LOCUS       NM_152572               1579 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens adenylate kinase 8 (AK8), transcript variant 1, mRNA.
ACCESSION   NM_152572
VERSION     NM_152572.3
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 1579)
  AUTHORS   Dougherty,G.W., Mizuno,K., Nothe-Menchen,T., Ikawa,Y., Boldt,K.,
            Ta-Shma,A., Aprea,I., Minegishi,K., Pang,Y.P., Pennekamp,P.,
            Loges,N.T., Raidt,J., Hjeij,R., Wallmeier,J., Mussaffi,H.,
            Perles,Z., Elpeleg,O., Rabert,F., Shiratori,H., Letteboer,S.J.,
            Horn,N., Young,S., Strunker,T., Stumme,F., Werner,C., Olbrich,H.,
            Takaoka,K., Ide,T., Twan,W.K., Biebach,L., Grosse-Onnebrink,J.,
            Klinkenbusch,J.A., Praveen,K., Bracht,D.C., Hoben,I.M., Junger,K.,
            Gutzlaff,J., Cindric,S., Aviram,M., Kaiser,T., Memari,Y.,
            Dzeja,P.P., Dworniczak,B., Ueffing,M., Roepman,R., Bartscherer,K.,
            Katsanis,N., Davis,E.E., Amirav,I., Hamada,H. and Omran,H.
  TITLE     CFAP45 deficiency causes situs abnormalities and asthenospermia by
            disrupting an axonemal adenine nucleotide homeostasis module
  JOURNAL   Nat Commun 11 (1), 5520 (2020)
   PUBMED   33139725
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1579)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1579)
  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 1579)
  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 1579)
  AUTHORS   Amiri,M., Conserva,F., Panayiotou,C., Karlsson,A. and Solaroli,N.
  TITLE     The human adenylate kinase 9 is a nucleoside mono- and diphosphate
            kinase
  JOURNAL   Int J Biochem Cell Biol 45 (5), 925-931 (2013)
   PUBMED   23416111
REFERENCE   6  (bases 1 to 1579)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   7  (bases 1 to 1579)
  AUTHORS   Panayiotou,C., Solaroli,N., Xu,Y., Johansson,M. and Karlsson,A.
  TITLE     The characterization of human adenylate kinases 7 and 8
            demonstrates differences in kinetic parameters and structural
            organization among the family of adenylate kinase isoenzymes
  JOURNAL   Biochem J 433 (3), 527-534 (2011)
   PUBMED   21080915
  REMARK    GeneRIF: Both AK7 and full-length AK8 showed highest affinity for
            AMP with ATP as the phosphate donor, and proved to be more
            efficient in AMP phosphorylation as compared with the major
            cytosolic isoform AK1
REFERENCE   8  (bases 1 to 1579)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1579)
  AUTHORS   Lesch,K.P., Timmesfeld,N., Renner,T.J., Halperin,R., Roser,C.,
            Nguyen,T.T., Craig,D.W., Romanos,J., Heine,M., Meyer,J.,
            Freitag,C., Warnke,A., Romanos,M., Schafer,H., Walitza,S., Reif,A.,
            Stephan,D.A. and Jacob,C.
  TITLE     Molecular genetics of adult ADHD: converging evidence from
            genome-wide association and extended pedigree linkage studies
  JOURNAL   J Neural Transm (Vienna) 115 (11), 1573-1585 (2008)
   PUBMED   18839057
REFERENCE   10 (bases 1 to 1579)
  AUTHORS   Van Rompay,A.R., Johansson,M. and Karlsson,A.
  TITLE     Identification of a novel human adenylate kinase. cDNA cloning,
            expression analysis, chromosome localization and characterization
            of the recombinant protein
  JOURNAL   Eur J Biochem 261 (2), 509-517 (1999)
   PUBMED   10215863
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445645.10 and AL160165.17.
            
            On Jul 25, 2019 this sequence version replaced NM_152572.2.
            
            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.
            
