LOCUS       NM_001146073            1969 bp    mRNA    linear   ROD 01-JUN-2024
DEFINITION  Mus musculus hexosaminidase D (Hexd), transcript variant 1, mRNA.
ACCESSION   NM_001146073
VERSION     NM_001146073.1
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 1969)
  AUTHORS   Keembiyehetty,C.N., Krzeslak,A., Love,D.C. and Hanover,J.A.
  TITLE     A lipid-droplet-targeted O-GlcNAcase isoform is a key regulator of
            the proteasome
  JOURNAL   J Cell Sci 124 (Pt 16), 2851-2860 (2011)
   PUBMED   21807949
  REMARK    GeneRIF: lipid-droplet-targeted isoform is a key regulator of the
            proteasome
REFERENCE   2  (bases 1 to 1969)
  AUTHORS   Tkatchenko,T.V., Moreno-Rodriguez,R.A., Conway,S.J.,
            Molkentin,J.D., Markwald,R.R. and Tkatchenko,A.V.
  TITLE     Lack of periostin leads to suppression of Notch1 signaling and
            calcific aortic valve disease
  JOURNAL   Physiol Genomics 39 (3), 160-168 (2009)
   PUBMED   19723774
REFERENCE   3  (bases 1 to 1969)
  AUTHORS   Gutternigg,M., Rendic,D., Voglauer,R., Iskratsch,T. and Wilson,I.B.
  TITLE     Mammalian cells contain a second nucleocytoplasmic hexosaminidase
  JOURNAL   Biochem J 419 (1), 83-90 (2009)
   PUBMED   19040401
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY296469.1, FM204886.1, BC056487.1 and AI481765.1.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC069960.1, FM204886.1 [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: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                BY296469.1         158-206
            50-1729             FM204886.1         1-1680
            1730-1956           BC056487.1         3695-3921
            1957-1969           AI481765.1         1-13                c
FEATURES             Location/Qualifiers
     source          1..1969
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 85.08 cM"
     gene            1..1969
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /note="hexosaminidase D"
                     /db_xref="GeneID:238023"
                     /db_xref="MGI:MGI:3605542"
     exon            1..133
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..1729
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /EC_number="3.2.1.52"
                     /note="isoform 1 is encoded by transcript variant 1;
                     beta-hexosaminidase D; beta-N-acetylhexosaminidase;
                     N-acetyl-beta-galactosaminidase; hexosaminidase
                     domain-containing protein; hexosaminidase (glycosyl
                     hydrolase family 20, catalytic domain) containing"
                     /codon_start=1
                     /product="hexosaminidase D isoform 1"
                     /protein_id="NP_001139545.1"
                     /db_xref="GeneID:238023"
                     /db_xref="MGI:MGI:3605542"
                     /translation="MSSPTPFKMRLVHLDLKGAPPKVSYLSEVFPLFHALGANGLLIE
                     YEDMFPYEGHLRLLRAKHAYSPSEVTEILRLARLSELEVIPLVQTFGHMEFVLKHAAF
                     AHLREVALFPNTLNPHEAESLALVQAMIDQILELHRDVRWLHIGCDEVYYLGEGETSK
                     QWLQQEQNSHAKLCLSHMQAVASHVLTQHPGVTPLVWDDMLRDIPQEQLKASGVPQLV
                     EPVLWDYGADLDVHGKVFLIGKYQECGFQRLWAASAFKGATGASQALPPVEHHIRNHE
                     LWLQVAGSGPKDALQGIILTGWQRYDHFSVLCELLPVGIPSLAACLQSLVHGALDYSA
                     SEPGHLYMDCVVRPGAPADCAATTFHMFTGKQPPGLAGAPQDAVPFAHSTQRSGVLSE
                     HFCLWTVSGGFAEDVRLRAERFLGVSSLEIADTVSEGAGSFPGSDIHALVTQISLHLR
                     SSVDTLLERNRYVTGWFSPYHRRRKLVHPVMIQHIQPEALSLLSRWNNLVQQLEVALQ
