LOCUS       NM_152328               1723 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens adenylosuccinate synthase 1 (ADSS1), transcript
            variant 2, mRNA.
ACCESSION   NM_152328
VERSION     NM_152328.5
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 1723)
  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 1723)
  AUTHORS   Saito,Y., Nishikawa,A., Iida,A., Mori-Yoshimura,M., Oya,Y.,
            Ishiyama,A., Komaki,H., Nakamura,S., Fujikawa,S., Kanda,T.,
            Yamadera,M., Sakiyama,H., Hayashi,S., Nonaka,I., Noguchi,S. and
            Nishino,I.
  TITLE     ADSSL1 myopathy is the most common nemaline myopathy in Japan with
            variable clinical features
  JOURNAL   Neurology 95 (11), e1500-e1511 (2020)
   PUBMED   32646962
  REMARK    GeneRIF: ADSSL1 myopathy is the most common nemaline myopathy in
            Japan with variable clinical features.
REFERENCE   3  (bases 1 to 1723)
  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   4  (bases 1 to 1723)
  AUTHORS   Park,H.J., Shin,H.Y., Kim,S., Kim,S.H., Lee,Y., Lee,J.H.,
            Hong,J.M., Kim,S.M., Park,K.D., Choi,B.O., Lee,J.H. and Choi,Y.C.
  TITLE     Distal myopathy with ADSSL1 mutations in Korean patients
  JOURNAL   Neuromuscul Disord 27 (5), 465-472 (2017)
   PUBMED   28268051
  REMARK    GeneRIF: Study investigated the clinical manifestation in Korean
            patients with ADSSL1 mutations. Patients with ADSSL1 mutations
            demonstrated distal muscle weakness in adolescence, followed by
            quadriceps muscle weakness in the early 30s. All patients had mild
            facial weakness and two patients complained of easy fatigue while
            eating and chewing. Muscle biopsies and whole body muscle MR
            imaging findings are discussed.
REFERENCE   5  (bases 1 to 1723)
  AUTHORS   Park,H.J., Hong,Y.B., Choi,Y.C., Lee,J., Kim,E.J., Lee,J.S.,
            Mo,W.M., Ki,S.M., Kim,H.I., Kim,H.J., Hyun,Y.S., Hong,H.D., Nam,K.,
            Jung,S.C., Kim,S.B., Kim,S.H., Kim,D.H., Oh,K.W., Kim,S.H.,
            Yoo,J.H., Lee,J.E., Chung,K.W. and Choi,B.O.
  TITLE     ADSSL1 mutation relevant to autosomal recessive adolescent onset
            distal myopathy
  JOURNAL   Ann Neurol 79 (2), 231-243 (2016)
   PUBMED   26506222
  REMARK    GeneRIF: Mutations in ADSSL1 are the novel genetic cause of
            autosomal recessive adolescent onset distal myopathy.
REFERENCE   6  (bases 1 to 1723)
  AUTHORS   Rosenthal,S.L., Wang,X., Demirci,F.Y., Barmada,M.M., Ganguli,M.,
            Lopez,O.L. and Kamboh,M.I.
  TITLE     Beta-amyloid toxicity modifier genes and the risk of Alzheimer's
            disease
  JOURNAL   Am J Neurodegener Dis 1 (2), 191-198 (2012)
   PUBMED   22984654
REFERENCE   7  (bases 1 to 1723)
  AUTHORS   Sun,H., Li,N., Wang,X., Chen,T., Shi,L., Zhang,L., Wang,J., Wan,T.
            and Cao,X.
  TITLE     Molecular cloning and characterization of a novel muscle
            adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal
            cells
  JOURNAL   Mol Cell Biochem 269 (1-2), 85-94 (2005)
   PUBMED   15786719
  REMARK    GeneRIF: A novel muscle isozyme of adenylosuccinate synthetase,
            human AdSSL1, is identified from human bone marrow stromal cells.
REFERENCE   8  (bases 1 to 1723)
  AUTHORS   Iancu,C.V., Borza,T., Choe,J.Y., Fromm,H.J. and Honzatko,R.B.
  TITLE     Recombinant mouse muscle adenylosuccinate synthetase:
            overexpression, kinetics, and crystal structure
  JOURNAL   J Biol Chem 276 (45), 42146-42152 (2001)
   PUBMED   11560929
REFERENCE   9  (bases 1 to 1723)
  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   10 (bases 1 to 1723)
  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 BC047904.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_152328.4.
