LOCUS       NM_054012               1532 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens argininosuccinate synthase 1 (ASS1), transcript
            variant 2, mRNA.
ACCESSION   NM_054012
VERSION     NM_054012.4
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 1532)
  AUTHORS   Dong,R., Zhang,K., Guo,H., Zhang,G., Lyu,Y., Gao,M., Gai,Z. and
            Liu,Y.
  TITLE     [Clinical and ASS1 gene variant analysis of three Chinese pedigrees
            affected with Citrullinemia type I]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (11), 1345-1349 (2023)
   PUBMED   37906139
  REMARK    GeneRIF: [Clinical and ASS1 gene variant analysis of three Chinese
            pedigrees affected with Citrullinemia type I].
REFERENCE   2  (bases 1 to 1532)
  AUTHORS   Fantone,S., Ermini,L., Piani,F., Di Simone,N., Barbaro,G.,
            Giannubilo,S.R., Gesuita,R., Tossetta,G. and Marzioni,D.
  TITLE     Downregulation of argininosuccinate synthase 1 (ASS1) is associated
            with hypoxia in placental development
  JOURNAL   Hum Cell 36 (3), 1190-1198 (2023)
   PUBMED   36995581
  REMARK    GeneRIF: Downregulation of argininosuccinate synthase 1 (ASS1) is
            associated with hypoxia in placental development.
REFERENCE   3  (bases 1 to 1532)
  AUTHORS   Daou,M., Souaid,M., Yammine,T., Khneisser,I., Mansour,H., Salem,N.,
            Nemr,A., Awwad,J., Moukarzel,A. and Farra,C.
  TITLE     Analysis of ASS1 gene in ten unrelated middle eastern families with
            citrullinemia type 1 identifies rare and novel variants
  JOURNAL   Mol Genet Genomic Med 11 (2), e2058 (2023)
   PUBMED   36680390
  REMARK    GeneRIF: Analysis of ASS1 gene in ten unrelated middle eastern
            families with citrullinemia type 1 identifies rare and novel
            variants.
REFERENCE   4  (bases 1 to 1532)
  AUTHORS   Bibi,K., Fatima,T., Sohrab,S., Haider,G., Zarina,S. and Ilyas,A.
  TITLE     Polymorphic Variants of ASS1 Gene Related to Arginine Metabolism
            and the Risk of HCC
  JOURNAL   Protein Pept Lett 30 (7), 587-596 (2023)
   PUBMED   37254538
  REMARK    GeneRIF: Polymorphic Variants of ASS1 Gene Related to Arginine
            Metabolism and the Risk of HCC.
REFERENCE   5  (bases 1 to 1532)
  AUTHORS   Engel,K., Hohne,W. and Haberle,J.
  TITLE     Mutations and polymorphisms in the human argininosuccinate
            synthetase (ASS1) gene
  JOURNAL   Hum Mutat 30 (3), 300-307 (2009)
   PUBMED   19006241
  REMARK    GeneRIF: a survey of the correlation between mutations in the ASS1
            gene and the respective clinical courses of citrullinemia type I as
            described so far (Review)
            Review article
REFERENCE   6  (bases 1 to 1532)
  AUTHORS   Quinonez,S.C. and Lee,K.N.
  TITLE     Citrullinemia Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301631
REFERENCE   7  (bases 1 to 1532)
  AUTHORS   Ah Mew,N., Simpson,K.L., Gropman,A.L., Lanpher,B.C., Chapman,K.A.
            and Summar,M.L.
  TITLE     Urea Cycle Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301396
REFERENCE   8  (bases 1 to 1532)
  AUTHORS   Dhanakoti,S.N., Brosnan,M.E., Herzberg,G.R. and Brosnan,J.T.
  TITLE     Cellular and subcellular localization of enzymes of arginine
            metabolism in rat kidney
  JOURNAL   Biochem J 282 (Pt 2) (Pt 2), 369-375 (1992)
   PUBMED   1312326
REFERENCE   9  (bases 1 to 1532)
  AUTHORS   Carritt,B., Goldfarb,P.S., Hooper,M.L. and Slack,C.
  TITLE     Chromosome assignment of a human gene for argininosuccinate
            synthetase expression in Chinese hamsterxhuman somatic cell hybrids
  JOURNAL   Exp Cell Res 106 (1), 71-78 (1977)
   PUBMED   852520
REFERENCE   10 (bases 1 to 1532)
  AUTHORS   Carritt,B.
  TITLE     Somatic cell genetic evidence for the presence of a gene for
            citrullinemia on human chromosome 9
  JOURNAL   Cytogenet Cell Genet 19 (1), 44-48 (1977)
   PUBMED   891260
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB496935.1 and BC013224.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_054012.3.