                     PVFYPDTIEEWLEENVLPSLQRLQDLLQDLGEAAARQPPPTSPGWDTGQNP"
     exon            134..243
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            244..331
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            332..496
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            497..680
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            681..752
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            753..948
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1031
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1329
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1431
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            1432..1521
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1965
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1932..1937
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /note="hexamer: AATAAA"
     polyA_site      1965
                     /gene="Hexd"
                     /gene_synonym="Hexdc"
                     /note="major polyA site"
ORIGIN      
        1 aagtcccaga cagagactct gttataggag tttacaaaaa aataccaaca tgtcatcacc
       61 cacgccattt aagatgagat tagttcattt ggaccttaaa ggagcgccgc caaaggtttc
      121 atatctctct gaggtttttc ccttgttcca tgcacttggt gcaaatggcc tcctcattga
      181 gtacgaagac atgtttccct atgagggcca cctgaggctg ctgagggcca agcatgcata
      241 cagcccgtcc gaggttacag agatcctgcg cctggccaga ctcagtgagc tggaagttat
      301 ccccttggtg cagacattcg gacacatgga gtttgtgcta aagcatgcag catttgcaca
      361 tctccgtgaa gtggctctct tccccaacac cctgaaccct cacgaggctg agtccctggc
      421 cttggtacaa gctatgatcg atcaaattct ggagctacac agggatgtcc ggtggctcca
      481 cattggctgt gacgaggtct actacttggg tgagggggaa acctcaaaac agtggctaca
      541 gcaggaacag aacagccatg cgaaattgtg cctgagccac atgcaggcag tagccagcca
      601 tgtgctgacc cagcaccctg gcgtaacacc cttggtgtgg gatgacatgc tacgggacat
      661 ccctcaggaa cagctaaaag catctggggt gcctcaactg gtggagcctg tcctctggga
      721 ctatggagct gacctggatg tccatggcaa agttttcctc ataggaaagt accaggagtg
      781 tggcttccag aggctgtggg ctgccagtgc cttcaagggg gccacaggag ctagtcaggc
      841 tctgccccct gttgagcacc acatcagaaa ccatgagctg tggctgcagg tggcaggcag
      901 tggaccaaag gatgctctac aaggaatcat cctgacgggc tggcagaggt acgaccactt
      961 ctctgtgctg tgtgagctgc ttccggtggg gatcccatcc ctggctgcct gcctacagtc
     1021 acttgtacat ggtgctctag actactccgc ctctgagcct ggacacttgt acatggactg
     1081 tgtggtgagg ccaggggctc ctgcagattg tgctgctaca acctttcaca tgttcactgg
     1141 aaagcagcca cctggcctgg ctggggctcc ccaagatgct gtgccttttg cccatagcac
     1201 tcaaaggtca ggggttctct ctgagcactt ctgcctgtgg acggtttcag gaggctttgc
     1261 tgaggatgtt aggctgagag cggaacgctt ccttggggtt tcaagcctgg agatagcgga
     1321 tactgtaagt gagggagctg gctccttccc tggcagtgac atccatgccc tcgtcacaca
     1381 aattagtctc cacctgcgca gctctgtgga cacacttctg gaaaggaaca ggtatgtcac
     1441 tggctggttc agcccctacc atcgtagacg gaagcttgtt cacccagtta tgatccagca
     1501 catacagccg gaggcactca gccttctaag taggtggaac aacctcgtgc agcagttgga
     1561 ggtggccctg cagccggtct tctacccgga caccatagag gagtggctgg aggagaatgt
     1621 gctcccgagt ctgcagcgac tgcaggatct gctgcaggac ctgggtgagg cggctgcccg
     1681 acagccacca cccaccagcc caggctggga cacagggcag aacccctgag aggctggggc
     1741 cctgtatatc agcctggaca ccaccaagat ttctgtttca ctggcccagc catgtggagc
     1801 ctgtgctctt cctgctgagc tccggacacc tgtgcagaca ggctctccaa ctgtatgaac
     1861 agtaactttg ggcaaagcag aaaacagaaa ggcacatttg caagttgcat gtagagcttt
     1921 attacttctg aaataaaaag accagtagaa gtggaagtcc caccaaaaa
//
