LOCUS       NM_010421               1853 bp    mRNA    linear   ROD 17-SEP-2024
DEFINITION  Mus musculus hexosaminidase A (Hexa), transcript variant 1, mRNA.
ACCESSION   NM_010421
VERSION     NM_010421.6
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1853)
  AUTHORS   Raha,S., Dutta,D., Paidi,R.K. and Pahan,K.
  TITLE     Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs
            Disease via Peroxisome Proliferator-Activated Receptor alpha
  JOURNAL   Cells 12 (24), 2791 (2023)
   PUBMED   38132111
  REMARK    Erratum:[Cells. 2024 Aug 19;13(16):1374. doi:
            10.3390/cells13161374. PMID: 39195290]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1853)
  AUTHORS   Sengul,T., Can,M., Ates,N. and Seyrantepe,V.
  TITLE     Autophagic flux is impaired in the brain tissue of Tay-Sachs
            disease mouse model
  JOURNAL   PLoS One 18 (3), e0280650 (2023)
   PUBMED   36928510
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1853)
  AUTHORS   Montgomery,M.K., Taddese,A.Z., Bayliss,J., Nie,S., Williamson,N.A.
            and Watt,M.J.
  TITLE     Hexosaminidase A (HEXA) regulates hepatic sphingolipid and
            lipoprotein metabolism in mice
  JOURNAL   FASEB J 35 (12), e22046 (2021)
   PUBMED   34800307
  REMARK    GeneRIF: Hexosaminidase A (HEXA) regulates hepatic sphingolipid and
            lipoprotein metabolism in mice.
REFERENCE   4  (bases 1 to 1853)
  AUTHORS   Para,C., Bose,P., Bruno,L., Freemantle,E., Taherzadeh,M., Pan,X.,
            Han,C., McPherson,P.S., Lacaille,J.C., Bonneil,E., Thibault,P.,
            O'Leary,C., Bigger,B., Morales,C.R., Di Cristo,G. and
            Pshezhetsky,A.V.
  TITLE     Early defects in mucopolysaccharidosis type IIIC disrupt excitatory
            synaptic transmission
  JOURNAL   JCI Insight 6 (15), e142073 (2021)
   PUBMED   34156977
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1853)
  AUTHORS   Kot,S., Karumuthil-Melethil,S., Woodley,E., Zaric,V., Thompson,P.,
            Chen,Z., Lykken,E., Keimel,J.G., Kaemmerer,W.F., Gray,S.J. and
            Walia,J.S.
  TITLE     Investigating Immune Responses to the scAAV9-HEXM Gene Therapy
            Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models
  JOURNAL   Int J Mol Sci 22 (13), 6751 (2021)
   PUBMED   34201771
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1853)
  AUTHORS   Oh,S.P., Taylor,R.W., Gerecke,D.R., Rochelle,J.M., Seldin,M.F. and
            Olsen,B.R.
  TITLE     The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes
            are localized on mouse chromosome 9 and human chromosome 6
  JOURNAL   Genomics 14 (2), 225-231 (1992)
   PUBMED   1427837
REFERENCE   7  (bases 1 to 1853)
  AUTHORS   Beccari,T., Hoade,J., Orlacchio,A. and Stirling,J.L.
  TITLE     Cloning and sequence analysis of a cDNA encoding the alpha-subunit
            of mouse beta-N-acetylhexosaminidase and comparison with the human
            enzyme
  JOURNAL   Biochem J 285 (Pt 2) (Pt 2), 593-596 (1992)
   PUBMED   1379046
REFERENCE   8  (bases 1 to 1853)
  AUTHORS   Seldin,M.F., Saunders,A.M., Rochelle,J.M. and Howard,T.A.
  TITLE     A proximal mouse chromosome 9 linkage map that further defines
            linkage groups homologous with segments of human chromosomes 11,
            15, and 19
  JOURNAL   Genomics 9 (4), 678-685 (1991)
   PUBMED   1674729
REFERENCE   9  (bases 1 to 1853)
  AUTHORS   Yasue,M., Serikawa,T. and Yamada,J.
  TITLE     Chromosomal assignments of 23 biochemical loci of the rat by using
            rat x mouse somatic cell hybrids
  JOURNAL   Cytogenet Cell Genet 57 (2-3), 142-148 (1991)
   PUBMED   1914521
REFERENCE   10 (bases 1 to 1853)
  AUTHORS   Gilbert,F., Kucherlapati,R., Creagan,R.P., Murnane,M.J.,
            Darlington,G.J. and Ruddle,F.H.
  TITLE     Tay-Sachs' and Sandhoff's diseases: the assignment of genes for
            hexosaminidase A and B to individual human chromosomes
  JOURNAL   Proc Natl Acad Sci U S A 72 (1), 263-267 (1975)
   PUBMED   1054503
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC123817.4.
            
            On Aug 8, 2022 this sequence version replaced NM_010421.5.
            
