LOCUS       NM_013410               6845 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens adenylate kinase 4 (AK4), transcript variant 2, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_013410 NM_001002921
VERSION     NM_013410.4
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 6845)
  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 6845)
  AUTHORS   Wujak,M., Veith,C., Wu,C.Y., Wilke,T., Kanbagli,Z.I.,
            Novoyatleva,T., Guenther,A., Seeger,W., Grimminger,F., Sommer,N.,
            Schermuly,R.T. and Weissmann,N.
  TITLE     Adenylate Kinase 4-A Key Regulator of Proliferation and Metabolic
            Shift in Human Pulmonary Arterial Smooth Muscle Cells via Akt and
            HIF-1alpha Signaling Pathways
  JOURNAL   Int J Mol Sci 22 (19), 10371 (2021)
   PUBMED   34638712
  REMARK    GeneRIF: Adenylate Kinase 4-A Key Regulator of Proliferation and
            Metabolic Shift in Human Pulmonary Arterial Smooth Muscle Cells via
            Akt and HIF-1alpha Signaling Pathways.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6845)
  AUTHORS   Tan,H., Wu,C., Huang,B., Jin,L. and Jiang,X.
  TITLE     MiR-3666 serves as a tumor suppressor in ovarian carcinoma by
            down-regulating AK4 via targeting STAT3
  JOURNAL   Cancer Biomark 30 (4), 355-363 (2021)
   PUBMED   33361582
  REMARK    GeneRIF: MiR-3666 serves as a tumor suppressor in ovarian carcinoma
            by down-regulating AK4 via targeting STAT3.
REFERENCE   4  (bases 1 to 6845)
  AUTHORS   Panayiotou,C., Solaroli,N., Johansson,M. and Karlsson,A.
  TITLE     Evidence of an intact N-terminal translocation sequence of human
            mitochondrial adenylate kinase 4
  JOURNAL   Int J Biochem Cell Biol 42 (1), 62-69 (2010)
   PUBMED   19766732
  REMARK    GeneRIF: The AK4 cDNA was expressed in Escherichia coli and the
            substrate specificity and kinetic properties of the recombinant
            protein were characterized.
REFERENCE   5  (bases 1 to 6845)
  AUTHORS   Liu,R., Xu,H., Wei,Z., Wang,Y., Lin,Y. and Gong,W.
  TITLE     Crystal structure of human adenylate kinase 4 (L171P) suggests the
            role of hinge region in protein domain motion
  JOURNAL   Biochem Biophys Res Commun 379 (1), 92-97 (2009)
   PUBMED   19073142
  REMARK    GeneRIF: To investigate the role of hinge IV, crystal structure of
            human adenylate kinase 4 (AK4) L171P mutant was determined.
REFERENCE   6  (bases 1 to 6845)
  AUTHORS   Noma,T., Adachi,N. and Nakazawa,A.
  TITLE     Cloning and functional characterization of the promoter region of
            the gene encoding human adenylate kinase isozyme 3
  JOURNAL   Biochem Biophys Res Commun 264 (3), 990-997 (1999)
   PUBMED   10544043
REFERENCE   7  (bases 1 to 6845)
  AUTHORS   Yoneda,T., Sato,M., Maeda,M. and Takagi,H.
  TITLE     Identification of a novel adenylate kinase system in the brain:
            cloning of the fourth adenylate kinase
  JOURNAL   Brain Res Mol Brain Res 62 (2), 187-195 (1998)
   PUBMED   9813319
REFERENCE   8  (bases 1 to 6845)
  AUTHORS   Xu,G., O'Connell,P., Stevens,J. and White,R.
  TITLE     Characterization of human adenylate kinase 3 (AK3) cDNA and mapping
            of the AK3 pseudogene to an intron of the NF1 gene
  JOURNAL   Genomics 13 (3), 537-542 (1992)
   PUBMED   1639383
REFERENCE   9  (bases 1 to 6845)
  AUTHORS   Robson,E.B. and Meera Khan,P.
  TITLE     Report of the committee on the genetic constitution of chromosomes
            7, 8, and 9. Oslo Conference (1981): Sixth International Workshop
            on Human Gene Mapping
  JOURNAL   Cytogenet Cell Genet 32 (1-4), 144-152 (1982)
   PUBMED   7140357
REFERENCE   10 (bases 1 to 6845)
  AUTHORS   Povey,S., Slaughter,C.A., Wilson,D.E., Gormley,I.P., Buckton,K.E.,
            Perry,P. and Bobrow,M.