            
            Summary: The protein encoded by this gene catalyzes the penultimate
            step of the arginine biosynthetic pathway. There are approximately
            10 to 14 copies of this gene including the pseudogenes scattered
            across the human genome, among which the one located on chromosome
            9 appears to be the only functional gene for argininosuccinate
            synthetase. Mutations in the chromosome 9 copy of this gene cause
            citrullinemia. Two transcript variants encoding the same protein
            have been found for this gene. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein.
            
            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 :: SRR5189658.119771.1,
                                           SRR5189658.113619.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000352480.10/ ENSP00000253004.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DB496935.1         255-262
            9-1532              BC013224.1         1-1524
FEATURES             Location/Qualifiers
     source          1..1532
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..1532
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /note="argininosuccinate synthase 1"
                     /db_xref="GeneID:445"
                     /db_xref="HGNC:HGNC:758"
                     /db_xref="MIM:603470"
     exon            1..35
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            36..145
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1279
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /EC_number="6.3.4.5"
                     /note="argininosuccinate synthetase 1;
                     citrulline-aspartate ligase; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="argininosuccinate synthase"
                     /protein_id="NP_446464.1"
                     /db_xref="CCDS:CCDS6933.1"
                     /db_xref="GeneID:445"
                     /db_xref="HGNC:HGNC:758"
                     /db_xref="MIM:603470"
                     /translation="MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDF
                     EEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSSALYEDRYLLGTSLARPCIARKQ
                     VEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
                     MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPN
                     TPDILEIEFKKGVPVKVTNVKDGTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGM
                     KSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAELVYTGFWHSPECEFV
                     RHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFI
                     NINSLRLKEYHRLQSKVTAK"
     exon            146..214
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            215..403
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            404..460
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            461..535
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            536..606
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            607..637
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            638..728
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            729..813
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            814..878
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            879..1010
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..1167
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1233
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1532
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1503..1508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /note="hexamer: ATTAAA"
     polyA_site      1513
                     /gene="ASS1"
                     /gene_synonym="ASS; CTLN1"
                     /note="major polyA site"
ORIGIN      
        1 cctgctctgc cgcctgccac cgctgcccga gcccgacgct atgtccagca aaggctccgt
       61 ggttctggcc tacagtggcg gcctggacac ctcgtgcatc ctcgtgtggc tgaaggaaca
      121 aggctatgac gtcattgcct atctggccaa cattggccag aaggaagact tcgaggaagc
      181 caggaagaag gcactgaagc ttggggccaa aaaggtgttc attgaggatg tcagcaggga
      241 gtttgtggag gagttcatct ggccggccat ccagtccagc gcactgtatg aggaccgcta
      301 cctcctgggc acctctcttg ccaggccctg catcgcccgc aaacaagtgg aaatcgccca
      361 gcgggagggg gccaagtatg tgtcccacgg cgccacagga aaggggaacg atcaggtccg
      421 gtttgagctc agctgctact cactggcccc ccagataaag gtcattgctc cctggaggat
      481 gcctgaattc tacaaccggt tcaagggccg caatgacctg atggagtacg caaagcaaca
      541 cgggattccc atcccggtca ctcccaagaa cccgtggagc atggatgaga acctcatgca
      601 catcagctac gaggctggaa tcctggagaa ccccaagaac caagcgcctc caggtctcta
      661 cacgaagacc caggacccag ccaaagcccc caacacccct gacattctcg agatcgagtt
      721 caaaaaaggg gtccctgtga aggtgaccaa cgtcaaggat ggcaccaccc accagacctc
      781 cttggagctc ttcatgtacc tgaacgaagt cgcgggcaag catggcgtgg gccgtattga
      841 catcgtggag aaccgcttca ttggaatgaa gtcccgaggt atctacgaga ccccagcagg
      901 caccatcctt taccatgctc atttagacat cgaggccttc accatggacc gggaagtgcg
      961 caaaatcaaa caaggcctgg gcttgaaatt tgctgagctg gtgtataccg gtttctggca
     1021 cagccctgag tgtgaatttg tccgccactg catcgccaag tcccaggagc gagtggaagg
     1081 gaaagtgcag gtgtccgtcc tcaagggcca ggtgtacatc ctcggccggg agtccccact
     1141 gtctctctac aatgaggagc tggtgagcat gaacgtgcag ggtgattatg agccaactga
     1201 tgccaccggg ttcatcaaca tcaattccct caggctgaag gaatatcatc gtctccagag
     1261 caaggtcact gccaaataga cccgtgtaca atgaggagct ggggcctcct caatttgcag
     1321 atcccccaag tacaggcgct aattgttgtg ataatttgta attgtgactt gttctccccg
     1381 gctggcagcg tagtggggct gccaggcccc agctttgttc cctggtcccc ctgaagcctg
     1441 caaacgttgt catcgaaggg aagggtgggg ggcagctgcg gtggggagct ataaaaatga
     1501 caattaaaag agacactagt cttttatttc ta
//
