LOCUS       NM_006721               1992 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.
ACCESSION   NM_006721
VERSION     NM_006721.4
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 1992)
  AUTHORS   Chen,T., Yu,J., Guo,X., Wang,S., Wang,Z., Chen,Y., Hu,X., Li,H.,
            Chen,L. and Zheng,J.
  TITLE     Adenosine kinase inhibits beta-cell proliferation by upregulating
            DNA methyltransferase 3A expression
  JOURNAL   Diabetes Obes Metab 26 (7), 2956-2968 (2024)
   PUBMED   38699782
  REMARK    GeneRIF: Adenosine kinase inhibits beta-cell proliferation by
            upregulating DNA methyltransferase 3A expression.
REFERENCE   2  (bases 1 to 1992)
  AUTHORS   Li,H., Zheng,J., Xu,Q., Yang,Y., Zhou,J., Guo,X., Cai,Y., Cai,J.J.,
            Xie,L., Awika,J., Han,X., Li,Q., Kennedy,L., Francis,H., Glaser,S.,
            Huo,Y., Alpini,G. and Wu,C.
  TITLE     Hepatocyte Adenosine Kinase Promotes Excessive Fat Deposition and
            Liver Inflammation
  JOURNAL   Gastroenterology 164 (1), 134-146 (2023)
   PUBMED   36181835
  REMARK    GeneRIF: Hepatocyte Adenosine Kinase Promotes Excessive Fat
            Deposition and Liver Inflammation.
REFERENCE   3  (bases 1 to 1992)
  AUTHORS   Zhang,Y., Wang,X., Tang,C., Guan,Y., Chen,F., Gao,Q., Wang,J.,
            Zhou,J., Zhai,F., Boison,D., Luan,G. and Li,T.
  TITLE     Genetic variations of adenosine kinase as predictable biomarkers of
            efficacy of vagus nerve stimulation in patients with
            pharmacoresistant epilepsy
  JOURNAL   J Neurosurg 136 (3), 726-735 (2021)
   PUBMED   34479194
  REMARK    GeneRIF: Genetic variations of adenosine kinase as predictable
            biomarkers of efficacy of vagus nerve stimulation in patients with
            pharmacoresistant epilepsy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1992)
  AUTHORS   Becker,P.H., Demir,Z., Mozer Glassberg,Y., Sevin,C., Habes,D.,
            Imbard,A., Mussini,C., Rozenfeld Bar Lev,M., Davit-Spraul,A.,
            Benoist,J.F., Therond,P., Slama,A., Jacquemin,E., Gonzales,E. and
            Gaignard,P.
  TITLE     Adenosine kinase deficiency: Three new cases and diagnostic value
            of hypermethioninemia
  JOURNAL   Mol Genet Metab 132 (1), 38-43 (2021)
   PUBMED   33309011
  REMARK    GeneRIF: Adenosine kinase deficiency: Three new cases and
            diagnostic value of hypermethioninemia.
REFERENCE   5  (bases 1 to 1992)
  AUTHORS   Luan,G., Wang,X., Gao,Q., Guan,Y., Wang,J., Deng,J., Zhai,F.,
            Chen,Y. and Li,T.
  TITLE     Upregulation of Neuronal Adenosine A1 Receptor in Human Rasmussen
            Encephalitis
  JOURNAL   J Neuropathol Exp Neurol 76 (8), 720-731 (2017)
   PUBMED   28789481
  REMARK    GeneRIF: The results of this study showed that over-expression of
            the major adenosine removing enzyme ADK in reactive astrocytes and
            subpopulation of remaining neurons in Rasmussen Encephalitis
            patients plays an important role in the epileptogensis of Rasmussen
            Encephalitis.
REFERENCE   6  (bases 1 to 1992)
  AUTHORS   Singh,B., Hao,W., Wu,Z., Eigl,B. and Gupta,R.S.
  TITLE     Cloning and characterization of cDNA for adenosine kinase from
            mammalian (Chinese hamster, mouse, human and rat) species. High
            frequency mutants of Chinese hamster ovary cells involve structural
            alterations in the gene
  JOURNAL   Eur J Biochem 241 (2), 564-571 (1996)
   PUBMED   8917457
REFERENCE   7  (bases 1 to 1992)
  AUTHORS   Spychala,J., Datta,N.S., Takabayashi,K., Datta,M., Fox,I.H.,
            Gribbin,T. and Mitchell,B.S.