            
            Summary: This gene encodes a member of the adenylosuccinate
            synthase family of proteins. The encoded muscle-specific enzyme
            plays a role in the purine nucleotide cycle by catalyzing the first
            step in the conversion of inosine monophosphate (IMP) to adenosine
            monophosphate (AMP). Mutations in this gene may cause adolescent
            onset distal myopathy. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region and represents use of an alternate promoter, compared
            to variant 1. These differences result in a protein (isoform 2)
            with a shorter and distinct N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC047904.1, AY037159.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330877.7/ ENSP00000331260.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1723              BC047904.1         33-1755
FEATURES             Location/Qualifiers
     source          1..1723
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     gene            1..1723
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /note="adenylosuccinate synthase 1"
                     /db_xref="GeneID:122622"
                     /db_xref="HGNC:HGNC:20093"
                     /db_xref="MIM:612498"
     exon            1..234
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1416
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /EC_number="6.3.4.4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     adenylosuccinate synthetase isozyme 1; M-type
                     adenylosuccinate synthetase; adenylosuccinate synthetase,
                     basic isozyme; adenylosuccinate synthetase, muscle
                     isozyme; adSS 1; AMPSase 1; IMP--aspartate ligase 1;
                     adenylosuccinate synthase like 1; adenylosuccinate
                     synthetase-like 1"
                     /codon_start=1
                     /product="adenylosuccinate synthetase isozyme 1 isoform 2"
                     /protein_id="NP_689541.1"
                     /db_xref="CCDS:CCDS9990.1"
                     /db_xref="GeneID:122622"
                     /db_xref="HGNC:HGNC:20093"
                     /db_xref="MIM:612498"
                     /translation="MSGTRASNDRPPGAGGVKRGRLQQEAAATGSRVTVVLGAQWGDE
                     GKGKVVDLLATDADIISRCQGGNNAGHTVVVDGKEYDFHLLPSGIINTKAVSFIGNGV
                     VIHLPGLFEEAEKNEKKGLKDWEKRLIISDRAHLVFDFHQAVDGLQEVQRQAQEGKNI
                     GTTKKGIGPTYSSKAARTGLRICDLLSDFDEFSSRFKNLAHQHQSMFPTLEIDIEGQL
                     KRLKGFAERIRPMVRDGVYFMYEALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCT
                     VGGVCTGLGIPPQNIGDVYGVVKAYTTRVGIGAFPTEQINEIGGLLQTRGHEWGVTTG
                     RKRRCGWLDLMILRYAHMVNGFTALALTKLDILDVLGEVKVGVSYKLNGKRIPYFPAN
                     QEMLQKVEVEYETLPGWKADTTGARRWEDLPPQAQNYIRFVENHVGVAVKWVGVGKSR
                     ESMIQLF"
     exon            235..337
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            338..400
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            401..451
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            452..518
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            519..626
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            627..708
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            709..835
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            836..990
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1115
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1213
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1214..1363
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..1723
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1698..1703
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /note="hexamer: AATAAA"
     polyA_site      1723
                     /gene="ADSS1"
                     /gene_synonym="ADSSL1; MPD5"
                     /note="major polyA site"
ORIGIN      
        1 gggctcctgg ccgggccagc gcagcggaag agccaagcca gcatgtcggg gacccgagcc
       61 tccaacgacc ggccccccgg cgcaggcggc gtcaagcggg ggcggctgca gcaggaggcg
      121 gcggcgaccg gctcccgcgt gacggtggtg ctgggcgcgc agtgggggga cgagggcaaa
      181 ggcaaggtgg tggacctgct ggccacggac gccgacatca tcagccgctg ccaggggggc
      241 aacaacgccg gccacacggt ggtggtggat gggaaagagt acgacttcca cctgctgccc
      301 agcggcatca tcaacaccaa ggccgtgtcc ttcattggca acggggtggt catccacttg
      361 ccaggcttgt ttgaggaagc agagaagaat gaaaagaaag gcctgaagga ctgggagaag
      421 aggctcatca tctctgacag agcccacctt gtgtttgatt ttcaccaggc tgtcgacgga
      481 cttcaggaag tgcagcgcca ggcacaagag gggaagaata taggcaccac caagaaggga
      541 atcggaccaa cctactcttc caaagctgcc cggacaggcc tccgcatctg cgacctcctg
      601 tcagattttg atgagttttc ctccagattc aagaacctgg cccaccagca ccagtcgatg
      661 ttccccaccc tggaaataga cattgaaggc caactcaaaa ggctcaaggg ctttgctgag
      721 cggatcagac ccatggtccg agatggtgtt tactttatgt atgaggcact ccacggcccc
      781 cccaagaaga tcctggtgga gggtgccaac gccgccctcc tcgacattga cttcgggacc
      841 tacccctttg tgacttcatc caactgcacc gtgggcggtg tgtgcacggg cctgggcatc
      901 cccccgcaga acataggtga cgtgtatggc gtggtgaaag cctataccac acgtgtgggc
      961 atcggggcct tccccaccga gcagatcaac gagattggag gcctgctgca gacccgcggc
     1021 cacgagtggg gagtgaccac aggcaggaag aggcgctgcg gctggctcga cctgatgatt
     1081 ctaagatatg ctcacatggt caacggattc actgcgctgg ccctgacgaa gctggacatc
     1141 ctggacgtac tgggtgaggt taaagtcggt gtctcataca agctgaacgg gaaaaggatt
     1201 ccctatttcc cagctaacca ggagatgctt cagaaggtcg aagttgagta tgaaacgctg
     1261 cctgggtgga aagcagacac cacaggcgcc aggaggtggg aggacctgcc cccacaggcc
     1321 cagaactaca tccgctttgt ggagaatcac gtgggagtcg cagtcaaatg ggttggtgtt
     1381 ggcaagtcaa gagagtcgat gatccagctg ttttagtcac agactgagct gatcccaaca
     1441 ggccctggca gcgtctggac ttgtgtaaac agcagcagtc acgttcctcg gccgccacaa
     1501 ccaacaccaa agcaggaaaa ccattttctg tacttttata tttctgttca acctgttggt
     1561 ttctacaatg attttaaaca ttggaaagcc agccttgtgt atatttttaa aaattatatt
     1621 caaaatgagc caaagtgctc agagaccttc tatgacacat tagtgtcaca tggttgcgtg
     1681 tccagccgaa gcagtgtaat aaacatctcc aatggccact gaa
//
