LOCUS       NM_016282               4219 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens adenylate kinase 3 (AK3), transcript variant 1, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_016282
VERSION     NM_016282.4
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 4219)
  AUTHORS   Fujisawa,K., Wakazaki,M., Matsuzaki,A., Matsumoto,T., Yamamoto,N.,
            Noma,T. and Takami,T.
  TITLE     Adenylate Kinase Isozyme 3 Regulates Mitochondrial Energy
            Metabolism and Knockout Alters HeLa Cell Metabolism
  JOURNAL   Int J Mol Sci 23 (8), 4316 (2022)
   PUBMED   35457131
  REMARK    GeneRIF: Adenylate Kinase Isozyme 3 Regulates Mitochondrial Energy
            Metabolism and Knockout Alters HeLa Cell Metabolism.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4219)
  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   3  (bases 1 to 4219)
  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   4  (bases 1 to 4219)
  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   5  (bases 1 to 4219)
  AUTHORS   Brea-Fernandez,A.J., Fernandez-Rozadilla,C., Alvarez-Barona,M.,
            Azuara,D., Ginesta,M.M., Clofent,J., de Castro,L., Gonzalez,D.,
            Andreu,M., Bessa,X., Llor,X., Xicola,R., Jover,R., Castells,A.,
            Castellvi-Bel,S., Capella,G., Carracedo,A. and Ruiz-Ponte,C.
  TITLE     Candidate predisposing germline copy number variants in early onset
            colorectal cancer patients
  JOURNAL   Clin Transl Oncol 19 (5), 625-632 (2017)
   PUBMED   27888432
  REMARK    GeneRIF: These findings suggest that AK3 and SLIT2 may be potential
            candidates involved in genetic susceptibility to colorectal cancer
REFERENCE   6  (bases 1 to 4219)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   7  (bases 1 to 4219)
  AUTHORS   Noma,T., Fujisawa,K., Yamashiro,Y., Shinohara,M., Nakazawa,A.,
            Gondo,T., Ishihara,T. and Yoshinobu,K.
  TITLE     Structure and expression of human mitochondrial adenylate kinase
            targeted to the mitochondrial matrix
  JOURNAL   Biochem J 358 (Pt 1), 225-232 (2001)
   PUBMED   11485571
REFERENCE   8  (bases 1 to 4219)
  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   9  (bases 1 to 4219)
  AUTHORS   Tomasselli,A.G. and Noda,L.H.
  TITLE     Mitochondrial GTP-AMP phosphotransferase. 2. Kinetic and
            equilibrium dialysis studies
  JOURNAL   Eur J Biochem 93 (2), 263-267 (1979)
   PUBMED   218813
REFERENCE   10 (bases 1 to 4219)
  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 AK001553.1, AL136231.12,
            AF100785.1 and BX640794.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016282.3.
            
            Summary: The protein encoded by this gene is a GTP:ATP
            phosphotransferase that is found in the mitochondrial matrix.
            Several transcript variants encoding a few different isoforms have
            been found for this gene. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1 and 4
            both 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 :: SRR1803614.217486.1,
                                           SRR1660805.175169.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000381809.8/
                                                  ENSP00000371230.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1827              AK001553.1         26-1852
            1828-1828           AL136231.12        150877-150877       c
            1829-2617           AF100785.1         1714-2502
            2618-4160           AL136231.12        148545-150087       c
            4161-4219           BX640794.1         2085-2143
FEATURES             Location/Qualifiers
     source          1..4219
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     gene            1..4219
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /note="adenylate kinase 3"
                     /db_xref="GeneID:50808"