  TITLE     Evidence for the assignment of the loci AK1, AK3 and ACONs to
            chromosome 9 in man
  JOURNAL   Ann Hum Genet 39 (4), 413-422 (1976)
   PUBMED   182062
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB061266.1, BC040224.1 and
            AL356212.13.
            
            On Nov 22, 2018 this sequence version replaced NM_013410.3.
            
            Summary: This gene encodes a member of the adenylate kinase family
            of enzymes. The encoded protein is localized to the mitochondrial
            matrix. Adenylate kinases regulate the adenine and guanine
            nucleotide compositions within a cell by catalyzing the reversible
            transfer of phosphate group among these nucleotides. Five isozymes
            of adenylate kinase have been identified in vertebrates. Expression
            of these isozymes is tissue-specific and developmentally regulated.
            A pseudogene for this gene has been located on chromosome 17. Three
            transcript variants encoding the same protein have been identified
            for this gene. Sequence alignment suggests that the gene defined by
            NM_013410, NM_203464, and NM_001005353 is located on chromosome 1.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
            
            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 :: AK025926.1, SRR1660809.187659.1
                                           [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. :: inferred from homology
            MANE Ensembl match                 :: ENST00000327299.8/
                                                  ENSP00000322175.7
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-269               DB061266.1         37-305
            270-1526            BC040224.1         182-1438
            1527-6845           AL356212.13        6686-12004
FEATURES             Location/Qualifiers
     source          1..6845
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..6845
                     /gene="AK4"
                     /gene_synonym="AK 4; AK3; AK3L1; AK3L2"
                     /note="adenylate kinase 4"
                     /db_xref="GeneID:205"
                     /db_xref="HGNC:HGNC:363"
                     /db_xref="MIM:103030"
     exon            1..350
                     /gene="AK4"
                     /gene_synonym="AK 4; AK3; AK3L1; AK3L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             206..877
                     /gene="AK4"
                     /gene_synonym="AK 4; AK3; AK3L1; AK3L2"
                     /EC_number="2.7.4.6"
                     /EC_number="2.7.4.4"
                     /note="isoform a is encoded by transcript variant 2;
                     adenylate kinase 3-like 1;
                     nucleoside-triphosphate-adenylate kinase; ATP-AMP
                     transphosphorylase; mitochondrial adenylate kinase-3;
                     adenylate kinase isoenzyme 4, mitochondrial; GTP:AMP
                     phosphotransferase AK4, mitochondrial; adenylate kinase 4,
                     mitochondrial; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="adenylate kinase 4, mitochondrial isoform a"
                     /protein_id="NP_037542.1"
                     /db_xref="CCDS:CCDS629.1"
                     /db_xref="GeneID:205"
                     /db_xref="HGNC:HGNC:363"