            Summary: This gene encodes a member of the glycosyl hydrolase 20
            family of proteins. The encoded preproprotein is proteolytically
            processed to generate the alpha subunit of the lysosomal enzyme
            beta-hexosaminidase. This enzyme, together with the cofactor GM2
            activator protein, catalyzes the degradation of the ganglioside
            GM2, and other molecules containing terminal N-acetyl hexosamines.
            Mice lacking the encoded protein exhibit accumulation of
            gangliosides in the brain and membranous cytoplasmic bodies in
            neurons. Certain mutations in the human ortholog of this gene cause
            Tay-Sachs disease. [provided by RefSeq, Aug 2016].
            
            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 :: BC010755.1, U07631.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-294               AC123817.4         80804-81097
            295-387             AC123817.4         95254-95346
            388-453             AC123817.4         96460-96525
            454-500             AC123817.4         97993-98039
            501-611             AC123817.4         98409-98519
            612-713             AC123817.4         99155-99256
            714-846             AC123817.4         100445-100577
            847-1027            AC123817.4         102018-102198
            1028-1111           AC123817.4         103064-103147
            1112-1184           AC123817.4         103417-103489
            1185-1368           AC123817.4         103988-104171
            1369-1459           AC123817.4         104345-104435
            1460-1564           AC123817.4         105004-105108
            1565-1853           AC123817.4         105942-106230
FEATURES             Location/Qualifiers
     source          1..1853
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 32.02 cM"
     gene            1..1853
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /note="hexosaminidase A"
                     /db_xref="GeneID:15211"
                     /db_xref="MGI:MGI:96073"
     exon            1..294
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            295..387
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            388..453
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            454..500
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            501..611
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            612..713
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            714..846
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            847..1027
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1111
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1184
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1368
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..1459
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1564
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1853
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1825..1830
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /note="hexamer: AATAAA"
     polyA_site      1853
                     /gene="Hexa"
                     /gene_synonym="Hex-1"
                     /note="major polyA site"
ORIGIN      
        1 cgtgggctca gcctgctgga aggggagctg gccggtgggc catggccggc tgcaggctct
       61 gggtttcgct gctgctggcg gcggcgttgg cttgcttggc cacggcactg tggccgtggc
      121 cccagtacat ccaaacctac caccggcgct acaccctgta ccccaacaac ttccagttcc
      181 ggtaccatgt cagttcggcc gcgcaggcgg gctgcgtcgt cctcgacgag gcctttcgac
      241 gctaccgtaa cctgctcttc ggttccggct cttggccccg acccagcttc tcaaataaac
      301 agcaaacgtt ggggaagaac attctggtgg tctccgtcgt cacagctgaa tgtaatgaat
      361 ttcctaattt ggagtcggta gaaaattaca ccctaaccat taatgatgac cagtgtttac
      421 tcgcctctga gactgtctgg ggcgctctcc gaggtctgga gactttcagt cagcttgttt
      481 ggaaatcagc tgagggcacg ttctttatca acaagacaaa gattaaagac tttcctcgat
      541 tccctcaccg gggcgtactg ctggatacat ctcgccatta cctgccattg tctagcatcc
      601 tggatacact ggatgtcatg gcatacaata aattcaacgt gttccactgg cacttggtgg
      661 acgactcttc cttcccatat gagagcttca ctttcccaga gctcaccaga aaggggtcct
      721 tcaaccctgt cactcacatc tacacagcac aggatgtgaa ggaggtcatt gaatacgcaa
      781 ggcttcgggg tatccgtgtg ctggcagaat ttgacactcc tggccacact ttgtcctggg
      841 ggccaggtgc ccctgggtta ttaacacctt gctactctgg gtctcatctc tctggcacat
      901 ttggaccggt gaaccccagt ctcaacagca cctatgactt catgagcaca ctcttcctgg
      961 agatcagctc agtcttcccg gacttttatc tccacctggg aggggatgaa gtcgacttca
     1021 cctgctggaa gtccaacccc aacatccagg ccttcatgaa gaaaaagggc tttactgact
     1081 tcaagcagct ggagtccttc tacatccaga cgctgctgga catcgtctct gattatgaca
     1141 agggctatgt ggtgtggcag gaggtatttg ataataaagt gaaggttcgg ccagatacaa
     1201 tcatacaggt gtggcgggaa gaaatgccag tagagtacat gttggagatg caagatatca
     1261 ccagggctgg cttccgggcc ctgctgtctg ctccctggta cctgaaccgt gtaaagtatg
     1321 gccctgactg gaaggacatg tacaaagtgg agcccctggc gtttcatggt acgcctgaac
     1381 agaaggctct ggtcattgga ggggaggcct gtatgtgggg agagtatgtg gacagcacca
     1441 acctggtccc cagactctgg cccagagcgg gtgccgtcgc tgagagactg tggagcagta
     1501 acctgacaac taatatagac tttgccttta aacgtttgtc gcatttccgt tgtgagctgg
     1561 tgaggagagg aatccaggcc cagcccatca gtgtaggcta ctgtgagcag gagtttgagc
     1621 agacttgagc caccagtgct gaacacccag gaggttgctg tcctttgagt cagctgcgct
     1681 gagcacccag gagggtgctg gccttaagag agcaggtccc ggggcagggc taatctttca
     1741 ctgcctcccg gccaggggag agcacccctt gcccgtgtgc ccctgtgact acagagaagg
     1801 aggctggtgc tggcactggt gttcaataaa gatctatgtg gcattttctc taa
//