  TITLE     Cloning of human adenosine kinase cDNA: sequence similarity to
            microbial ribokinases and fructokinases
  JOURNAL   Proc Natl Acad Sci U S A 93 (3), 1232-1237 (1996)
   PUBMED   8577746
REFERENCE   8  (bases 1 to 1992)
  AUTHORS   Hurley,M.C., Lin,B. and Fox,I.H.
  TITLE     Regulation of deoxyadenosine and nucleoside analog phosphorylation
            by human placental adenosine kinase
  JOURNAL   J Biol Chem 260 (29), 15675-15681 (1985)
   PUBMED   2999129
REFERENCE   9  (bases 1 to 1992)
  AUTHORS   Andres,C.M. and Fox,I.H.
  TITLE     Purification and properties of human placental adenosine kinase
  JOURNAL   J Biol Chem 254 (22), 11388-11393 (1979)
   PUBMED   227870
REFERENCE   10 (bases 1 to 1992)
  AUTHORS   Klobutcher,L.A., Nichols,E.A., Kucherlapati,R.S. and Ruddle,F.H.
  TITLE     Assignment of the gene for human adenosine kinase to chromosome 10
            using a somatic cell hybrid clone panel
  JOURNAL   Cytogenet Cell Genet 16 (1-5), 171-174 (1976)
   PUBMED   185014
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301590.1, U90338.1 and
            HM005327.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 18, 2019 this sequence version replaced NM_006721.3.
            
            Summary: This gene an enzyme which catalyzes the transfer of the
            gamma-phosphate from ATP to adenosine, thereby serving as a
            regulator of concentrations of both extracellular adenosine and
            intracellular adenine nucleotides. Adenosine has widespread effects
            on the cardiovascular, nervous, respiratory, and immune systems and
            inhibitors of the enzyme could play an important pharmacological
            role in increasing intravascular adenosine concentrations and
            acting as anti-inflammatory agents. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (2), alternately referred to as
            ADK-long, differs in the 5' UTR and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (b) is longer than isoform a.
            
            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.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000539909.6/ ENSP00000443965.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AK301590.1         20-27
            9-1177              U90338.1           1-1169
            1178-1992           HM005327.1         1256-2070
FEATURES             Location/Qualifiers
     source          1..1992
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     gene            1..1992
                     /gene="ADK"
                     /gene_synonym="AK"
                     /note="adenosine kinase"
                     /db_xref="GeneID:132"
                     /db_xref="HGNC:HGNC:257"
                     /db_xref="MIM:102750"
     exon            1..123
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1147
                     /gene="ADK"
                     /gene_synonym="AK"
                     /EC_number="2.7.1.20"
                     /note="isoform b is encoded by transcript variant 2;
                     adenosine 5'-phosphotransferase; testicular tissue protein
                     Li 14"
                     /codon_start=1
                     /product="adenosine kinase isoform b"
                     /protein_id="NP_006712.2"
                     /db_xref="CCDS:CCDS7343.1"
                     /db_xref="GeneID:132"
                     /db_xref="HGNC:HGNC:257"
                     /db_xref="MIM:102750"
                     /translation="MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDF
                     LDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAGGSTQNSIKVAQWMIQQPHKAAT
                     FFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANC
                     YKKEKHLDLEKNWMLVEKARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPF
                     ISQFYKESLMKVMPYVDILFGNETEAATFAREQGFETKDIKEIAKKTQALPKMNSKRQ
                     RIVIFTQGRDDTIMATESEVTAFAVLDQDQKEIIDTNGAGDAFVGGFLSQLVSDKPLT
                     ECIRAGHYAASIIIRRTGCTFPEKPDFH"
     exon            124..198
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     exon            199..252
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     exon            253..331
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     exon            332..504
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     exon            505..613
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     exon            614..784
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     exon            785..820
