LOCUS       NM_009634               3712 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus adenylosuccinate lyase (Adsl), mRNA.
ACCESSION   NM_009634
VERSION     NM_009634.6
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3712)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3712)
  AUTHORS   Stepanova,V., Moczulska,K.E., Vacano,G.N., Kurochkin,I., Ju,X.,
            Riesenberg,S., Macak,D., Maricic,T., Dombrowski,L., Schornig,M.,
            Anastassiadis,K., Baker,O., Naumann,R., Khrameeva,E.,
            Vanushkina,A., Stekolshchikova,E., Egorova,A., Tkachev,A.,
            Mazzarino,R., Duval,N., Zubkov,D., Giavalisco,P., Wilkinson,T.G.,
            Patterson,D., Khaitovich,P. and Paabo,S.
  TITLE     Reduced purine biosynthesis in humans after their divergence from
            Neandertals
  JOURNAL   Elife 10, e58741 (2021)
   PUBMED   33942714
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3712)
  AUTHORS   Jiang,D., Burger,C.A., Casasent,A.K., Albrecht,N.E., Li,F. and
            Samuel,M.A.
  TITLE     Spatiotemporal gene expression patterns reveal molecular
            relatedness between retinal laminae
  JOURNAL   J Comp Neurol 528 (5), 729-755 (2020)
   PUBMED   31609468
REFERENCE   4  (bases 1 to 3712)
  AUTHORS   Albrecht,N.E., Alevy,J., Jiang,D., Burger,C.A., Liu,B.I., Li,F.,
            Wang,J., Kim,S.Y., Hsu,C.W., Kalaga,S., Udensi,U., Asomugha,C.,
            Bohat,R., Gaspero,A., Justice,M.J., Westenskow,P.D., Yamamoto,S.,
            Seavitt,J.R., Beaudet,A.L., Dickinson,M.E. and Samuel,M.A.
  TITLE     Rapid and Integrative Discovery of Retina Regulatory Molecules
  JOURNAL   Cell Rep 24 (9), 2506-2519 (2018)
   PUBMED   30157441
REFERENCE   5  (bases 1 to 3712)
  AUTHORS   Nemkov,T., Sun,K., Reisz,J.A., Song,A., Yoshida,T., Dunham,A.,
            Wither,M.J., Francis,R.O., Roach,R.C., Dzieciatkowska,M.,
            Rogers,S.C., Doctor,A., Kriebardis,A., Antonelou,M.,
            Papassideri,I., Young,C.T., Thomas,T.A., Hansen,K.C.,
            Spitalnik,S.L., Xia,Y., Zimring,J.C., Hod,E.A. and D'Alessandro,A.
  TITLE     Hypoxia modulates the purine salvage pathway and decreases red
            blood cell and supernatant levels of hypoxanthine during
            refrigerated storage
  JOURNAL   Haematologica 103 (2), 361-372 (2018)
   PUBMED   29079593
REFERENCE   6  (bases 1 to 3712)
  AUTHORS   Lee,T.T., Worby,C., Dixon,J.E. and Colman,R.F.
  TITLE     Identification of His141 in the active site of Bacillus subtilis
            adenylosuccinate lyase by affinity labeling with
            6-(4-bromo-2,3-dioxobutyl)thioadenosine 5'-monophosphate
  JOURNAL   J Biol Chem 272 (1), 458-465 (1997)
   PUBMED   8995283
REFERENCE   7  (bases 1 to 3712)
  AUTHORS   Wong,L.J. and O'Brien,W.E.
  TITLE     Characterization of the cDNA and the gene encoding murine
            adenylosuccinate lyase
  JOURNAL   Genomics 28 (2), 341-343 (1995)
   PUBMED   8530047
REFERENCE   8  (bases 1 to 3712)
  AUTHORS   Stone,R.L., Aimi,J., Barshop,B.A., Jaeken,J., Van den Berghe,G.,
            Zalkin,H. and Dixon,J.E.
  TITLE     A mutation in adenylosuccinate lyase associated with mental
            retardation and autistic features
  JOURNAL   Nat Genet 1 (1), 59-63 (1992)
   PUBMED   1302001
REFERENCE   9  (bases 1 to 3712)
  AUTHORS   Swain,J.L., Hines,J.J., Sabina,R.L., Harbury,O.L. and Holmes,E.W.
  TITLE     Disruption of the purine nucleotide cycle by inhibition of
            adenylosuccinate lyase produces skeletal muscle dysfunction
  JOURNAL   J Clin Invest 74 (4), 1422-1427 (1984)
   PUBMED   6480832
REFERENCE   10 (bases 1 to 3712)
  AUTHORS   Atkinson,M.R., Morton,R.K. and Murray,A.W.
  TITLE     Inhibition of adenylosuccinate synthetase and adenylosuccinate
            lyase from Ehrlich ascites-tumour cells by 6-thioinosine
            5'-phosphate
  JOURNAL   Biochem J 92 (2), 398-404 (1964)
   PUBMED   5891253
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY032654.1, AC125540.4,
            AK049372.1 and AC141880.3.