                     /db_xref="MIM:103030"
                     /translation="MASKLLRAVILGPPGSGKGTVCQRIAQNFGLQHLSSGHFLRENI
                     KASTEVGEMAKQYIEKSLLVPDHVITRLMMSELENRRGQHWLLDGFPRTLGQAEALDK
                     ICEVDLVISLNIPFETLKDRLSRRWIHPPSGRVYNLDFNPPHVHGIDDVTGEPLVQQE
                     DDKPEAVAARLRQYKDVAKPVIELYKSRGVLHQFSGTETNKIWPYVYTLFSNKITPIQ
                     SKEAY"
     exon            351..470
                     /gene="AK4"
                     /gene_synonym="AK 4; AK3; AK3L1; AK3L2"
                     /inference="alignment:Splign:2.1.0"
     exon            471..643
                     /gene="AK4"
                     /gene_synonym="AK 4; AK3; AK3L1; AK3L2"
                     /inference="alignment:Splign:2.1.0"
     exon            644..762
                     /gene="AK4"
                     /gene_synonym="AK 4; AK3; AK3L1; AK3L2"
                     /inference="alignment:Splign:2.1.0"
     exon            763..6845
                     /gene="AK4"
                     /gene_synonym="AK 4; AK3; AK3L1; AK3L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6814..6819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK4"
                     /gene_synonym="AK 4; AK3; AK3L1; AK3L2"
                     /note="hexamer: AATAAA"
     polyA_site      6845
                     /gene="AK4"
                     /gene_synonym="AK 4; AK3; AK3L1; AK3L2"
                     /note="major polyA site"
ORIGIN      
        1 agtccgcctg ctactcggtc ccggcgctgg gctgagggga ggggttgtct taaaagtctc
       61 tccttccccc tgtaggggcg gccggcgagt cccagtgaga gcggagggtg ccagaggtag
      121 ggggccgaga aacaaagttc ccggggcttc ctccggggcc gcggtcgggg ctgcgcgttt
      181 gaccgccccc ctcctcgcga aggcaatggc ttccaaactc ctgcgcgcgg tcatcctcgg
      241 gccgcccggc tcgggcaagg gcaccgtgtg ccagaggatc gcccagaact ttggtctcca
      301 gcatctctcc agcggccact tcttgcggga gaacatcaag gccagcaccg aagttggtga
      361 gatggcaaag cagtatatag agaaaagtct tttggttcca gaccatgtga tcacacgcct
      421 aatgatgtcc gagttggaga acaggcgtgg ccagcactgg ctccttgatg gttttcctag
      481 gacattagga caagccgaag ccctggacaa aatctgtgaa gtggatctag tgatcagttt
      541 gaatattcca tttgaaacac ttaaagatcg tctcagccgc cgttggattc accctcctag
      601 cggaagggta tataacctgg acttcaatcc acctcatgta catggtattg atgacgtcac
      661 tggtgaaccg ttagtccagc aggaggatga taaacccgaa gcagttgctg ccaggctaag
      721 acagtacaaa gacgtggcaa agccagtcat tgaattatac aagagccgag gagtgctcca
      781 ccaattttcc ggaacggaga cgaacaaaat ctggccctac gtttacacac ttttctcaaa
      841 caagatcaca cctattcagt ccaaagaagc atattgaccc tgcccaatgg aagaaccagg
      901 aagatgtggt cattcattca atagtgtgtg tagtattggt gctgtgtcca aattagaagc
      961 tagctgaggt agcttgcagc atcttttcta gttgaaatgg tgaactgata ggaaaacaaa
     1021 tgagtagaaa gagttcatga agaggccctc ctctgccttt caaaaggctg gtcacctaca
     1081 catgtttaag gtgtctctgc acatgtctca agcccatcac aagaaagcaa gtacagtgtg
     1141 gatttcaaat ggtgtgtaac ttcagctcca gctggttttt gacagctgtt gctgtggtaa
     1201 tatttttgac atgtgatggt gatagtctct ggttctcccc atccccacaa aggctgttga
     1261 accacagcac caggaagcct gagaatgaat cctgagggct ctagcccagg ctttgtccca
     1321 ggctttctgg tgtgtgccct cctggtaaca gtgaaattga agctacttac tcatagtggt
     1381 tgtttctctg gtcttgagtg actgtgtcca cagttcattt ttttccggta ggaataactc
     1441 cttttctaca tccacgctcc atagagtctc tccttttcag acatcctggg atgaaagaat
