LOCUS       NM_000026               4359 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1,
            mRNA.
ACCESSION   NM_000026
VERSION     NM_000026.4
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 4359)
  AUTHORS   Cutillo,G., Masnada,S., Lesca,G., Ville,D., Accorsi,P.,
            Giordano,L., Pichiecchio,A., Valente,M., Borrelli,P., Ferraro,O.E.
            and Veggiotti,P.
  TITLE     Electroclinical features and phenotypic differences in
            adenylosuccinate lyase deficiency: Long-term follow-up of seven
            patients from four families and appraisal of the literature
  JOURNAL   Epilepsia Open 9 (1), 106-121 (2024)
   PUBMED   37842880
  REMARK    GeneRIF: Electroclinical features and phenotypic differences in
            adenylosuccinate lyase deficiency: Long-term follow-up of seven
            patients from four families and appraisal of the literature.
REFERENCE   2  (bases 1 to 4359)
  AUTHORS   Zurlo,G., Liu,X., Takada,M., Fan,C., Simon,J.M., Ptacek,T.S.,
            Rodriguez,J., von Kriegsheim,A., Liu,J., Locasale,J.W.,
            Robinson,A., Zhang,J., Holler,J.M., Kim,B., Zikanova,M., Bierau,J.,
            Xie,L., Chen,X., Li,M., Perou,C.M. and Zhang,Q.
  TITLE     Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic
            driver in triple negative breast cancer
  JOURNAL   Nat Commun 10 (1), 5177 (2019)
   PUBMED   31729379
  REMARK    GeneRIF: Adenylosuccinate lyase (ADSL) is an EglN2 hydroxylase
            substrate in triple negative breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4359)
  AUTHORS   Van Laer,B., Kapp,U., Soler-Lopez,M., Moczulska,K., Paabo,S.,
            Leonard,G. and Mueller-Dieckmann,C.
  TITLE     Molecular comparison of Neanderthal and Modern Human
            adenylosuccinate lyase
  JOURNAL   Sci Rep 8 (1), 18008 (2018)
   PUBMED   30573755
  REMARK    GeneRIF: ADSL undergoes conformational changes during catalysis
            which, together with the crystal structure of a hitherto
            undetermined product bound conformation, explains the molecular
            origin of disease for several modern human ADSL mutants.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4359)
  AUTHORS   Park,H., Ohshima,K., Nojima,S., Tahara,S., Kurashige,M., Hori,Y.,
            Okuzaki,D., Wada,N., Ikeda,J.I. and Morii,E.
  TITLE     Adenylosuccinate lyase enhances aggressiveness of endometrial
            cancer by increasing killer cell lectin-like receptor C3 expression
            by fumarate
  JOURNAL   Lab Invest 98 (4), 449-461 (2018)
   PUBMED   29467457
  REMARK    GeneRIF: involved in endometrial cancer aggressiveness by
            regulating expression of killer cell lectin-like receptor C3
REFERENCE   5  (bases 1 to 4359)
  AUTHORS   Baresova,V., Krijt,M., Skopova,V., Souckova,O., Kmoch,S. and
            Zikanova,M.
  TITLE     CRISPR-Cas9 induced mutations along de novo purine synthesis in
            HeLa cells result in accumulation of individual enzyme substrates
            and affect purinosome formation
  JOURNAL   Mol Genet Metab 119 (3), 270-277 (2016)
   PUBMED   27590927
REFERENCE   6  (bases 1 to 4359)
  AUTHORS   Kmoch,S., Hartmannova,H., Stiburkova,B., Krijt,J., Zikanova,M. and
            Sebesta,I.
  TITLE     Human adenylosuccinate lyase (ADSL), cloning and characterization
            of full-length cDNA and its isoform, gene structure and molecular
            basis for ADSL deficiency in six patients
  JOURNAL   Hum Mol Genet 9 (10), 1501-1513 (2000)
   PUBMED   10888601
REFERENCE   7  (bases 1 to 4359)
  AUTHORS   Stone,R.L., Zalkin,H. and Dixon,J.E.