            
            On Jan 24, 2013 this sequence version replaced NM_009634.5.
            
            Summary: This gene encodes a protein that is involved in adenosine
            monophosphate (AMP) biosynthesis and maintaining AMP levels in the
            muscle. The encoded enzyme catalyzes the release of fumarate during
            AMP biosynthesis by cleaving the substrates succinylaminoimidazole
            carboxamide (SAICA) ribotide to give aminoimidazole carboxamide
            (AICA) ribotide, and adenylosuccinate to give adenylate. In humans,
            this gene is associated with adenylosuccinate deficiency, a rare
            autosomal disorder resulting in a spectrum of neurological
            symptoms. A pseudogene associated with this gene is located on the
            X chromosome. [provided by RefSeq, Jan 2013].
            
            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 :: AK049372.1, AK168906.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BY032654.1         2-3
            3-3                 AC125540.4         152942-152942
            4-29                BY032654.1         5-30
            30-3377             AK049372.1         2-3349
            3378-3378           AC141880.3         137625-137625       c
            3379-3712           AK049372.1         3351-3684
FEATURES             Location/Qualifiers
     source          1..3712
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="15"
                     /map="15 37.95 cM"
     gene            1..3712
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /note="adenylosuccinate lyase"
                     /db_xref="GeneID:11564"
                     /db_xref="MGI:MGI:103202"
     exon            1..211
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1513
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /EC_number="4.3.2.2"
                     /note="ASase; adenylosuccinase; adenylosuccinate lyase 1"
                     /codon_start=1
                     /product="adenylosuccinate lyase"
                     /protein_id="NP_033764.2"
                     /db_xref="CCDS:CCDS27664.1"
                     /db_xref="GeneID:11564"
                     /db_xref="MGI:MGI:103202"
                     /translation="MAASGDPGSAESYRSPLAARYASREMCFLFSDRYKFQTWRQLWL
                     WLAEAEQTLGLPITDEQIQEMKSNLNNIDFQMAAEEEKRLRHDVMAHVHTFGHCCPKA
                     AGIIHLGATSCYVGDNTDLIILRNAFDLLLPKLARVISRLADFAKDRADLPTLGFTHF
                     QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDELRFRGVKGTTGTQASFLQLFEGDHQK
                     VEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLK
                     EMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMALTMDPLQTASVQWFERTLDDS
                     ANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKA
                     GGSRQDCHEKIRVLSQQAAAVVKQEGGDNDLIERIRADAYFSPIHSQLEHLLDPSSFT
                     GRAPQQVHRFLEEEVRPLLKPYGNEMAVKAELCL"
     exon            212..415
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            416..460
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            461..540
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            541..712
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            713..759
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            760..850
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            851..920
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1068
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1159
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1249
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1426
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..3712
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2050..2055
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /note="hexamer: ATTAAA"
     polyA_site      2069
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /note="major polyA site"
     regulatory      2289..2294
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /note="hexamer: AATACA"
     polyA_site      2300
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /note="major polyA site"
     regulatory      2405..2410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
                     /note="hexamer: AAGAAA"
     polyA_site      2431
                     /gene="Adsl"
                     /gene_synonym="Adl; Asl"
ORIGIN      
        1 acccttccgc ttttggccct gctgctggtg tccgccgcgt cctggtcgcg tgttgaaaat
       61 ggctgcatcc ggcgaccctg gcagtgctga aagttaccgt tctccgctgg cggcccgcta
