C., Kaulich,M., Wang,F.,
            Chen,L., Li,L., Xia,Z., Liang,T., Lu,H., Feng,X.H. and Zhao,B.
  TITLE     A subcellular map of the human kinome
  JOURNAL   Elife 10, e64943 (2021)
   PUBMED   33988507
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2574)
  AUTHORS   Vazquez-Fonseca,L., Schaefer,J., Navas-Enamorado,I.,
            Santos-Ocana,C., Hernandez-Camacho,J.D., Guerra,I., Cascajo,M.V.,
            Sanchez-Cuesta,A., Horvath,Z., Siendones,E., Jou,C., Casado,M.,
            Gutierrez,P., Brea-Calvo,G., Lopez-Lluch,G.,
            Fernandez-Ayala,D.J.M., Cortes-Rodriguez,A.B.,
            Rodriguez-Aguilera,J.C., Matte,C., Ribes,A., Prieto-Soler,S.Y.,
            Dominguez-Del-Toro,E., Francesco,A.D., Aon,M.A., Bernier,M.,
            Salviati,L., Artuch,R., Cabo,R., Jackson,S. and Navas,P.
  TITLE     ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and
            Causes Myopathy Associated with CoQ Deficiency
  JOURNAL   J Clin Med 8 (9), 1374 (2019)
   PUBMED   31480808
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2574)
  AUTHORS   Floyd,B.J., Wilkerson,E.M., Veling,M.T., Minogue,C.E., Xia,C.,
            Beebe,E.T., Wrobel,R.L., Cho,H., Kremer,L.S., Alston,C.L.,
            Gromek,K.A., Dolan,B.K., Ulbrich,A., Stefely,J.A., Bohl,S.L.,
            Werner,K.M., Jochem,A., Westphall,M.S., Rensvold,J.W., Taylor,R.W.,
            Prokisch,H., Kim,J.P., Coon,J.J. and Pagliarini,D.J.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   5  (bases 1 to 2574)
  AUTHORS   Korkmaz,E., Lipska-Zietkiewicz,B.S., Boyer,O., Gribouval,O.,
            Fourrage,C., Tabatabaei,M., Schnaidt,S., Gucer,S., Kaymaz,F.,
            Arici,M., Dinckan,A., Mir,S., Bayazit,A.K., Emre,S., Balat,A.,
            Rees,L., Shroff,R., Bergmann,C., Mourani,C., Antignac,C.,
            Ozaltin,F. and Schaefer,F.
  CONSRTM   PodoNet Consortium
  TITLE     ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS
  JOURNAL   J Am Soc Nephrol 27 (1), 63-68 (2016)
   PUBMED   25967120
  REMARK    GeneRIF: ADCK4-related glomerulopathy is an important novel
            differential diagnosis in adolescents with SRNS/FSGS and/or CKD of
            unknown origin
REFERENCE   6  (bases 1 to 2574)
  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
            AC006452.5, AY302592.1 and AC006344.2.
            
            On Nov 22, 2018 this sequence version replaced NM_052853.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.156497.1,
                                           SRR1803614.228982.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000072869.9/ ENSP00000072869.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-208               AC006452.5         111215-111422
            209-2572            AY302592.1         1-2364
            2573-2574           AC006344.2         11874-11875
FEATURES             Location/Qualifiers
     source          1..2574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..2574
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /note="aarF domain containing kinase 2"
                     /db_xref="GeneID:90956"
                     /db_xref="HGNC:HGNC:19039"
     exon            1..1319
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /inference="alignment:Splign:2.1.0"
     CDS             387..2267
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /note="putative ubiquinone biosynthesis protein AarF"
                     /codon_start=1
                     /product="uncharacterized aarF domain-containing protein
                     kinase 2"
                     /protein_id="NP_443085.2"
                     /db_xref="CCDS:CCDS5861.1"
                     /db_xref="GeneID:90956"
                     /db_xref="HGNC:HGNC:19039"
                     /translation="MVAPWRVSVRVCLSHLRCFELRQGLSLLRPSECPRDARLCWLLL
                     GTLPKVVSLCGDVGEGAPDVLSRRRVRCSGAAGAGPAESLPRAGPLGGVFLHLRLWLR
                     AGALLVKFFPLLLLYPLTYLAPSVSTLWLHLLLKATETSGPTYIKLGQWASTRRDLFS
                     EAFCAQFSKLHVRVTPHPWTHTERFLRQAFGDDWGSILSFENREPVGSGCVAQVYKAY
                     ANTAFLETDSVQRLGRASCLPPFSHTGAVGGLRELFGYLGNGRKPPENLADQSFLERL
                     LLPKADLVGSNAGVSRAQVPGHQPEATNLISVAVKVLHPGLLAQVHMDLLLMKIGSRV
                     LGVLPGIKWLSLPEIVEEFEKLMVQQIDLRYEAQNLEHFQVNFRNVKAVKFPTPLRPF
                     VTREVLVETYEESVPVSSYQQAGIPVDLKRKIARLGINMLLKMIFVDNFVHADLHPGN
                     ILVQGANGLSSSQEAQLQQADICDTLVVAVPSSLCPLRLVLLDAGIVAELQAPDLRNF
