LOCUS       NM_001126               2555 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens adenylosuccinate synthase 2 (ADSS2), transcript
            variant 1, mRNA.
ACCESSION   NM_001126
VERSION     NM_001126.5
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 2555)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2555)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 2555)
  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   4  (bases 1 to 2555)
  AUTHORS   Chen,K., Ma,H., Li,L., Zang,R., Wang,C., Song,F., Shi,T., Yu,D.,
            Yang,M., Xue,W., Dai,J., Li,S., Zheng,H., Wu,C., Zhang,Y., Wu,X.,
            Li,D., Xue,F., Li,H., Jiang,Z., Liu,J., Liu,Y., Li,P., Tan,W.,
            Han,J., Jie,J., Hao,Q., Hu,Z., Lin,D., Ma,D., Jia,W., Shen,H. and
            Wei,Q.
  TITLE     Genome-wide association study identifies new susceptibility loci
            for epithelial ovarian cancer in Han Chinese women
  JOURNAL   Nat Commun 5, 4682 (2014)
   PUBMED   25134534
  REMARK    Erratum:[Nat Commun. 2014;5:5828]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2555)
  AUTHORS   Stepinski,J., Pawelczyk,T., Bizon,D. and Angielski,S.
  TITLE     Purine nucleotide cycle in rat renal cortex and medulla under
            conditions that mimic normal and low oxygen supply
  JOURNAL   Kidney Int 50 (4), 1195-1201 (1996)
   PUBMED   8887278
REFERENCE   6  (bases 1 to 2555)
  AUTHORS   Powell,S.M., Zalkin,H. and Dixon,J.E.
  TITLE     Cloning and characterization of the cDNA encoding human
            adenylosuccinate synthetase
  JOURNAL   FEBS Lett 303 (1), 4-10 (1992)
   PUBMED   1592113
REFERENCE   7  (bases 1 to 2555)
  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
REFERENCE   8  (bases 1 to 2555)
  AUTHORS   Lai,L.W., Hart,I.M. and Patterson,D.
  TITLE     A gene correcting the defect in the CHO mutant Ade -H, deficient in
            a branch point enzyme (adenylosuccinate synthetase) of de novo
            purine biosynthesis, is located on the long arm of chromosome 1
  JOURNAL   Genomics 9 (2), 322-328 (1991)
   PUBMED   2004783
REFERENCE   9  (bases 1 to 2555)
  AUTHORS   Ogawa,H., Shiraki,H., Matsuda,Y. and Nakagawa,H.
  TITLE     Interaction of adenylosuccinate synthetase with F-actin
  JOURNAL   Eur J Biochem 85 (2), 331-337 (1978)
   PUBMED   648524
REFERENCE   10 (bases 1 to 2555)
  AUTHORS   Van der Weyden,M.B. and Kelly,W.N.
  TITLE     Human adenylosuccinate synthetase. Partial purification, kinetic
            and regulatory properties of the enzyme from placenta
  JOURNAL   J Biol Chem 249 (22), 7282-7289 (1974)
   PUBMED   4436310
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012356.1 and AL645465.15.
            
            On Nov 22, 2018 this sequence version replaced NM_001126.4.
            
            Summary: This gene encodes the enzyme adenylosuccinate synthetase
            which catalyzes the first committed step in the conversion of
            inosine monophosphate to adenosine monophosphate. A pseudogene of
            this gene is found on chromosome 17.[provided by RefSeq, Nov 2010].
            
