LOCUS       NM_018686               1748 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytidine monophosphate N-acetylneuraminic acid
            synthetase (CMAS), transcript variant 1, mRNA.
ACCESSION   NM_018686
VERSION     NM_018686.6
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 1748)
  AUTHORS   Qu,R., Sang,Q., Wang,X., Xu,Y., Chen,B., Mu,J., Zhang,Z., Jin,L.,
            He,L. and Wang,L.
  TITLE     A homozygous mutation in CMAS causes autosomal recessive
            intellectual disability in a Kazakh family
  JOURNAL   Ann Hum Genet 84 (1), 46-53 (2020)
   PUBMED   31495922
  REMARK    GeneRIF: A homozygous mutation in CMAS causes autosomal recessive
            intellectual disability in a Kazakh family.
REFERENCE   2  (bases 1 to 1748)
  AUTHORS   Willems,A.P., Sun,L., Schulz,M.A., Tian,W., Ashikov,A., van
            Scherpenzeel,M., Hermans,E., Clausen,H., Yang,Z. and Lefeber,D.J.
  TITLE     Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential
            for de novo sialic acid biosynthesis
  JOURNAL   Biochim Biophys Acta Gen Subj 1863 (10), 1471-1479 (2019)
   PUBMED   31121216
REFERENCE   3  (bases 1 to 1748)
  AUTHORS   Ma,Y., Tian,S., Wang,Z., Wang,C., Chen,X., Li,W., Yang,Y. and He,S.
  TITLE     CMP-N-acetylneuraminic acid synthetase interacts with fragile X
            related protein 1
  JOURNAL   Mol Med Rep 14 (2), 1501-1508 (2016)
   PUBMED   27357083
  REMARK    GeneRIF: FXR1P interacts with CMAS, and that FXR1P may enhance the
            activation of sialic acid via interaction with CMAS, and increase
            GM1 levels to affect the development of the nervous system, thus
            providing evidence for further research into the pathogenesis of
            FXS.
REFERENCE   4  (bases 1 to 1748)
  AUTHORS   Carette,J.E., Guimaraes,C.P., Varadarajan,M., Park,A.S.,
            Wuethrich,I., Godarova,A., Kotecki,M., Cochran,B.H., Spooner,E.,
            Ploegh,H.L. and Brummelkamp,T.R.
  TITLE     Haploid genetic screens in human cells identify host factors used
            by pathogens
  JOURNAL   Science 326 (5957), 1231-1235 (2009)
   PUBMED   19965467
REFERENCE   5  (bases 1 to 1748)
  AUTHORS   Oschlies,M., Dickmanns,A., Haselhorst,T., Schaper,W., Stummeyer,K.,
            Tiralongo,J., Weinhold,B., Gerardy-Schahn,R., von Itzstein,M.,
            Ficner,R. and Munster-Kuhnel,A.K.
  TITLE     A C-terminal phosphatase module conserved in vertebrate CMP-sialic
            acid synthetases provides a tetramerization interface for the
            physiologically active enzyme
  JOURNAL   J Mol Biol 393 (1), 83-97 (2009)
   PUBMED   19666032
REFERENCE   6  (bases 1 to 1748)
  AUTHORS   Munster,A.K., Weinhold,B., Gotza,B., Muhlenhoff,M., Frosch,M. and
            Gerardy-Schahn,R.
  TITLE     Nuclear localization signal of murine CMP-Neu5Ac synthetase
            includes residues required for both nuclear targeting and enzymatic
            activity
  JOURNAL   J Biol Chem 277 (22), 19688-19696 (2002)
   PUBMED   11893746
REFERENCE   7  (bases 1 to 1748)
  AUTHORS   Angata,T., Varki,N.M. and Varki,A.
  TITLE     A second uniquely human mutation affecting sialic acid biology
  JOURNAL   J Biol Chem 276 (43), 40282-40287 (2001)
   PUBMED   11546777
REFERENCE   8  (bases 1 to 1748)
  AUTHORS   Lawrence,S.M., Huddleston,K.A., Tomiya,N., Nguyen,N., Lee,Y.C.,
            Vann,W.F., Coleman,T.A. and Betenbaugh,M.J.
  TITLE     Cloning and expression of human sialic acid pathway genes to
            generate CMP-sialic acids in insect cells
  JOURNAL   Glycoconj J 18 (3), 205-213 (2001)
   PUBMED   11602804
REFERENCE   9  (bases 1 to 1748)
  AUTHORS   Munster,A.K., Eckhardt,M., Potvin,B., Muhlenhoff,M., Stanley,P. and
            Gerardy-Schahn,R.
  TITLE     Mammalian cytidine 5'-monophosphate N-acetylneuraminic acid
            synthetase: a nuclear protein with evolutionarily conserved
            structural motifs
  JOURNAL   Proc Natl Acad Sci U S A 95 (16), 9140-9145 (1998)
   PUBMED   9689047
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA344740.1, AL832975.1 and
            DB527942.1.
            
            On Nov 23, 2018 this sequence version replaced NM_018686.5.