  TITLE     Expression, purification, and kinetic characterization of
            recombinant human adenylosuccinate lyase
  JOURNAL   J Biol Chem 268 (26), 19710-19716 (1993)
   PUBMED   8366112
REFERENCE   8  (bases 1 to 4359)
  AUTHORS   Fon,E.A., Demczuk,S., Delattre,O., Thomas,G. and Rouleau,G.A.
  TITLE     Mapping of the human adenylosuccinate lyase (ADSL) gene to
            chromosome 22q13.1-->q13.2
  JOURNAL   Cytogenet Cell Genet 64 (3-4), 201-203 (1993)
   PUBMED   8404037
REFERENCE   9  (bases 1 to 4359)
  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   10 (bases 1 to 4359)
  AUTHORS   Zalkin,H. and Dixon,J.E.
  TITLE     De novo purine nucleotide biosynthesis
  JOURNAL   Prog Nucleic Acid Res Mol Biol 42, 259-287 (1992)
   PUBMED   1574589
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP298407.1, AF067853.1,
            BG187609.1 and AL022238.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 20, 2018 this sequence version replaced NM_000026.3.
            
            Summary: The protein encoded by this gene belongs to the lyase 1
            family. It is an essential enzyme involved in purine metabolism,
            and catalyzes two non-sequential reactions in the de novo purine
            biosynthetic pathway: the conversion of succinylaminoimidazole
            carboxamide ribotide (SAICAR) to aminoimidazole carboxamide
            ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to
            adenosine monophosphate (AMP). Mutations in this gene are
            associated with adenylosuccinase deficiency (ADSLD), a disorder
            marked with psychomotor retardation, epilepsy or autistic features.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes the longest 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.159227.1,
                                           SRR3476690.212230.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000623063.3/ ENSP00000485525.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BP298407.1         1-9
            10-1738             AF067853.1         6-1734
            1739-1740           BG187609.1         18-19               c
            1741-4359           AL022238.1         68977-71595
FEATURES             Location/Qualifiers
     source          1..4359
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..4359
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="adenylosuccinate lyase"
                     /db_xref="GeneID:158"
                     /db_xref="HGNC:HGNC:291"
                     /db_xref="MIM:608222"
     exon            1..212
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..1514
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /EC_number="4.3.2.2"
                     /note="isoform a is encoded by transcript variant 1;
                     adenylosuccinase"
                     /codon_start=1
                     /product="adenylosuccinate lyase isoform a"
                     /protein_id="NP_000017.1"
                     /db_xref="CCDS:CCDS14001.1"
                     /db_xref="GeneID:158"
                     /db_xref="HGNC:HGNC:291"
                     /db_xref="MIM:608222"
                     /translation="MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWL
                     WLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKA
                     AGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF
                     QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHK
                     VEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLK
                     EMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDS
