LOCUS       NM_000476               2192 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens adenylate kinase 1 (AK1), transcript variant 1, mRNA.
ACCESSION   NM_000476
VERSION     NM_000476.3
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 2192)
  AUTHORS   Qin,T., Zhao,H., Shao,Y., Hu,N., Shi,J., Fu,L. and Zhang,Y.
  TITLE     High expression of AK1 predicts inferior prognosis in acute myeloid
            leukemia patients undergoing chemotherapy
  JOURNAL   Biosci Rep 40 (6) (2020)
   PUBMED   32519744
  REMARK    GeneRIF: High expression of AK1 predicts inferior prognosis in
            acute myeloid leukemia patients undergoing chemotherapy.
REFERENCE   2  (bases 1 to 2192)
  AUTHORS   Wang,H.S., Zhu,Y. and Sun,F.
  TITLE     [Expressions of the adenylate kinase family in asthenospermia]
  JOURNAL   Zhonghua Nan Ke Xue 25 (12), 1077-1082 (2019)
   PUBMED   32251557
  REMARK    GeneRIF: The mRNA and protein expressions of AK1, AK6 and AK7 are
            significantly down-regulated in the sperm of asthenospermia
            patients, which may be closely related with reduced sperm motility.
REFERENCE   3  (bases 1 to 2192)
  AUTHORS   Jan,Y.H., Lai,T.C., Yang,C.J., Huang,M.S. and Hsiao,M.
  TITLE     A co-expressed gene status of adenylate kinase 1/4 reveals
            prognostic gene signature associated with prognosis and sensitivity
            to EGFR targeted therapy in lung adenocarcinoma
  JOURNAL   Sci Rep 9 (1), 12329 (2019)
   PUBMED   31444368
  REMARK    GeneRIF: A co-expressed gene status of adenylate kinase 1/4 reveals
            prognostic gene signature associated with prognosis and sensitivity
            to EGFR targeted therapy in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2192)
  AUTHORS   Pienkowska,M., Choufani,S., Turinsky,A.L., Guha,T., Merino,D.M.,
            Novokmet,A., Brudno,M., Weksberg,R., Shlien,A., Hawkins,C.,
            Bouffet,E., Tabori,U., Gilbertson,R.J., Finlay,J.L., Jabado,N.,
            Thomas,C., Sill,M., Capper,D., Hasselblatt,M. and Malkin,D.
  TITLE     DNA methylation signature is prognostic of choroid plexus tumor
            aggressiveness
  JOURNAL   Clin Epigenetics 11 (1), 117 (2019)
   PUBMED   31409384
  REMARK    GeneRIF: Specific DNA methylation signatures for aggressive choroid
            plexus carcinoma (CPC) revealed AK1, PER2, and PLSCR4 as potential
            biomarkers for CPC that can be used to improve molecular
            stratification for diagnosis and treatment.
            Erratum:[Clin Epigenetics. 2019 Oct 21;11(1):144. doi:
            10.1186/s13148-019-0737-7.. PMID: 31639040]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2192)
  AUTHORS   Dongerdiye,R., Kamat,P., Jain,P., Warang,P., Devendra,R.,
            Wasekar,N., Sharma,R., Mhaskar,K., Madkaikar,M.R., Manglani,M.V.
            and Kedar,P.S.
  TITLE     Red cell adenylate kinase deficiency in India: identification of
            two novel missense mutations (c.71A>G and c.413G>A)
  JOURNAL   J Clin Pathol 72 (6), 393-398 (2019)
   PUBMED   30918013
  REMARK    GeneRIF: Case Reports: first case of adenylate kinase deficiency in
            Indian population due to novel AK1 mutations (c.71A>G and c.413G>A)
            associated with nonspherocytic haemolytic anaemia without
            psychomotor impairment.
REFERENCE   6  (bases 1 to 2192)
  AUTHORS   Matsuura,S., Igarashi,M., Tanizawa,Y., Yamada,M., Kishi,F.,
            Kajii,T., Fujii,H., Miwa,S., Sakurai,M. and Nakazawa,A.
  TITLE     Human adenylate kinase deficiency associated with hemolytic anemia.
            A single base substitution affecting solubility and catalytic
            activity of the cytosolic adenylate kinase
  JOURNAL   J Biol Chem 264 (17), 10148-10155 (1989)
   PUBMED   2542324
REFERENCE   7  (bases 1 to 2192)
  AUTHORS   Zuffardi,O., Caiulo,A., Maraschio,P., Tupler,R., Bianchi,E.,
            Amisano,P., Beluffi,G., Moratti,R. and Liguri,G.