            
            Summary: This gene encodes an enzyme that converts
            N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate
            N-acetylneuraminic acid (CMP-NeuNAc). This process is important in
            the formation of sialylated glycoprotein and glycolipids. This
            modification plays a role in cell-cell communications and immune
            responses. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.640875.1,
                                           SRR1660807.49931.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229329.7/ ENSP00000229329.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DA344740.1         45-52
            9-1416              AL832975.1         1-1408
            1417-1748           DB527942.1         121-452
FEATURES             Location/Qualifiers
     source          1..1748
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..1748
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /note="cytidine monophosphate N-acetylneuraminic acid
                     synthetase"
                     /db_xref="GeneID:55907"
                     /db_xref="HGNC:HGNC:18290"
                     /db_xref="MIM:603316"
     exon            1..346
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1391
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /EC_number="2.7.7.43"
                     /note="CMP-N-acetylneuraminic acid synthase; CMP-Neu5Ac
                     synthetase; cytidine 5'-monophosphate N-acetylneuraminic
                     acid synthetase; CMP-NeuNAc synthetase;
                     CMP-N-acetylneuraminic acid synthetase; CMP-NeuNAc
                     synthase; CMP-sialic acid synthetase"
                     /codon_start=1
                     /product="N-acylneuraminate cytidylyltransferase"
                     /protein_id="NP_061156.1"
                     /db_xref="CCDS:CCDS8696.1"
                     /db_xref="GeneID:55907"
                     /db_xref="HGNC:HGNC:18290"
                     /db_xref="MIM:603316"
                     /translation="MDSVEKGAATSVSNPRGRPSRGRPPKLQRNSRGGQGRGVEKPPH
                     LAALILARGGSKGIPLKNIKHLAGVPLIGWVLRAALDSGAFQSVWVSTDHDEIENVAK
                     QFGAQVHRRSSEVSKDSSTSLDAIIEFLNYHNEVDIVGNIQATSPCLHPTDLQKVAEM
                     IREEGYDSVFSVVRRHQFRWSEIQKGVREVTEPLNLNPAKRPRRQDWDGELYENGSFY
                     FAKRHLIEMGYLQGGKMAYYEMRAEHSVDIDVDIDWPIAEQRVLRYGYFGKEKLKEIK
                     LLVCNIDGCLTNGHIYVSGDQKEIISYDVKDAIGISLLKKSGIEVRLISERACSKQTL
                     SSLKLDCKMEVSVSDKLAVVDEWRKEMGLCWKEVAYLGNEVSDEECLKRVGLSGAPAD
                     ACSTAQKAVGYICKCNGGRGAIREFAEHICLLMEKVNNSCQK"
     exon            347..489
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /inference="alignment:Splign:2.1.0"
     exon            490..645
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /inference="alignment:Splign:2.1.0"
     exon            646..779
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /inference="alignment:Splign:2.1.0"
     exon            780..874
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1046
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1200
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1748
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1723..1728
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /note="hexamer: AATAAA"
     polyA_site      1748
                     /gene="CMAS"
                     /gene_synonym="CSS"
                     /note="major polyA site"
ORIGIN      
        1 aggcggggat cgggcggcgc cgagctgagg tggtgaggga ctagctcccg gatgtggaga
       61 agctggggag aaggcgtggg aggaagatgg actcggtgga gaagggggcc gccacctccg
      121 tctccaaccc gcgggggcga ccgtcccggg gccggccgcc gaagctgcag cgcaactctc
      181 gcggcggcca gggccgaggt gtggagaagc ccccgcacct ggcagcccta attctggccc
      241 ggggaggcag caaaggcatc cccctgaaga acattaagca cctggcgggg gtcccgctca
      301 ttggctgggt cctgcgtgcg gccctggatt caggggcctt ccagagtgta tgggtttcga
      361 cagaccatga tgaaattgag aatgtggcca aacaatttgg tgcacaagtt catcgaagaa
      421 gttctgaagt ttcaaaagac agctctacct cactagatgc catcatagaa tttcttaatt
      481 atcataatga ggttgacatt gtaggaaata ttcaagctac ttctccatgt ttacatccta
      541 ctgatcttca aaaagttgca gaaatgattc gagaagaagg atatgattct gttttctctg
      601 ttgtgagacg ccatcagttt cgatggagtg aaattcagaa aggagttcgt gaagtgaccg
      661 aacctctgaa tttaaatcca gctaaacggc ctcgtcgaca agactgggat ggagaattat
      721 atgaaaatgg ctcattttat tttgctaaaa gacatttgat agagatgggt tacttgcagg
      781 gtggaaaaat ggcatactac gaaatgcgag ctgaacatag tgtggatata gatgtggata
      841 ttgattggcc tattgcagag caaagagtat taagatatgg ctattttggc aaagagaagc
      901 ttaaggaaat aaaacttttg gtttgcaata ttgatggatg tctcaccaat ggccacattt
      961 atgtatcagg agaccaaaaa gaaataatat cttatgatgt aaaagatgct attgggataa
     1021 gtttattaaa gaaaagtggt attgaggtga ggctaatctc agaaagggcc tgttcaaagc
     1081 agacgctgtc ttctttaaaa ctggattgca aaatggaagt cagtgtatca gacaagctag
     1141 cagttgtaga tgaatggaga aaagaaatgg gcctgtgctg gaaagaagtg gcatatcttg
     1201 gaaatgaagt gtctgatgaa gagtgcttga agagagtggg cctaagtggc gctcctgctg
     1261 atgcctgttc tactgcccag aaggctgttg gatacatttg caaatgtaat ggtggccgtg
     1321 gtgccatccg agaatttgca gagcacattt gcctactaat ggaaaaggtt aataattcat
     1381 gccaaaaata gaaattagcg taatattgag aaaaaaatga tacagccttc ttcagccagt
     1441 ttgcttttat ttttgattaa gtaaattcca tgttgtaatg ttacagagag tgtgatttgg
     1501 tttgtgatat atatatattg tgctctactt ttctctttac gcaagataat tatttagaga
     1561 ctgattacag tctttctcag atttttagta aatgcaagta agaacatcat caaagttcac
     1621 tttgtattgt accctgtaaa actgtgtgtt tgtgtgcttt caaagatgtt gggattttat
     1681 ttatctgggg acagtgtgta tggtaagaca tgcccttcta ttaataaaac tacatttctc
     1741 aaacttga
//