                     ANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKA
                     GGSRQDCHEKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFT
                     GRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL"
     exon            213..416
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            417..461
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            462..541
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            542..713
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            714..760
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            761..851
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            852..921
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1069
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1160
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1250
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1427
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..4359
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1527..1532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="hexamer: ATTAAA"
     polyA_site      1565
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="major polyA site"
     polyA_site      1638
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
     regulatory      1719..1724
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="hexamer: AGTAAA"
     polyA_site      1740
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
     regulatory      2853..2858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
                     /note="hexamer: AATAAA"
     polyA_site      2873
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
     polyA_site      4359
                     /gene="ADSL"
                     /gene_synonym="AMPS; ASASE; ASL"
ORIGIN      
        1 aggtttccgc ttccgctctt ccctggtcca gtccaccctg gcggggtcgc agggttggga
       61 tggcggctgg aggcgatcat ggttcgcccg acagctaccg ctcacctctt gcctcccgct
      121 atgccagccc ggagatgtgc ttcgtgttta gcgacaggta taaattccgg acatggcggc
      181 agctgtggct gtggctggcg gaggccgagc agacattggg tttgcctatc acagatgaac
      241 aaatccagga gatgaaatca aacctggaga acatcgactt caagatggca gctgaggaag
      301 agaaacgttt acgacatgat gtgatggctc acgtgcacac atttggccac tgctgtccaa
      361 aagctgcagg cattattcac cttggtgcta cttcttgcta tgttggagac aatactgact
      421 tgattattct tagaaatgca cttgacctgc ttttgccaaa gcttgccaga gtgatctctc
      481 ggcttgccga ctttgctaag gaacgagcca gtctacccac attaggtttc acacatttcc
      541 agcctgcaca gctgaccaca gttgggaaac gttgctgtct ttggattcag gatctttgca
      601 tggatctcca gaacttgaag cgtgtccgag atgacctgcg cttccgggga gtaaagggta
      661 ccactggcac tcaggccagt ttcctgcagc tctttgaggg agatgaccat aaggtagagc
      721 agcttgacaa gatggtgaca gaaaaggcag gatttaagag agctttcatc atcacagggc
      781 agacatatac acgaaaagtg gatattgaag tactgtctgt gctggctagc ttgggggcat
      841 cagtgcacaa gatttgcacc gacatacgcc tcctggcaaa cctcaaggag atggaggaac
      901 cctttgaaaa acagcagatt ggctcaagtg cgatgccata taagcggaat cccatgcgtt
      961 cagaacgttg ctgcagtctt gcccgccacc tgatgaccct tgtcatggac ccgctacaga
     1021 cagcatctgt ccagtggttt gaacgcacac tggatgatag tgccaaccga cggatctgtt
     1081 tggccgaggc atttcttacc gcagatacta tattgaatac gctgcagaac atttctgaag
     1141 gattggtcgt gtaccccaaa gtaattgaac ggcgcattcg gcaagagctg cctttcatgg
     1201 ccacagagaa catcatcatg gccatggtca aagctggagg tagccgccag gattgccatg
     1261 agaaaatcag agtgctttct cagcaggcag cttctgtggt taagcaggaa gggggtgaca
     1321 atgacctcat agagcgtatc caggttgatg cctacttcag tcccattcac tcccagttgg
     1381 atcatttact ggatccttct tctttcactg gtcgtgcctc ccagcaggtg cagagattct