  TITLE     Regional assignment of the loci for adenylate kinase to 9q32 and
            for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz
            syndrome in region 9q32-qter?
  JOURNAL   Hum Genet 82 (1), 17-19 (1989)
   PUBMED   2541064
REFERENCE   8  (bases 1 to 2192)
  AUTHORS   Allderdice,P.W., Kaita,H., Lewis,M., McAlpine,P.J., Wong,P.,
            Anderson,J. and Giblett,E.R.
  TITLE     Segregation of marker loci in families with an inherited
            paracentric insertion of chromosome 9
  JOURNAL   Am J Hum Genet 39 (5), 612-617 (1986)
   PUBMED   3024483
REFERENCE   9  (bases 1 to 2192)
  AUTHORS   Tsuboi,K.K.
  TITLE     AMP (dAMP) kinase from human erythrocytes
  JOURNAL   Methods Enzymol 51, 467-473 (1978)
   PUBMED   211388
REFERENCE   10 (bases 1 to 2192)
  AUTHORS   Von Zabern,I., Wittmann-Liebold,B., Untucht-Grau,R., Schirmer,R.H.
            and Pai,E.F.
  TITLE     Primary and tertiary structure of the principal human adenylate
            kinase
  JOURNAL   Eur J Biochem 68 (1), 281-290 (1976)
   PUBMED   183954
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157935.28.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_000476.2.
            
            Summary: This gene encodes an adenylate kinase enzyme involved in
            energy metabolism and homeostasis of cellular adenine nucleotide
            ratios in different intracellular compartments. This gene is highly
            expressed in skeletal muscle, brain and erythrocytes. Certain
            mutations in this gene resulting in a functionally inadequate
            enzyme are associated with a rare genetic disorder causing
            nonspherocytic hemolytic anemia. Alternative splicing of this gene
            results in multiple transcript variants encoding different
            isoforms. This gene shares readthrough transcripts with the
            upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the shorter isoform (1). Both variants 1 and
            2 encode the same protein (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: EU794628.1, SRR14038196.476312.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644144.2/ ENSP00000494600.1
            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
            1-53                AL157935.28        50956-51008         c
            54-92               AL157935.28        47944-47982         c
            93-128              AL157935.28        46359-46394         c
            129-292             AL157935.28        46023-46186         c
            293-409             AL157935.28        45156-45272         c
            410-601             AL157935.28        41654-41845         c
            602-2192            AL157935.28        39819-41409         c
FEATURES             Location/Qualifiers
     source          1..2192
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2192
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /note="adenylate kinase 1"
                     /db_xref="GeneID:203"
                     /db_xref="HGNC:HGNC:361"
                     /db_xref="MIM:103000"
     exon            1..53
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /inference="alignment:Splign:2.1.0"
     exon            54..92
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..670
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /EC_number="2.7.4.3"
                     /EC_number="2.7.4.6"
                     /EC_number="2.7.4.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     adenylate kinase isoenzyme 1; myokinase; ATP-AMP
                     transphosphorylase 1; ATP:AMP phosphotransferase;
                     adenylate monophosphate kinase; testis secretory sperm
                     binding protein Li 58j; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="adenylate kinase isoenzyme 1 isoform 1"
                     /protein_id="NP_000467.1"
                     /db_xref="CCDS:CCDS6881.1"
                     /db_xref="GeneID:203"
                     /db_xref="HGNC:HGNC:361"
                     /db_xref="MIM:103000"
                     /translation="MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLR
