LOCUS       NM_022900               3931 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens CAS1 domain containing 1 (CASD1), transcript variant
            1, mRNA.
ACCESSION   NM_022900
VERSION     NM_022900.5
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 3931)
  AUTHORS   Baumann,A.M., Bakkers,M.J., Buettner,F.F., Hartmann,M., Grove,M.,
            Langereis,M.A., de Groot,R.J. and Muhlenhoff,M.
  TITLE     9-O-Acetylation of sialic acids is catalysed by CASD1 via a
            covalent acetyl-enzyme intermediate
  JOURNAL   Nat Commun 6, 7673 (2015)
   PUBMED   26169044
  REMARK    GeneRIF: CASD1 is a sialate O-acetyltransferase and serves as key
            enzyme in the biosynthesis of 9-O-acetylated sialoglycans.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3931)
  AUTHORS   Arming,S., Wipfler,D., Mayr,J., Merling,A., Vilas,U., Schauer,R.,
            Schwartz-Albiez,R. and Vlasak,R.
  TITLE     The human Cas1 protein: a sialic acid-specific O-acetyltransferase?
  JOURNAL   Glycobiology 21 (5), 553-564 (2011)
   PUBMED   20947662
  REMARK    GeneRIF: human Cas1 protein is directly involved in O-acetylation
            of alpha2-8-linked sialic acids
REFERENCE   3  (bases 1 to 3931)
  AUTHORS   Janbon,G., Himmelreich,U., Moyrand,F., Improvisi,L. and Dromer,F.
  TITLE     Cas1p is a membrane protein necessary for the O-acetylation of the
            Cryptococcus neoformans capsular polysaccharide
  JOURNAL   Mol Microbiol 42 (2), 453-467 (2001)
   PUBMED   11703667
REFERENCE   4  (bases 1 to 3931)
  AUTHORS   Zimprich,A., Grabowski,M., Asmus,F., Naumann,M., Berg,D.,
            Bertram,M., Scheidtmann,K., Kern,P., Winkelmann,J.,
            Muller-Myhsok,B., Riedel,L., Bauer,M., Muller,T., Castro,M.,
            Meitinger,T., Strom,T.M. and Gasser,T.
  TITLE     Mutations in the gene encoding epsilon-sarcoglycan cause
            myoclonus-dystonia syndrome
  JOURNAL   Nat Genet 29 (1), 66-69 (2001)
   PUBMED   11528394
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002528.1, BC029543.1, AK123866.1, AF397424.2, AF355594.1 and
            AK024866.1.
            
            On Nov 23, 2018 this sequence version replaced NM_022900.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.8263.1, BC063284.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297273.9/ ENSP00000297273.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                AC002528.1         104239-104287
            50-211              BC029543.1         12-173
            212-1982            AK123866.1         1-1771
            1983-2760           AF397424.2         1854-2631
            2761-3126           AK123866.1         2550-2915
            3127-3879           AF355594.1         2871-3623
            3880-3931           AK024866.1         2032-2083
FEATURES             Location/Qualifiers
     source          1..3931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.3"
     gene            1..3931
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /note="CAS1 domain containing 1"
                     /db_xref="GeneID:64921"
                     /db_xref="HGNC:HGNC:16014"
                     /db_xref="MIM:611686"
     exon            1..409
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             277..2670
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /EC_number="2.3.1.45"
                     /note="isoform 1 is encoded by transcript variant 1;
                     O-acetyltransferase; CAS1 domain-containing protein 1;
                     WUGSC:H_GS542D18.2; sialate O-acetyltransferase;
                     N-acetylneuraminate 9-O-acetyltransferase; Capsule
                     synthesis 1; N-acetylneuraminate (7)9-O-acetyltransferase"
                     /codon_start=1
                     /product="N-acetylneuraminate (7)9-O-acetyltransferase
                     isoform 1"
                     /protein_id="NP_075051.4"
                     /db_xref="CCDS:CCDS5636.1"