     1441 tagaagagga ggtgtatccc ctgttaaaac catatgaaag cgtgatgaag gtgaaagcag
     1501 aattatgtct gtagagttgg aagagaatta aacgaaaatc attgttaatt gctgaggcat
     1561 gaaaattgtg ttactataat gccttatttt acctcgagaa ttgttacctt aaattagtac
     1621 agcactttct tcttcccatg gtgctttcct gtttctcagt ctcacatttc tcaacaaggc
     1681 aaaaacaaag agcgttgaag ttgactctgc tcttgcatag taaatgtagt tcatacttga
     1741 tctctgttct ttcaaggcat attttccagc tgcctcaagt ttagtccttt tcacgtgttc
     1801 atttgcttgt aaagtagcaa gaaatttctg gtcctgtctt ctaaaagtga atttgatcta
     1861 ggtctagcaa aataacctgg actcagtgat tgagtcaatg gtcagatacc ttttatttcg
     1921 gttatttttg gctagtataa gtgatgaagt ttggaactac agtaaatact taaaaaaaaa
     1981 aaaaaaaaga accaaaccct gatgtgacca tcaggctgat tgagctgaag ttgtgcccaa
     2041 gctcatttca tcttttgata aggcttatac agcagggaaa tgctaattga gtatattgat
     2101 ttcatcaggg ccgctgacag tctttattcc ttgttgcatg gattttgttg ttgaggcttg
     2161 ctctgtcacc cagactagag tgcagtagca caatcttggc tcactgcaac ctccgcctct
     2221 caggttcaag cgattctcca gcctcagcct cccaagtagc tgggattaca ggcgcctgcc
     2281 gccatgcctg gctaattttt gtatttttag acgggatgga gttttgccat gttgggcggg
     2341 ctggtcttga actcctgacc tcaagtgatc cgcccatctc agcctcccaa agttctggga
     2401 ttatagacat gagccaccac acccagccta atcttgtttt ctttttttac ttgtttacag
     2461 tgtaagcaag tgccattgga caagaacgtt gtctgtgtca ttccttgttg tatttccaat
     2521 agcaagagca catcagatac ttggcaacta ggcagtcttc cagcttctgc cactgcgccc
     2581 gacttccttg ttgcatggat ttatagctga ttgaagcaac tgtagccaaa gattgagtta
     2641 attacctacc tgccaggaga gcactagtgt tatttagccc attctcatcc tacatatttt
     2701 tcggcataga tgaaaatgaa agcttttgtt tatcagattt gcagatgaca caaaactggg
     2761 agaattaaca agtatgttta tttggtaaaa taagttttca tctctaacct aaatcggctg
     2821 aaatgatgtg tcctaaacta gaggaaaaag ttaataaaga tcaatgtaaa taagttaatc
     2881 ttaaactcag tatgcaccag aactgagaga agactgtttt aggaggtgtt aatggttgtc
     2941 cagtgcccaa aaagccacca gaggcttact gctccgcact cttggcatta cattcaattt
     3001 tggataccca gtctgaggaa tagagatgaa ctggagagcc aacctccaaa aagatcttgt
     3061 ggtggaggaa tgttagggct ctttatccta tacagaagaa aactcctcgg cacttcaaat
     3121 attgccaggt gcaggaagag tgacttgatt gtgtgttgcc ccaagagaca cactgagctc
     3181 aatacccatt actgagactg gcttggggcc agacattgga accactgaga ttagcaacct
     3241 acactcaatc ccccaggtca ggcagaagct ggaagactgc ctcgttagga atgttgtgag
     3301 ggagaggagg ctgaatcggt tccagtttta tttaaaagta gccaggaaat caggttgcga
     3361 tgatgcgcat ttacagtccc agctacttgg gaagctgagg cgatagggtc acttgagccc
     3421 aagagtttag tccaggctgg gtgacagcga gcccttgtca cttaaagcca acctaagaga
     3481 agagcttatc cttttggaaa aacaatagaa gacaattctg aaaaccaaat tctgaacata
     3541 ggctagtata gcaagcaagc agggatagca tagagccatt tgctcaactt ccagaaagag
     3601 ttactctgtt catctctaaa aaatcttgaa aagggccggg tgcggtggtg gctcacgcct
     3661 gtaatcccaa cactttggga ggccgaggca ggtggatcac ctgaggtcag gagttcgaga
     3721 ccagcttgac cgacaaggtg aaactccgtc tctactaaaa atacaatcaa ccgggcgtgg
     3781 tggcaggcgc ctatagtccc agctacttgg gaggctgaga caggagaatt gcttgaacct
     3841 gggaggcaga agttgcagtg agccaagatc atgccactgt actccagcct gggcaacgga
     3901 gcgagactcc atctgaaaaa acaaaacaga aaaaatcttg aaaggatact aagtctgaca
     3961 caaggaaatt aagtcatggg actctgacca gatattctgt ctacttcctt ctctgctatg
     4021 ggcaacttgg aggcagcaac tactatcagt ttatctgtaa tgtgagaatt tatattacat
     4081 aacagatact ggggatatag gataccatgg attttagtta atacatttcc tcatagaaaa
     4141 taaggaaata acagtcttgt tcctgtccta acaattctgt tagactaatg atctccagtg
     4201 attggcgatt tgacctggtt tcttcctgga ctatttgaat gggtggattt gttggtgcat
     4261 ctcttgtctt ctttcctttt ccattctcct ttatttttgt atttacatac ttgtatgcaa
     4321 ctttgtaatc tgattttccc atgtaacatt ttaatttga
//