     1501 ttggcttttt tttttctttt tttttttgga catctgtttt cactcttagg cttttaaaca
     1561 atagttattg cttttatccc tctcagattc taataactga gagcgatggg gctatattga
     1621 atctctgtat gcactgagaa ctgagctatg aagaggatct tattaaactg ctggtctgac
     1681 tttatggatt gacactgttc ctttctttta ttgtgaaaaa aaaaaaaaac cctgaaagtc
     1741 ttgggaaccc cctaaagtct tttgggaatc ctcaaaaagc atgggaagtt aagtatttag
     1801 ctacataaat gttgtaagat catatcttat gtatagaagt aataagacca tttggaatta
     1861 ctggactaat tgaatagtta aggtttctat tcgggacaat aaaatgtatt ttgaaagtgc
     1921 tgctaactat tgatgctgac agtgtttcac tcctatgagt gacccaaaca tattataaat
     1981 atgtggtaaa gggaatggag cctgtggggt tgagcagaat gttgtactag ctgtgcctgg
     2041 actgagtata acagctttat gattatgaga aaacaaattc tttatttttt ttttctgttc
     2101 caaagattca tcctatgggg tggccataaa gtctagaatt agatactaat attttgtcat
     2161 tcattataac atatcaataa accatttgtt aaaagatttg cctggtttcc agacttggtg
     2221 gccaccttga ataattcttg ctgtcttctg ggaaggatga tgaaatttat tcctgctgcc
     2281 ttaaaaatat gtatcccttc ttcacccatc atgactgtcc ccagtgagtg tcctttacta
     2341 ttcttgggag tgactcctgt ctaacttttc atactggcga gaagaaaaga agcctatttt
     2401 aacactttag tggtgttgaa acacattact tactttctga agatgtccca gtgaatcctc
     2461 tgtcaattca ctgccatatg taatctatat gataaggaat gcatcttcct tctaagtact
     2521 gcccaaactc ttgccagctc ctctcccatt gtcccttcat gtgaatattt cttggctacc
     2581 ttagtggaaa tatagatcag ttttctcccc atccatcctc tcaaacataa tgagattgtt
     2641 tactttttag atttatgcag tgaaaatgcc cagtcaggtc tgaatcgtca gtgcattata
     2701 ttgactctga gcactttaga atttagagtt gcaattgaat gccagctgtg gagatggggt
     2761 gcatatcaga tatataaata aagctcaggt ttgctaggga accaggtata gagaaaaata
     2821 agtctgatat gaggaaaatt gcacaattta gagtagttat gccgtagaga aaatttccac
     2881 aaactaggaa atgtagagag ttattctata gaatactcaa aagaggaaag tatgtgattt
     2941 ttggaaacag gaaaatcttc aaacttcttt cttcacttcc ctttgtgttt agctgaccct
     3001 ccaatgtgat cattgccttt ggagtttggg agaggtacgg gaagtggcct gatccctgct
     3061 tccatacttc actcctccat ccatccttcc ctccctcttc ccctccagct aaatggacaa
     3121 ttctagccaa cattgagtca ctcaataagt ctcaacagtg ggtgtgtttg ctgagattgt
     3181 ccagcggttg agcagtttgg tctcacctcc ctcgctagtt gagaccaaaa agagacaaat
     3241 aactttttca tggtctttga aacataatgc ttatttcgtg gtcaatggct ttaaaaaaat
     3301 ctgtttcttg ttttcttcaa caaactcact agttttccct taaatgatat tgtaaaaatt
     3361 aaagtaatct tgaaaatgtt ttgacaaaag taaaattaaa gggacatctt ttcttgtttt
     3421 gttttttttt tttctattgc cacacatgac cgttccttca cctttaagca aagagagtgg
     3481 ttcagatggt ttctaagatg ccaacctgac ctcgcattct gtcattctac ccagctctta
     3541 attcaatttg cttccattat cctaacaggc ttctttctta cttagaactt ggaaaggctg
     3601 ctgtatttaa taccctccaa cactaacgca gacttaagat aggtactgtt tattgaaaac
     3661 ctactgagtg aaatgtgcgg ttttaggacc ttcataaaca tctcatttaa tctttctagc
     3721 atcctgtgaa acagccatga tttcacgttg ataaacaaag aagacagggg tcccagggat
     3781 gtgaagcatc ttgcccaggc ttctgctgct ggtgaccagt gtagccagga ctccagccca
     3841 ggttttcctg actcagaaga ctgagctttt tcctggatgt tattaatagc taattgtgtc
     3901 caagcaacca agggccttga gtctgcttgg ttctgcttat ggcctcacat caagaaatgg
     3961 agctagtcca tgtctgtagt cccaatgctt tgggaagcca tgatgggaag gttgtcggag
     4021 gccaaaagtt caagaccagg ctgggcaata tcacaagact ccatctctac ggaaaagtaa
     4081 aaaattagcc agtcatggtg gtgtacactt atggtcctag ttactcagga gacttaggca
     4141 ggaggattgc ttgatcctag gaattcgagg ctgcagtgag ctatgattgc acctctgcac