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     exon            821..935
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1022
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1992
                     /gene="ADK"
                     /gene_synonym="AK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1218..1223
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADK"
                     /gene_synonym="AK"
                     /note="hexamer: AATAAA"
     polyA_site      1241
                     /gene="ADK"
                     /gene_synonym="AK"
                     /note="major polyA site"
     regulatory      1383..1388
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADK"
                     /gene_synonym="AK"
                     /note="hexamer: AACAAG"
     polyA_site      1403
                     /gene="ADK"
                     /gene_synonym="AK"
     regulatory      1708..1713
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADK"
                     /gene_synonym="AK"
                     /note="hexamer: AATAAA"
     regulatory      1723..1728
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADK"
                     /gene_synonym="AK"
                     /note="hexamer: ATTAAA"
     regulatory      1727..1732
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADK"
                     /gene_synonym="AK"
                     /note="hexamer: AATAAT"
     polyA_site      1728
                     /gene="ADK"
                     /gene_synonym="AK"
                     /note="major polyA site"
     polyA_site      1740
                     /gene="ADK"
                     /gene_synonym="AK"
     polyA_site      1745
                     /gene="ADK"
                     /gene_synonym="AK"
     regulatory      1969..1974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADK"
                     /gene_synonym="AK"
                     /note="hexamer: AATAAA"
     polyA_site      1992
                     /gene="ADK"
                     /gene_synonym="AK"
ORIGIN      
        1 accagagagt ggatggcaga ggtgggctgt agagccaaag tggggtggga gcgcgaagat
       61 ggcagctgct gaggaggagc cgaagcccaa aaagctgaag gtggaggcgc cgcaagcgct
      121 gagagaaaat attctctttg gaatgggaaa tcctctgctt gacatctctg ctgtagtgga
      181 caaagatttc cttgataagt attctctgaa accaaatgac caaatcttgg ctgaagacaa
      241 acacaaggaa ctgtttgatg aacttgtgaa aaaattcaaa gtcgaatatc atgctggtgg
      301 ctctacccag aattcaatta aagtggctca gtggatgatt caacagccac acaaagcagc
      361 aacatttttt ggatgcattg ggatagataa atttggggag atcctgaaga gaaaagctgc
      421 tgaagcccat gtggatgctc attactacga gcagaatgag cagccaacag gaacttgtgc
      481 tgcatgcatc actggtgaca acaggtccct catagctaat cttgctgctg ccaattgtta
      541 taaaaaggaa aaacatcttg atctggagaa aaactggatg ttggtagaaa aagcaagagt
      601 ttgttatata gcaggctttt ttcttacagt ttccccagag tcagtattaa aggtggctca
      661 ccatgcttct gaaaacaaca ggattttcac tttgaatcta tctgcaccgt ttattagcca
      721 gttctacaag gaatcattga tgaaagttat gccttatgtt gatatacttt ttggaaatga
      781 gacagaagct gccacttttg ctagagagca aggctttgag actaaagaca ttaaagagat
      841 agccaaaaag acacaagccc tgccaaagat gaactcaaag aggcagcgaa tcgtgatctt
      901 cacccaaggg agagatgaca ctataatggc tacagaaagt gaagtcactg cttttgctgt
      961 cttggatcaa gaccagaaag aaattattga taccaatgga gctggagatg catttgttgg
     1021 aggttttctg tctcaactgg tctctgacaa gcctctgact gaatgtatcc gtgctggcca
     1081 ctatgcagca agcatcataa ttagacggac tggctgcacc tttcctgaga agccagactt
     1141 ccactgatgg aagagctgaa aacacaagcc caggagtgca gacactgccc taattgcttc
     1201 ctgagaattc ccatattaat aaagaagaaa attatctgcc attttttcct actataataa
     1261 tgctgaatct taatttagag ggtacaaggg tatggtaatg cttgtagaat ctttattatc
     1321 tcaacaatct aaaaaatgat gtttatttcc atagtttgat agtgccactt aaatgccaat
     1381 taaacaagaa tataacattt caatagaaat ttttatttca ttttcaatta ctttgtaaat
     1441 tcgtgtgtat ttagtacact gatttgtttt tttacatttc tgctttgaat gcagatgcaa
     1501 tttaatataa tagatttttt aatgaattaa tcttaacata gtaatcttta gctttttata
     1561 caaatatatt taatttagga gtatatgtgt gtctatacac acacatacat aaatatacca
     1621 catatacacc tgatagtcaa ataaggtaca gaaattttat cttgtcaatt atgccaaata
     1681 atctctttaa tgtgcactca aacatgtaat aaactttgga taattaaata atgtgccaaa
     1741 tttaagttgt accacaatat tcaaatcata gtcttatgga actctgtaat tggacacaaa
     1801 caaaaacttg tcatatagga atttttttct gtcttttccc tgtgtacagc aaactgagga
     1861 agaaagatca ttatttaata ctgggccctg aaatgacacc caatttgtta atggaattat
     1921 gaagaacagc aatataatac actgaagaat aacttagtat cagagaccaa taaatcactt
     1981 ttttaaggat ga
//