                     /db_xref="GeneID:64921"
                     /db_xref="HGNC:HGNC:16014"
                     /db_xref="MIM:611686"
                     /translation="MAALAYNLGKREINHYFSVRSAKVLALVAVLLLAACHLASRRYR
                     GNDSCEYLLSSGRFLGEKVWQPHSCMMHKYKISEAKNCLVDKHIAFIGDSRIRQLFYS
                     FVKIINPQFKEEGNKHENIPFEDKTASVKVDFLWHPEVNGSMKQCIKVWTEDSIAKPH
                     VIVAGAATWSIKIHNGSSEALSQYKMNITSIAPLLEKLAKTSDVYWVLQDPVYEDLLS
                     ENRKMITNEKIDAYNEAAVSILNSSTRNSKSNVKMFSVSKLIAQETIMESLDGLHLPE
                     SSRETTAMILMNVYCNKILKPVDGSCCQPRPPVTLIQKLAACFFTLSIIGYLIFYIIH
                     RNAHRKNKPCTDLESGEEKKNIINTPVSSLEILLQSFCKLGLIMAYFYMCDRANLFMK
                     ENKFYTHSSFFIPIIYILVLGVFYNENTKETKVLNREQTDEWKGWMQLVILIYHISGA
                     STFLPVYMHIRVLVAAYLFQTGYGHFSYFWIKGDFGIYRVCQVLFRLNFLVVVLCIVM
                     DRPYQFYYFVPLVTVWFMVIYVTLALWPQIIQKKANGNCFWHFGLLLKLGFLLLFICF
                     LAYSQGAFEKIFSLWPLSKCFELKGNVYEWWFRWRLDRYVVFHGMLFAFIYLALQKRQ
                     ILSEGKGEPLFSNKISNFLLFISVVSFLTYSIWASSCKNKAECNELHPSVSVVQILAF
                     ILIRNIPGYARSVYSSFFAWFGKISLELFICQYHIWLAADTRGILVLIPGNPMLNIIV
                     STFIFVCVAHEISQITNDLAQIIIPKDNSSLLKRLACIAAFFCGLLILSSIQDKSKH"
     exon            410..506
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            507..627
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            628..672
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            673..735
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            736..780
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            781..904
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1119
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1542
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1632
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1633..1752
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1753..1909
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1910..1989
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1990..2091
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2232
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            2233..2310
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            2311..2403
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     exon            2404..3931
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3858..3863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /note="hexamer: AATAAA"
     polyA_site      3880
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /note="major polyA site"
     regulatory      3903..3908
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /note="hexamer: ATTAAA"
     polyA_site      3931
                     /gene="CASD1"
                     /gene_synonym="C7orf12; Cas1; Cas1p; NBLA04196; SOAT"
                     /note="major polyA site"
ORIGIN      
        1 gagacaggcg tccagggcgc ctggggaacc ggcacggcgg agcagcggcg gcggggctgg
       61 ggggaggccg ccgagtcggc cgcggccgag gaggggcagg cggaggtcgg gggcgccgcg
      121 gccgcggggt caggttcccc ggcgggaggc gcaggtggcg gcctggggag ctggcggccg
      181 ctcctcgcct ggctgcagcg gcggcagccc cagtgctgcc cctgtgcggc gcccctttcc
      241 cgctccgccg cgcactgttg tcatggagga accaagatgg cggctctggc ctacaacctg
      301 ggcaagcggg agatcaacca ctacttcagc gtgaggagcg ccaaggtgct ggcgctggtg
      361 gccgtgctgc tgctcgcagc gtgccacctc gcctcccgcc gctaccgagg caatgattcg
      421 tgtgaatacc ttctctcaag tggcagattt cttggagaga aagtttggca acctcacagt
      481 tgtatgatgc ataaatacaa aatcagtgaa gcaaagaact gccttgtaga taaacatatt
      541 gcatttattg gagattccag aattcgtcaa ttgttttatt cttttgtaaa aataattaat
      601 ccccaattca aagaagaagg aaataagcat gaaaacattc cttttgaaga caagactgca
      661 tcagttaaag tggattttct gtggcatcct gaagttaatg gttctatgaa acagtgtatc
      721 aaagtgtgga ctgaggattc cattgcaaag ccacatgtga ttgtagcagg agctgccaca