     4201 ccaagcctgg gcgacacagc gagaccctct ctcttaaaaa aaaaaaatag cagagctcac
     4261 caaagtgatg ttcacctttt tatgacattc ctttttctta gcttaagaaa agaaagctgc
     4321 tagatgagag tcttagtttt cctgcataag acctccttta tgaatagaat aaaagactgt
     4381 caaagtaggc tgggcttggg cccaggctaa tctatgaagg aagcaagctc gtgttcctta
     4441 cctatccttt tggtgtccat tggattgtgc cccgaagtgg cctttaccct tgagccgtcc
     4501 ccagccatgg tgctcacaca taggcttttg agctccttgg agctatccag atcctgctca
     4561 cttttccttc ctgagatcag aacaaatcac ccccttactc ccactccaaa caaggccttg
     4621 atgataaact aatccttcct aaaatgctgg taggtaaaca agcaatgatg aagcattgaa
     4681 cacaggttaa ctcctgactt ttgtaccatt gtctattcca ttacacatta acatgactct
     4741 gaatgccaga tccaaacctt tgcccaccat ctgcttgtcg tgcaacagtt gaggcagtaa
     4801 ccaggggaga ttcacttcct gtcttgtcct tccccaggga tcacccccct gctgccctct
     4861 agcagccaaa ctcagatgag ttccattgtt accctaggtg tgcccatctc tttggtaggg
     4921 aaggagaaag gtaagaatag ccatcagtga ggaaggattc ttggagcgag gagccactgt
     4981 ggtttttcct gctatttaag atgttgagac cggataactt tagaaagata cctgcacaaa
     5041 cccataaata gtgcttttat aaagtttagt tcaccggaac ctgagttcag tatttgacat
     5101 tagctttttg tccaaagagt tgaagcctgc tggaggtctt tgctcaaata ataaatacca
     5161 catatttcca agtgtgttca ggtataggca ctaggtactg tctgtttact tcatgttagg
     5221 cacattacat gcattggcta atcaaatcct catcaattac atatgtaata atctaaactt
     5281 gcctccttgt attataaatg gaaataatcc tgtttattta aacgggtttt catgtacctg
     5341 tagggattag gaaactcaaa tggccttttt aatacctttc cctagtttga gctccctgtt
     5401 ctctttaaca gataaaacaa catatttgct tcagcctgga atctgttttt ggtgctttgg
     5461 tgcagagaca ggaaatgggc actcagagtc acactggtag ttgcacactg tatctacaga
     5521 gggcgtgtct catctgtact ctgctgggtt acaggatttc agtaggtatt tgtgtccacc
     5581 tgagaattct gtttattacc tttcatttga cagtgtcttt cctttctgca gttgattttg
     5641 ctagagaggc aattcataag gtgaggtcct gttcatagta tgacttgctt tctcaatatc
     5701 tccttcaatt tttagtaact cttggtctat ttggtgtctt taaaaaaaat aacctagtaa
     5761 taaagacttc ttttaatgtg gaaatgtggt ctggtagtaa gttatttctt tccacatgta
     5821 actgacccaa tctggtttcc aaatgagaag tgtgcaggcc ccagaggttg agaagccata
     5881 tttcaactgt gaaaaaaatc tgcttcctgc atctgttgaa atatagttgt tcatacttgc
     5941 catcccttat ctttcttgta acaatttgca cagttcttgc cagaataaat gccattatct
     6001 gtatgtttca gggagttccc caatttgatc atttttgtgt gtgtgtggtg tgtgtgtgag
     6061 agagagagat actgcagtaa aacatttcta aaggatgaaa gctcttgtat ggcatagata
     6121 tgaattcctt cctctggtaa taattaggtt attcccagaa gcacagtgtc attctttaaa
     6181 taaaagcttt cctgtttaaa gcttttcaaa ggagcagacc accttgaaga ttccccctag
     6241 ggttgatatg tgtctaattc attttataaa aattattctt gtcttcattt taaagctttg
     6301 gctatatagt cagaaatgtc ctaaataaca aactattttg tatttaattt agggaagact
     6361 aaagggaaga aaaatgaaaa ctcagtcttt atgtaagctc caaggatatt agggcttaaa
     6421 gggcttttct agttttatga gaatttgtac tactgatttt tatatattcc tgtttttgag
     6481 atgaacagat ctctggggaa attgttgagt tacaatggca tttcactgtg atccctctca
     6541 agctcagatc agttctataa cccaatgaca acctgtctct ttggtttact gtcctgtgaa
     6601 atgtcagctc aagtttccca gaagtcgtgt gtttatgatg agtcagagtg cttttcctcg
     6661 gtgggacagt tgctggccct cttaattttg gtgtatgtgc ttccaagtat ctaaacctcc
     6721 agtctgatct gtatatgcta tcctaactgt taattgtatt attgattatg ttgattatct
     6781 tgcttgaagg ttcatacttt tcaatttgat agaaataaag tttttttctg cttatagcta
     6841 gcgaa
//