      121 cgccagccgc gagatgtgtt tcttgttcag cgacaggtac aagttccaga cgtggcggca
      181 gctgtggctg tggctggcgg aggccgaaca gacgctgggt ttgcctatca cagatgaaca
      241 aatccaggag atgaagtcga acctgaacaa cattgacttc cagatggcag ctgaggaaga
      301 gaagcgcctg cggcacgacg tgatggctca cgtgcacacg tttggccact gctgtccgaa
      361 agctgcgggc attattcatc tgggcgccac ctcctgctat gtcggagaca atacggacct
      421 gattattctg agaaatgcat ttgacctact tttgccaaag cttgctagag tgatctcgag
      481 gcttgccgac tttgctaagg atcgtgctga tctgcccacg ttaggtttca cacactttca
      541 gcctgctcag ctgaccacgg ttgggaaacg atgctgcctt tggattcaag atctctgcat
      601 ggatctccag aacttgaagc gtgtccggga tgagctgcgc ttccgaggag taaagggcac
      661 cactggcacg caggccagct tcctgcagct cttcgagggg gatcaccaga aggtggagca
      721 gctggacaag atggtgacag aaaaggcagg gtttaaaaga gccttcatca tcacaggaca
      781 gacgtacaca cggaaagtgg acatcgaagt gctgtctgtg ctggccagct taggagcatc
      841 ggtgcacaag atttgcactg acatacgcct gctggcaaac ctgaaggaga tggaggagcc
      901 ctttgagaaa cagcagattg gctccagtgc gatgccgtac aagcggaacc ccatgcgctc
      961 cgaacgttgc tgcagcctgg cccgtcacct gatggccctt accatggacc cactacagac
     1021 agcgtctgtg cagtggtttg aacgtactct ggatgacagt gccaaccgac ggatctgttt
     1081 ggctgaagcg tttctcactg cagatactat attaaacacc ctacagaaca tttctgaagg
     1141 attggtggtg taccccaaag taattgaacg gcgcattcgg caagagctgc ctttcatggc
     1201 cacagagaac atcatcatgg caatggtgaa agccgggggc agccgacagg actgccatga
     1261 gaaaattaga gtgctttccc agcaggcagc tgctgtggtc aagcaggaag gaggtgacaa
     1321 tgaccttata gagcgcatcc gggcagatgc ctacttcagc cccatccact cacagctgga
     1381 gcacttgctg gacccctctt ctttcactgg ccgagcaccc cagcaggtcc acagattcct
     1441 ggaagaggaa gtgcgccccc tgctaaagcc ctatgggaat gagatggcgg tgaaagcaga
     1501 gctgtgtctg tagagtagga gagctgagga gaacccggtt acagtgatta gagcttgctg
     1561 attacagtgt tagagttact actgtgttct gcggcactcc tttacacact caggaggcag
     1621 aggcaggcag atctctgagt tcaaggccag cctggtctac aaaacaagtt ccaggacagc
     1681 cagagctaca cagagaaacc ctgtctcaac aaacaaacaa acagaggctg gggacatggc
     1741 actgactgct cttccaaagg tcctgagttc aaatcccagc aaccacatgg tggctcacaa
     1801 ccatctgtaa tgagatctga tgccctcttc tggtgcatga agacagctac agtgtattca
     1861 tatacataaa ataaatgaat ctttaaaaac aaacaaaaag aatgtacatt aagttctctt
     1921 gcttggggtt cacaacagat agccgtgctt tcttgttttc tccagtcttt tgttgttgag
     1981 acagagtctc aatgtgtatc attggctgac ctggaacaca gaaatctgcc tcatctcccc
     2041 agtggcagga ttaaaggtgt gctccaccat gcctggctgt tttatatttt ttacagcaac
     2101 ataatcttgc agaataatgt agctcatact tattttccag atgccttgag tctacaatgt
     2161 ttcctcactt acagtgagat tgtgtcacca taaggaaatg agttcagttc acctatcaaa
     2221 cattgttatg tgctcataac acttgacagt aacttctggt ccaagatccc ctaacaaact
     2281 gtattagtaa tacagtcaaa tgcctagtgt tgtttactga gtcctatgca ggtacacttt
     2341 gccacacact aggctagact cttcctgtag tccttttcaa gtatttactt gattgtaaag
     2401 tagcaagaaa ttcctggatt catgagtcac atcatcagat cccttgattt caattctttc
     2461 tgcccaggtt aaataatatt taacctgacg tttgtagcta aggatggata ttgttgggtc
     2521 cctcaggtgc ctattccatc ttttacagag gttgccttct caggacaatg ctaactgggt
     2581 aaactgattg cattatggaa cctcccagcc tcttagcctt gttaagtaga taggtagcta
     2641 tttggacaag ctagtcaaaa ggtgagttat gaaaagacca agaccagccg gaagaggaac
     2701 attcgccttg ccttgggctg tgtattttgg tgtgttggtg tgtgtggaat tgaagggctg
     2761 gcaagatggc tcaactagta agggcctgtt gtgttggggg tggggggaat ccacaaactt
     2821 gttctctgac ctccaccaat aatagtgaag tggtttaagt gagcaaagct gttgtggtag
     2881 cacataaccg ctagaagctg cccaagcctg ccgtggtcac ttacactagg tggccccaac
     2941 ctttgctcct agtcccccgt ccccttcaga aagcccaact ctttggccac ccctgcccgg
     3001 ccagagctct gtagatctct gcagatgaga gtctggtaca cagaccaaca tacacagttt
     3061 cagggcagtc cagagactgc cacaaaacag acatgaagat tctgttgatc agatttttag
     3121 ttgacaagaa ctaggagaat taagcaactt ggtaacaact gagatttcat ctggcaagga
     3181 taaatgtaaa caaaccttaa actccgtagc agccaggaaa catggtagta gtgtcctgaa
     3241 aggtcacctg ataatatgcc acattcagta tttgttcaat cttgattgga tccaaagaga
     3301 aacctctgac tttaagactc cagcatcttt tgaggtctta gtgtatgtgg acttctccat
     3361 gctggccttg aaatgtacct cagcctccag ggtgtggagg tgacaggtgt gctgtttggt
     3421 agactgatcc agcaagagtg acctacaacc ccaacctctg tctaggaagg agctaaagac
     3481 aatgttgttg tcaggagtgt ttgtctaagt ctgtgctcgt aggtatccag aatctcaact
     3541 tgtcttaata tcccagcact aaggaggctg aggcaggagg attgccgtgg agataattcc
     3601 cacagactac atagtgtaca gattgagata atcagtgttt aaaaaaaaaa aaaaatctgt
     3661 ctcagtggta ccatgctgac ttggccctcc ttcagtaaag gaatcctgca gc
//