                     /db_xref="HGNC:HGNC:17376"
                     /db_xref="MIM:609290"
     exon            1..266
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..799
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /EC_number="2.7.4.10"
                     /note="isoform a is encoded by transcript variant 1;
                     adenylate kinase 6, adenylate kinase 3 like 1; GTP:AMP
                     phosphotransferase, mitochondrial; adenylate kinase 3
                     alpha-like 1; GTP:AMP phosphotransferase AK3,
                     mitochondrial; adenylate kinase isozyme 3"
                     /codon_start=1
                     /product="GTP:AMP phosphotransferase AK3, mitochondrial
                     isoform a"
                     /protein_id="NP_057366.2"
                     /db_xref="CCDS:CCDS6455.1"
                     /db_xref="GeneID:50808"
                     /db_xref="HGNC:HGNC:17376"
                     /db_xref="MIM:609290"
                     /translation="MGASARLLRAVIMGAPGSGKGTVSSRITTHFELKHLSSGDLLRD
                     NMLRGTEIGVLAKAFIDQGKLIPDDVMTRLALHELKNLTQYSWLLDGFPRTLPQAEAL
                     DRAYQIDTVINLNVPFEVIKQRLTARWIHPASGRVYNIEFNPPKTVGIDDLTGEPLIQ
                     REDDKPETVIKRLKAYEDQTKPVLEYYQKKGVLETFSGTETNKIWPYVYAFLQTKVPQ
                     RSQKASVTP"
     exon            267..386
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /inference="alignment:Splign:2.1.0"
     exon            387..559
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /inference="alignment:Splign:2.1.0"
     exon            560..678
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /inference="alignment:Splign:2.1.0"
     exon            679..4219
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2478..2483
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /note="hexamer: AATAAA"
     polyA_site      2497
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /note="major polyA site"
     regulatory      2597..2602
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /note="hexamer: AATAAA"
     polyA_site      2616
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /note="major polyA site"
     regulatory      4194..4199
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
                     /note="hexamer: AATAAA"
     polyA_site      4219
                     /gene="AK3"
                     /gene_synonym="AK3L1; AK6; AKL3L; AKL3L1; FIX"
ORIGIN      
        1 agtagccgcc tgctagtggc gctgctagcc ggccggcgca ggctgccgag cgggtgagcg
       61 cgcaggccag gccaaagccc tggtacccgc gcggtgcggg cctcagtctg cggccatggg
      121 ggcgtccgcg cggctgctgc gagcggtgat catgggggcc ccgggctcgg gcaagggcac
      181 cgtgtcgtcg cgcatcacta cacacttcga gctgaagcac ctctccagcg gggacctgct
      241 ccgggacaac atgctgcggg gcacagaaat tggcgtgtta gccaaggctt tcattgacca
      301 agggaaactc atcccagatg atgtcatgac tcggctggcc cttcatgagc tgaaaaatct
      361 cacccagtat agctggctgt tggatggttt tccaaggaca cttccacagg cagaagccct
      421 agatagagct tatcagatcg acacagtgat taacctgaat gtgccctttg aggtcattaa
      481 acaacgcctt actgctcgct ggattcatcc cgccagtggc cgagtctata acattgaatt
      541 caaccctccc aaaactgtgg gcattgatga cctgactggg gagcctctca ttcagcgtga
      601 ggatgataaa ccagagacgg ttatcaagag actaaaggct tatgaagacc aaacaaagcc
      661 agtcctggaa tattaccaga aaaaaggggt gctggaaaca ttctccggaa cagaaaccaa
      721 caagatttgg ccctatgtat atgctttcct acaaactaaa gttccacaaa gaagccagaa
      781 agcttcagtt actccatgag gagaaatgtg tgtaactatt aatagtaaga tgggcaaacc
      841 tcctagtcct tgcatttaga agctgctttt cctaagactt ctagtatgta tgaattcttt
      901 gaaaattata ttacttttat ttctactgat tttattttgg atactaagga tgtgccaaat
      961 gattcggata ctaagatgca tcgtttgaaa tcatctagtg tgttgtatgc agttatcctc
     1021 aaaaacatca gcgatgtctg aacctttaaa acatctgtta gagcaaaatt aaaagagcat
     1081 ttggtagtaa tctaactttt tgttcagtta ataagtggtt gataaagttt ccatattttt