            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 :: BC012356.1, GQ900992.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366535.4/ ENSP00000355493.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1551              BC012356.1         11-1561
            1552-2555           AL645465.15        66896-67899         c
FEATURES             Location/Qualifiers
     source          1..2555
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..2555
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /note="adenylosuccinate synthase 2"
                     /db_xref="GeneID:159"
                     /db_xref="HGNC:HGNC:292"
                     /db_xref="MIM:103060"
     exon            1..275
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..1463
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /EC_number="6.3.4.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     adenylosuccinate synthetase, acidic isozyme;
                     IMP--aspartate ligase 2; adenylosuccinate synthetase
                     (Ade(-)H-complementing); L-type adenylosuccinate
                     synthetase; adenylosuccinate synthetase, liver isozyme;
                     AMPSase 2; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="adenylosuccinate synthetase isozyme 2 isoform 1"
                     /protein_id="NP_001117.2"
                     /db_xref="CCDS:CCDS1624.1"
                     /db_xref="GeneID:159"
                     /db_xref="HGNC:HGNC:292"
                     /db_xref="MIM:103060"
                     /translation="MAFAETYPAASSLPNGDCGRPRARPGGNRVTVVLGAQWGDEGKG
                     KVVDLLAQDADIVCRCQGGNNAGHTVVVDSVEYDFHLLPSGIINPNVTAFIGNGVVIH
                     LPGLFEEAEKNVQKGKGLEGWEKRLIISDRAHIVFDFHQAADGIQEQQRQEQAGKNLG
                     TTKKGIGPVYSSKAARSGLRMCDLVSDFDGFSERFKVLANQYKSIYPTLEIDIEGELQ
                     KLKGYMEKIKPMVRDGVYFLYEALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTV
                     GGVCTGLGMPPQNVGEVYGVVKAYTTRVGIGAFPTEQDNEIGELLQTRGREFGVTTGR
                     KRRCGWLDLVLLKYAHMINGFTALALTKLDILDMFTEIKVGVAYKLDGEIIPHIPANQ
                     EVLNKVEVQYKTLPGWNTDISNARAFKELPVNAQNYVRFIEDELQIPVKWIGVGKSRE
                     SMIQLF"
     exon            276..378
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            379..447
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            448..498
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            499..565
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            566..673
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            674..755
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            756..882
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1037
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1162
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1260
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1410
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..2555
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2181..2186
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /note="hexamer: ATTAAA"
     polyA_site      2201
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /note="major polyA site"
     regulatory      2530..2535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /note="hexamer: ATTAAA"
     polyA_site      2555
                     /gene="ADSS2"
                     /gene_synonym="ADEH; ADSS; ADSS 2"
                     /note="major polyA site"
ORIGIN      
        1 ctctgcatgt ggctggcggc cgcagagcag ttcagttcgc tcactcctcg ccggccgcct
       61 ctccttcggg ctctcctcgc gtcactggag ccatggcgtt cgccgagacc tacccggcgg
      121 catcctccct gcccaacggc gattgcggcc gccccagggc gcggcccgga ggaaaccggg
      181 tgacggtggt gctcggtgcg cagtggggcg acgaaggcaa agggaaggtg gtggacctgc
      241 tggcgcagga cgccgacatc gtgtgccgct gccagggagg aaataatgct ggccatacag
      301 ttgttgtgga ttctgtggaa tatgattttc atctcttacc cagtggaata attaatccaa
      361 atgtcactgc attcattgga aatggtgtgg taattcatct acctggattg tttgaagaag
      421 cagagaaaaa tgttcaaaaa ggaaaaggac tagaaggctg ggaaaaaagg cttattatat
      481 ctgacagagc tcatattgta tttgattttc atcaagcagc tgatggtatc caggaacaac
      541 agagacaaga acaagcagga aaaaatttgg gtacaacaaa aaagggcatt ggcccagttt
      601 attcgtccaa agctgctcgg agtggactca ggatgtgcga ccttgtttct gactttgatg
      661 gcttctctga gaggtttaaa gttctagcta accaatacaa atctatatac cccactttgg
      721 aaatagacat tgaaggtgaa ttacaaaaac tcaagggtta tatggaaaag attaaaccaa
      781 tggtgagaga tggagtttat tttctatatg aggccctaca tggaccacca aagaaaatct
      841 tggtagaagg tgcaaatgca gcactattag atattgattt tgggacttac ccttttgtaa
      901 cctcttcaaa ttgtactgtt ggaggtgttt gtactggttt gggtatgcca cctcaaaatg
      961 ttggagaagt gtatggagtt gtgaaagctt atacaactag agttggtatt ggtgcctttc
     1021 ctacagagca agacaatgaa attggagaat tattacaaac aaggggtaga gagtttggtg
     1081 taactactgg aaggaaaaga agatgtggct ggttggacct cgttttgctc aaatatgctc
     1141 atatgatcaa tggatttact gcgttggcac ttaccaagtt ggatattttg gacatgttta
     1201 cggaaatcaa agttggagtt gcttacaagt tagatggtga aatcatacct catatcccag
     1261 caaaccaaga agtcttaaat aaagttgaag ttcaatataa gactctccca ggatggaaca
     1321 cagacatatc aaatgcaagg gcgtttaaag aactacctgt taatgcacaa aactatgttc
     1381 gatttattga agatgagctt caaattccag ttaagtggat tggtgttggt aaatccagag
     1441 aatctatgat tcaactcttt taatgattgc cagtaatgca agaaacactc cttgagaggg
     1501 aggggaaaag actttcttaa atatttcatt tatgacctgc aaattcaaga ataaagacac
     1561 tgaagtaagt ttgaagccct acagttgttt ccagtctttt cagatggatg cctactgtgg
     1621 agattaactt tggcatattc cagtgtcagc tttctttagc tggaattgcc aaatcatttg
     1681 ttgctcctgc tgctctcatg gtgccacgtt ttttttttca atgtttagta atagtataat
     1741 ccatgttgtt tgatatcaaa agtagaatta cttttaatgt agtttttctt cattattgtc
     1801 attgcgtgtt cttaagtttt acccctatta gatggtaaga acaattaatg cagttttgca
     1861 caaatatttt tacattctga tcattcagtt ctgtcattgt aatctttgtt gttagaaaca
     1921 aatgatgaaa acataggggt tctgtaaact tttgtaatgc tatgaattct gtttaaattt
     1981 tgggctgtct attttctgct gaaaccatgc aaaattgagc tttggtgggg ctgggagggg
     2041 gttatgtatt catgggacct ttaatttgta cagaacacag aacttatttc tgtcagttat
     2101 ttaatacatt gaaaatttag tgaaatgttc aaagagaata gatgtttccc aaaacaacaa
     2161 tctttatgtt aaaaatagtc attaaaagat ctgttgtaat atatggtgga tatttttctt
     2221 taatttcaaa cattacctct gaaatgtgta tcttttcttt tttatcttac cattaatttt
     2281 aaatctagtg gattggtttt caacatcgtg cctgccgata tgcctacaga atcatctgta
     2341 agtgtcaaaa tgaacccacg ttgttagcca taattttgat tatgccttta tttctccttt
     2401 cttgaaaaaa aaaaggtgtt attttgacaa ttaggcataa cattgttttg tagattatct
     2461 tttaatgaac tattttaaat gttaaattag gtgccactta aatttatttt attacaccat
     2521 gaatagctga ttaaaagaac caaatatttc tagta
//