      781 tggtccatca agattcacaa tggtagcagt gaagcgcttt ctcaatataa aatgaacatc
      841 acctccatag caccactttt agaaaaattg gcaaagacta gtgatgttta ttgggtctta
      901 caagatcctg tttatgaaga tctattaagt gaaaatagga agatgatcac taatgagaag
      961 atagatgctt acaatgaagc tgcagtcagt attttgaata gtagcaccag aaattctaaa
     1021 tcaaatgtta agatgttcag tgtttccaaa ttaattgctc aagaaaccat catggaatct
     1081 ttggatggct tacatcttcc tgaatcgagc agagaaacta ctgcaatgat tcttatgaat
     1141 gtgtattgca ataagatttt gaagcctgta gatgggtcct gttgtcaacc tcggcctcct
     1201 gttactctca tacagaagct agctgcttgt tttttcactt tatctattat cggatattta
     1261 attttttaca taattcatcg taatgctcat cggaagaata agccgtgtac tgatttggaa
     1321 agtggagagg aaaagaaaaa tattatcaat acccctgtgt cttcattaga aatactttta
     1381 caatctttct gcaaacttgg cctgattatg gcatatttct atatgtgtga ccgtgcaaat
     1441 ctgttcatga aggaaaacaa attttataca cattcatctt tctttattcc aattatctac
     1501 attttggttt tgggagtatt ttataatgaa aatactaaag agactaaagt attaaataga
     1561 gaacaaacag acgaatggaa aggctggatg caacttgtga ttttgattta tcacatttct
     1621 ggagcaagta catttttgcc tgtatacatg cacattcgag ttctggttgc tgcatattta
     1681 tttcagacag ggtatgggca tttctcatac ttttggataa aaggagattt tggaatctat
     1741 agagtatgtc aggttttatt tcgtctcaat ttcctggtag tggtgttatg tatagtaatg
     1801 gatcgacctt atcaattcta ttactttgtc cccttggtca ctgtatggtt catggtcata
     1861 tatgttactt tagcactatg gccacaaata atccaaaaaa aagcaaacgg aaattgtttc
     1921 tggcattttg gcttactgtt gaaactaggc tttttgctgt tattcatatg ttttttggca
     1981 tattctcagg gtgcatttga gaagatcttt tctctttggc cattgtccaa gtgttttgaa
     2041 ctgaaaggga atgtatatga atggtggttc agatggaggt tagaccgtta tgtagttttc
     2101 cacggaatgc tgtttgcttt tatttatctg gctttgcaga agcgtcaaat actttctgaa
     2161 ggaaagggtg aacctctttt ttcaaacaaa atttcaaatt ttctgttgtt tatttcagta
     2221 gtttctttct tgacctattc catctgggct agcagttgta aaaacaaagc agagtgcaat
     2281 gaactccatc cgtctgtttc tgtggtacag attttagcct tcatcctaat aagaaacatc
     2341 cctggatatg cccgttcagt ttacagttca ttttttgctt ggtttggaaa aatttcatta
     2401 gagctattta tttgccagta tcacatatgg ctggcagcgg acacaagggg tatcttggta
     2461 ctgatacctg gaaaccctat gctcaacatc attgtcagca ctttcatatt tgtttgtgtg
     2521 gcacatgaaa tttctcagat cactaatgat cttgcacaga ttattattcc taaagataac
     2581 tcatctctct tgaaaaggtt ggcatgtata gctgcatttt tttgtggact cctcatctta
     2641 tcatccattc aagataaatc aaaacattag gttccaaaaa ttctaaaaaa cctaaactct
     2701 tcaggctacc tttgtgtgtc tctagaagag aaaagcatct atctggagat ataaatgtgt
     2761 atgtaaatat aaacgtttgt ggcaagagga cagttctgtg acatctgttg aacatatgtg
     2821 gttgtatata ttggaaatgt acatatccaa tatgaaatac taaaacaaac aaacaaacaa
     2881 aaaaccagaa tgcattgtat aggattgcat gtgaagtctt ttctactgaa tctatatttc
     2941 catttgtaag tgattttaag ttaacatatg aaggcaggga aatgattacc tttccagtaa
     3001 aaagtataga taatttaatt aacttagtga caccaccaag tgttttgata taactaaatt
     3061 tgtggtaata agactgtctg cacctgtatt cattgtggaa cttcctcttt cattggaaac
     3121 tttcttactc aagaatgacg gcagtattgt tttcttatat gtgcaatgaa gtggaatgat
     3181 aaacagtatg cctttaattt atatgtgttc ttgttctgat gttgtttcct gaaatgattt
     3241 ttcttcctaa ctgtggtttt cgggtatgca agcctaaatc tttgtacact ttgtctcaca
     3301 gaatagttct gaggctccat gacagggttt tgtcattgtt gatgttattg ttgcttcgtt
     3361 ttataaaaaa gccaaaattt tttttccaat ccaaacgttc acctgtttcc tttcctcaag
     3421 ctataccagt gtaataccag ttaccctgtg gatccattta atatgttatc cccactaatt
     3481 aattttcgta tattatttcc aatatttgga aagctcttta tagccatttg gtatttccta
     3541 ttacccacct cctattttaa atatttatca gtctaaactt gtgcagtgta gtaaacatgc
     3601 aagttgttac gattgagctg tattaccata agtagaattt taagtaaact ggtgaatttg
     3661 ggcaataaat gtttttgctt tttgtttgat ttttttttac aagctaactg ttagaggtat
     3721 acatttattt atctgttgta cagatttgat tatgatttta atgtttgaaa gattgcactt
     3781 gtttgctttt actatatgtg gggtaaaata tattttctgt tcacagtata tgaaaatatg
     3841 gagtaattta aacagtaaat aaacattctg tggatgctta tttttgtatt ggcaaagtat
     3901 caattaaact atatgtgttc tttttcaaaa a
//