     1141 ctggaaaagt taaaaaaagt tacatgtcat ttggagaaaa tacgtaatca gaaatttgtg
     1201 catagattga tgccaaaaaa gacatttcca gcattgtgga acatggtgag acactatata
     1261 aaattccaga aagaaagcaa ctggatttac agatttattg tgagacacaa attcactgct
     1321 gcctttacac taagaaatgt atatgttaac catatatgct gtatttattt tgtcgttaag
     1381 catactttca gtttactcag aattttcaat ttgctataaa gatgtatcaa ttagcatata
     1441 gaaaaatatt actttaagat gacttgtttc ctttgaaaat acctgtgtac tgagggttat
     1501 gatttgtgtc aaaaattgac ataagtgctt ttacaagcac caaagttgaa tgaattttca
     1561 acaaaatgta attaaagtct atgttttcag ttatgactca ggttaagaaa tgtgttttag
     1621 gatctacttg ctggtttttc tttttgatcc aaatgtgtga tctgccctga taaataacaa
     1681 gttatagtac catctccccc gccaataaaa aagagaagaa aaaagagaaa cccgtggcac
     1741 tatgtaaata aagtaagcat actttgttgt tagtaaatag atgaggcatg cctgggaaat
     1801 gctcccttgg cataaatagc aatcaatcat aattagtaaa caggtgtacc aataaaaaga
     1861 atttacatga taggttaaca aggaccagga aagtgagttt cctgaaggag ttctttgttc
     1921 ctgatcaaag aaattgatac ctgttagcat tcactgccac catattttaa ggagaaagaa
     1981 ctctattggt gtcgtctgag cagccattta aaaattggaa tctaaaggat ggttgctgat
     2041 gtactgtgtg gtctggtaga agtggggaaa tatgagagat ggaggaaaaa cttgattatg
     2101 tcttccatgg catatttact cttactttac ttcgtgccaa atcaaatgaa acaagccgtc
     2161 ttacaagtcg ttattgcctt taaaaatctg ttccgttttt ttcccaggta cttaaaatac
     2221 aagtgccagt aagtggttct tatgtgtttt ggggggaaaa ttttatttcc cttttcttct
     2281 gatatttaaa aaattcatcg atctttcaag atgaaccaag gttttttaaa agaaatatag
     2341 gaaacacttc attctttata aaactttcta taatgcctta tttgaatgtt aatcttatgt
     2401 gctttctaaa aaatgttgtg aaataccaaa cttatggatt atcactaggt tatcaagcat
     2461 atattagtct ttatcagaat aaaatgaaat ttcataactg tggctattac tttgttcttg
     2521 gtccttcaca gggcctgctc catcccacct tcctttctgc tgcctgatgt ctcaatggct
     2581 tctgaatgac tgttctaata aatgatctta aaacagtcca taggctggtt tcagtttatg
     2641 caatacttca tctcctgcta tggtagccat accggccttc ataataccct taggggattt
     2701 ggaaatcaaa gtgagcagtg gaagaacatg gctatgagaa ttaagactct tatttcctgt
     2761 gaccattccc tccccacccg caaacactta gcccaaagtt ttgcacatac attcattact
     2821 ttaggaatga atatgactgt aatacaactt ttttctttat ttttttttag acagggcctc
     2881 actctgttgc ccagactaga gtgcagtggc ataattgggt cactgtaacg ttgaactcct
     2941 gggctcacgc aattcttcta cctcagcctc ccaagtagct gaaactacag gtatgtacca
     3001 ccatgcctgg ctaattttat ttttttgtag agacggcgtc tcgatatgtt gcccaggcta
     3061 gtctcctggc ctcaaacagt cttcctgatt cagcttccca agtgctgaga ttacaggtgt
     3121 aagccactgc ccccacccaa aaaaataatt ctgtaatgac catcattaag atttatgtac
     3181 cacatggaaa tacatgtatg gagctgaatg ccatggctag gagaaactac tatacttttg
     3241 ttaaaagcca atgagaggcc gggcgcggtg gctcacgcct gtaatcccag cactttggga
     3301 ggccgaggcg ggcggatcac gaggtcagga gatcgagacc atcctggcta acacggtgaa
     3361 accccgtctc tactaaaaat acaaaaaaaa aaaaaaaaaa ttagccgggc atggtggcgg
     3421 gcgcctgtag tcccagctac tcgggaggtt gaggcaggag aatggtgtga atccgggagg
     3481 cggaggttgc agtgagctga gatcgtgcca ctgcactcca gcctgggcga cagagggaga
     3541 ctccgtctca aaaaaaaaag ccagggagaa cagcacctca actgatttat tttatagagt
     3601 aaaagttatt ttgctatacc ttttgtaagc agcgtgtact gtgggaaatg caaactagca
     3661 gttgttagca ccatccagaa atttctgtca gttccatttc aaatagttta aatactggct
     3721 caaatctcta aaccccaccc tatggctact tttcccccag ctatatataa tggcattcta
     3781 gcaagatatt ttggatcctc ataacttgtg acaaaactgc cctatactaa caacaaatca
     3841 ttgtaattat agatctcaaa ttatgttaaa ttgctatagt tgcaaccaac agcaagaatt
     3901 tgtattttag aatatgttgt gtcttctcat tgaccaaaaa ataaaaataa aaataaaaat
     3961 aaatcctcag gccctgataa actgtagaaa tagcttttct atctttgcag ttaaagattt
     4021 tcatcttgga agttatggtt aaaaaatttt taaacagtta aaatagtgta gctgtgctta
     4081 aagcttctgg taaaagccag tatgctttgt agagccctta tccccctcct gctttttatt
     4141 tgtttttagc tcactaaata atataaacac tgatttttcc atatatagca ctgaataaac
     4201 tgtcatgcct aagtgtaaa
//