                     RAVFMAVVMGQGQRVAELILHHARASECRDVEGFKTEMAMLVTQARKNTITLEKLHVS
                     SLLSSVFKLLMTHKVKLESNFASIVFAIMVLEGLGRSLDPKLDILEAARPFLLTGPVC
                     PP"
     exon            1320..1466
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /inference="alignment:Splign:2.1.0"
     exon            1467..1595
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..1691
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /inference="alignment:Splign:2.1.0"
     exon            1692..1943
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /inference="alignment:Splign:2.1.0"
     exon            1944..2072
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /inference="alignment:Splign:2.1.0"
     exon            2073..2126
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /inference="alignment:Splign:2.1.0"
     exon            2127..2574
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2554..2559
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /note="hexamer: AATAAA"
     polyA_site      2574
                     /gene="ADCK2"
                     /gene_synonym="AARF"
                     /note="major polyA site"
ORIGIN      
        1 gccaccccag cgatctcata ctggcccctg ggcgcacggt gaccctgcgg ctgcccggcc
       61 cctgcctccg cccgcgcggc cccctcgctc aggtcgcggg cgcccggggc ctggcttcgc
      121 gtgggtcctg gctcctcccg ttccgcagtt ggtgccgtct gacagcccct tccgcgcggc
      181 gcggcgcggc gcggcgggtg tcgggcgggg cgcgggcctc cggcctgagg cccggcgagg
      241 tgctggaggg agcggggcgc ggatccggcc cagatgggca gctccgtccg cggggtcagg
      301 gccgggcttc ggcttcaccg cagcctcgcc tgagcgggcg cctctgaagt ggagggcggg
      361 ccgcctgggc cgcgggcctc gggaggatgg tggcgccctg gcgcgtctcc gtcagggttt
      421 gcctgtcgca cctgaggtgc ttcgagctca gacagggact cagcctcctg aggccctccg
      481 agtgccctcg cgatgccagg ctctgctggc ttctgctggg cactttgccc aaggtcgtct
      541 ccctgtgcgg ggacgtgggt gagggggccc ctgacgttct gagtcggcga agggtccgct
      601 gcagcggggc ggctggcgcg gggcccgcgg agagcctccc ccgagcggga cctctgggcg
      661 gcgtcttcct gcatctccgc ctctggcttc gcgccggcgc tctgttggtg aaattcttcc
      721 ccctcctact cctctacccc ctcacctacc tggctcccag cgtctccacc ctctggctcc
      781 acctgcttct gaaagccacc gagacctcag gcccaaccta catcaaactg ggccagtggg
      841 ccagcacccg gcgcgatctg ttttcggagg ctttctgtgc ccaattttcc aagctgcatg
      901 tccgagtgac gccccacccg tggactcaca ctgagcgctt ccttcggcag gcttttgggg
      961 atgactgggg gagcatcctc tcttttgaga accgggaacc tgtgggctca ggctgcgtgg
     1021 cccaggtgta caaagcatac gccaacactg ccttcctgga gactgacagc gtccagagac
     1081 ttggcagggc ctcctgtctg ccgcccttct cacatactgg ggcagtcggt gggctgagag
     1141 agctctttgg ataccttgga aatggccgga aacctccaga aaatctcgca gaccagtcgt
     1201 ttctagaaag gctgctcctc cctaaagctg acctggttgg atcaaatgca ggggtgtctc
     1261 gggctcaggt ccctggccac caacctgagg ccaccaacct catctccgtg gcagtgaaag
     1321 tgttgcaccc tggcctgctc gctcaggtgc atatggacct gctgctgatg aagattggca
     1381 gccgagtcct gggagttttg ccaggcatca agtggcttag cttgcctgag attgtggagg
     1441 aatttgagaa gctgatggtc caacagattg acctgcgtta cgaagctcag aatctagaac
     1501 acttccaggt caacttccgg aatgtgaaag ccgtcaagtt ccccacccct ctgcgcccct
     1561 ttgtcaccag agaagtcttg gtggaaacgt atgaagagag tgtgcctgtg tccagttacc
     1621 agcaggcagg aattcccgtg gacttgaaaa ggaagattgc acggctgggg atcaacatgc
     1681 tcctgaagat gatatttgtg gataactttg tccatgcaga ccttcaccct ggaaacatcc
     1741 tggttcaggg tgccaacggc ctgtcctcga gtcaggaggc gcagctgcag caggcggaca
     1801 tctgtgacac tctggtggtg gccgtgccat cttccctctg cccgctgcga ctggtgctgc
     1861 tggatgctgg cattgtggcg gagctgcagg cccctgacct gaggaatttc cgggcagttt
     1921 tcatggctgt ggtgatgggg cagggccaga gagtggctga gctgatcctg catcatgccc
     1981 gggccagcga gtgcagggac gtggaggggt tcaaaaccga gatggccatg ctggtgaccc
     2041 aggccaggaa gaacaccatc accctggaga agcttcatgt gtccagcctt ctctctagtg
     2101 tctttaagtt gctgatgact cacaaggtaa agcttgagag caactttgcc tccattgtgt
     2161 ttgccatcat ggtgttggag gggcttggcc gctcactgga ccccaaactg gacatcctgg
     2221 aggcagcgag gcccttcctc ctcacgggcc cagtgtgccc cccgtgatgg ggcagtggcc
     2281 tctgtgggcc cttgtcaaga gctggaggcc actcccaaga gcctctccta tggcagctgg
     2341 gacgttttaa aattgggaca ccaatttcaa atgtaaccct ccagtggtgg aaggcacacc
     2401 atggcttcct ctgcttggtt tgagggtctg ttcaaaagct ttgggccaat tagggagtaa
     2461 aaggagggaa ggggcctatc cattccattg tggaagctgg gccaggtgcc agggacactc
     2521 tccttcaggg aaaatgttat gtggaggagg acgaataaat ttattttgtt ttcc
//