                     SEVSSGSARGKKLSEIMEKGQLVPLETVLDMLRDAMVAKVNTSKGFLIDGYPREVQQG
                     EEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPV
                     IAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK"
     exon            93..128
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /inference="alignment:Splign:2.1.0"
     exon            129..292
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /inference="alignment:Splign:2.1.0"
     exon            293..409
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /inference="alignment:Splign:2.1.0"
     exon            410..601
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /inference="alignment:Splign:2.1.0"
     exon            602..2192
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /inference="alignment:Splign:2.1.0"
     regulatory      818..823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /note="hexamer: ACTAAA"
     polyA_site      839
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /note="major polyA site"
     regulatory      2169..2174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
                     /note="hexamer: AATAAA"
     polyA_site      2192
                     /gene="AK1"
                     /gene_synonym="ADK; Adk1; CNSHA3; HTL-S-58j"
ORIGIN      
        1 gaggacgggc agggcacgca ctggccccgg cgcccacccg cacccctccc cagagcactg
       61 acacggctcc cgggacctcg gcaggatgga agagaagctg aagaaaacca agatcatctt
      121 tgtggtgggt gggcctggct cagggaaggg cacccagtgt gagaagatcg tgcagaagta
      181 tggctacacc cacctctcca ccggggacct cctgcggtcc gaggtcagct caggctcggc
      241 caggggcaag aagctgtcgg aaatcatgga gaaggggcag ctggttccac tggagacagt
      301 gttggacatg ctccgggatg ccatggtggc caaagtcaat acttccaaag gcttcctgat
      361 tgatggctac ccgcgggagg tgcagcaagg agaagagttt gagcgacgga ttggacagcc
      421 cacactgctg ctgtatgtgg acgcaggccc tgagaccatg acccagcggc tcttgaaacg
      481 tggagagacc agcgggcgtg tggacgacaa tgaggagacc atcaaaaagc ggctggagac
      541 ctattacaag gccacagaac ctgtcatcgc cttctatgag aaacgtggca ttgtgcgcaa
      601 ggtcaacgct gagggctccg tggacagtgt cttctcccag gtctgcaccc acctggacgc
      661 cctaaagtag caacgctgga gccgcttccc cagctcagag ccccgcccca ccccgtcctg
      721 attcgaggtc ctcctggcct gagcgcagcg cctccaccct gccctgctga gcacagacgg
      781 aggaagccgc ttatcctgtt ttcatggaca gctgagcact aaaggaattt ctaaggacat
      841 ttggttttac tgctttttct ctgcttccag ttggagttga ttcatgtgct tgtgcctacc
      901 tggccgcaag tccccagccc ctcaaccctc cgttcctcct cagcctccct ttgccagcca
      961 cccctcctct agctctggtg ggaggcccgg ggcccttcct cgcacagggc atgcctggcc
     1021 tgaggacccg gcgctgagtg gcggggcccc tgctccgagg ggctcatgtt caggcagaac
     1081 cggtcccagc ctgggctcct ctgcatcttg ctctgtggcc ttggccctga cccccatcgc
     1141 tctgagcata tgttccatgc ctggcccttg ccggggcctg gactgcacag gcagcaaggt
     1201 catggtctga gtggggcttc ctgggcagtt ggggcggccc acgccagctg gcccagtggg
     1261 tagtgaattg gcttccttga cgcgagaggc tctgagggtc tgaaaagggc atctcaatgg
     1321 catgggtggg tggggagtca gtcatgtcac tgaaattgaa tgggggaggc ccaatgaggt
     1381 ggctcatgcc tgtaatccca gcactttggg aagctgaggc aggaggatcc cctgaggtca
     1441 ggagttcgag agcagcctgg ccaacatggc aaaacccctt atttactaaa aatacaaaaa
     1501 ttagccgggc atggtggcat gtgcctgtat tcccagctac tcatgaggct gaggcaggag
     1561 aatggcgtga acccgggagg tggagcttgc aatgagccaa gattgcgcca ctgcactcca
     1621 gcctgggtga cagagcaaga ctccgtctca aaaaaaaaaa aaaaaaaaaa gaaattgaat
     1681 tgggggagtc atggtcaggg gtgagacctg aaggacctcc ccctgtgtgg ccctggacac
     1741 agcccaccct ctgtgagccg tttccaattc taaaacagac tcaatgtccc cctcaccccc
     1801 acctcaaggt caggatgaga acacactgag tgaggagtgg acgctgtcca ttgccacggc
     1861 catgagggct ggagaccaga acagcatggc ccgaagcgtg cggggccccg gatgacttgg
     1921 ggacacccca gaatcccctg gggagaaccc ttcctgcgcg ctttcatttt ttgacctcat
     1981 cactgagaaa ggctcaattt ggtgctcacg tgtccttaac acctgatctg gcccaagctg
     2041 ggctcccttt aagccaagag agcctcttgt ggaccccgcc tgcccgaatg aaatccgaac
     2101 agttggggct gttcatggca agtggggctg gtttttcatt tccattggtt atttaaagtt
     2161 tcctttaaaa taaacgattt taagttataa aa
//