            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 :: AK057266.1, BC050576.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298545.4/ ENSP00000298545.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               AL445645.10        122021-122133       c
            114-198             AL445645.10        118964-119048       c
            199-248             AL445645.10        110753-110802       c
            249-362             AL445645.10        107514-107627       c
            363-431             AL445645.10        98706-98774         c
            432-513             AL445645.10        72494-72575         c
            514-585             AL445645.10        71862-71933         c
            586-786             AL445645.10        70703-70903         c
            787-918             AL445645.10        67054-67185         c
            919-1008            AL445645.10        58487-58576         c
            1009-1150           AL445645.10        36483-36624         c
            1151-1231           AL160165.17        110979-111059       c
            1232-1579           AL160165.17        109103-109450       c
FEATURES             Location/Qualifiers
     source          1..1579
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     gene            1..1579
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /note="adenylate kinase 8"
                     /db_xref="GeneID:158067"
                     /db_xref="HGNC:HGNC:26526"
                     /db_xref="MIM:615365"
     exon            1..113
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..1469
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /EC_number="2.7.4.3"
                     /EC_number="2.7.4.6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative adenylate kinase-like protein C9orf98; ATP-AMP
                     transphosphorylase 8"
                     /codon_start=1
                     /product="adenylate kinase 8 isoform 1"
                     /protein_id="NP_689785.1"
                     /db_xref="CCDS:CCDS6954.1"
                     /db_xref="GeneID:158067"
                     /db_xref="HGNC:HGNC:26526"
                     /db_xref="MIM:615365"
                     /translation="MDATIAPHRIPPEMPQYGEENHIFELMQNMLEQLLIHQPEDPIP
                     FMIQHLHRDNDNVPRIVILGPPASGKTTIAMWLCKHLNSSLLTLENLILNEFSYTATE
                     ARRLYLQRKTVPSALLVQLIQERLAEEDCIKQGWILDGIPETREQALRIQTLGITPRH
                     VIVLSAPDTVLIERNLGKRIDPQTGEIYHTTFDWPPESEIQNRLMVPEDISELETAQK
                     LLEYHRNIVRVIPSYPKILKVISADQPCVDVFYQALTYVQSNHRTNAPFTPRVLLLGP
                     VGSGKSLQAALLAQKYRLVNVCCGQLLKEAVADRTTFGELIQPFFEKEMAVPDSLLMK
                     VLSQRLDQQDCIQKGWVLHGVPRDLDQAHLLNRLGYNPNRVFFLNVPFDSIMERLTLR
                     RIDPVTGERYHLMYKPPPTMEIQARLLQNPKDAEEQVKLKMDLFYRNSADLEQLYGSA
                     ITLNGDQDPYTVFEYIESGIINPLPKKIP"
     exon            114..198
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            199..248
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            249..362
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            363..431
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            432..513
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            514..585
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            586..786
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            787..918
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1008
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1150
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1231
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1579
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1559..1564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /note="hexamer: AATAAA"
     polyA_site      1579
                     /gene="AK8"
                     /gene_synonym="AK 8; C9orf98; DDX31"
                     /note="major polyA site"
ORIGIN      
        1 actagggagc ggcgagccga gacggctaca tggacgccac tatcgccccg caccgtatcc
       61 cccccgagat gccccagtac ggggaggaga accacatctt cgagttgatg cagaacatgc
      121 tggagcaact cctgatccac cagcccgaag atcccatccc cttcatgatc cagcacttgc
      181 atagagacaa cgacaatgtg cccaggattg taatattagg tccacccgcc tcagggaaaa
      241 caacaatagc aatgtggctc tgcaaacatc tgaacagcag tctcctcacc ctggagaacc
      301 tgatcttaaa tgagttttcc tatacggcca ccgaagccag aaggctttat ctgcaaagga
      361 agacagttcc cagcgcgctg ctcgtccagc tgattcagga acgcctggct gaagaggatt
      421 gcatcaagca gggctggatt ctggatggca tccctgagac gcgtgagcag gctctgagga
      481 tccagaccct ggggatcaca cccagacacg tcattgtgct gagtgctcca gacacggtcc
      541 tgatcgagag aaacttgggg aagagaatcg accctcaaac tggagagatt tatcacacca
      601 cctttgactg gccacccgaa tctgaaatcc agaaccgtct catggtgcca gaggacatct
      661 cagagctgga gacggctcag aaactgctgg agtatcatag gaacatcgtc agggtcattc
      721 cctcctaccc caaaatcctc aaagtcatca gtgctgacca gccatgtgtg gacgtcttct
      781 accaggctct gacctatgtc caaagcaacc atcgtactaa tgccccgttc accccgaggg
      841 tgctgctgct cgggcctgtg ggcagtggga aaagtctgca ggccgccctc ctggcccaga
      901 aatacaggct tgtcaatgtc tgctgtgggc aactgctgaa agaggctgtg gcagatagga
      961 ccacgtttgg cgagctcatc cagcccttct ttgaaaagga gatggcagtt cctgacagcc
     1021 tcctcatgaa ggtgctgagc cagcgcctgg accagcagga ctgcatccag aaaggctggg
     1081 tgctacacgg cgtcccgcgg gacctcgacc aggcacacct gctgaaccgc ctgggctaca
     1141 atcccaacag ggtgtttttc ctgaatgtgc catttgattc catcatggag cggctgactc
     1201 tgagaagaat tgatccagtc actggggaaa ggtaccacct catgtacaag ccacctccca
     1261 ccatggagat ccaggctcgc ctcctgcaga acccaaagga tgctgaagag caggtcaagc
     1321 tgaaaatgga cctgttctac aggaactcag ctgacttgga gcagttgtat gggtcggcca
     1381 tcaccctcaa tggggaccag gacccataca cagtcttcga atacatcgag agtgggatca
     1441 ttaatcccct gcccaagaaa atcccctgat gggttcagag ccaggagcgc tgccccaggg
     1501 aaagagttaa tcccctgccc ccagcccccc agcctcggca cagctcccct aaaaagccaa
     1561 taaagcctgc tggatacag
//
