LOCUS       NM_001330542            2167 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens hexosaminidase D (HEXD), transcript variant 2, mRNA.
ACCESSION   NM_001330542 XM_005256347
VERSION     NM_001330542.2
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 2167)
  AUTHORS   Alteen,M.G., Oehler,V., Nemcovicova,I., Wilson,I.B., Vocadlo,D.J.
            and Gloster,T.M.
  TITLE     Mechanism of Human Nucleocytoplasmic Hexosaminidase D
  JOURNAL   Biochemistry 55 (19), 2735-2747 (2016)
   PUBMED   27149221
  REMARK    GeneRIF: The catalytically important residues are Asp148 and
            Glu149, with Glu149 serving as the general acid/base residue and
            Asp148 as the polarizing residue. HexD is inhibited by
            Gal-NAG-thiazoline (Ki = 420 nM).
REFERENCE   2  (bases 1 to 2167)
  AUTHORS   Pasztoi,M., Sodar,B., Misjak,P., Paloczi,K., Kittel,A., Toth,K.,
            Wellinger,K., Geher,P., Nagy,G., Lakatos,T., Falus,A. and
            Buzas,E.I.
  TITLE     The recently identified hexosaminidase D enzyme substantially
            contributes to the elevated hexosaminidase activity in rheumatoid
            arthritis
  JOURNAL   Immunol Lett 149 (1-2), 71-76 (2013)
   PUBMED   23099419
  REMARK    GeneRIF: the expression and disease relevance of the HEXDC gene in
            humans demonstrate the expression of this novel enzyme within the
            joints, and suggests that its activity may significantly contribute
            to the overall local exoglycosidase activity.
REFERENCE   3  (bases 1 to 2167)
  AUTHORS   Barrera-Chimal,J. and Bobadilla,N.A.
  TITLE     Are recently reported biomarkers helpful for early and accurate
            diagnosis of acute kidney injury?
  JOURNAL   Biomarkers 17 (5), 385-393 (2012)
   PUBMED   22515481
  REMARK    GeneRIF: Studies indicate the most studied biomarkers for acute
            kidney injury are neutrophil gelatinase-associated lipocalin-2,
            kidney injury molecule-1, IL-18, cystatin C,
            N-acetyl-beta-D-glucosaminidase, liver fatty-acid binding protein,
            and heat shock protein 72.
            Review article
REFERENCE   4  (bases 1 to 2167)
  AUTHORS   Lisowska-Myjak,B., Krych,A., Kolodziejczyk,A., Pachecka,J. and
            Gaciong,Z.
  TITLE     Urinary proteins, N-acetyl-beta-D-glucosaminidase activity and
            estimated glomerular filtration rate in hypertensive patients with
            normoalbuminuria and microalbuminuria
  JOURNAL   Nephrology (Carlton) 16 (4), 403-409 (2011)
   PUBMED   21265931
  REMARK    GeneRIF: In normoalbuminuric/microalbuminuric patients with
            essential hypertension renal impairment measured by e-GFR is
            related to the increased urinary NAG activity and
            albumin/creatinine ratio rather than elevated concentrations of
            individual proteins.
REFERENCE   5  (bases 1 to 2167)
  AUTHORS   Ren,L., Ji,J., Fang,Y., Jiang,S.H., Lin,Y.M., Bo,J., Qian,J.Y.,
            Xu,X.H. and Ding,X.Q.
  TITLE     Assessment of urinary N-acetyl-beta-glucosaminidase as an early
            marker of contrast-induced nephropathy
  JOURNAL   J Int Med Res 39 (2), 647-653 (2011)
   PUBMED   21672370
  REMARK    GeneRIF: The results suggest that, following coronary angiography
            and/or percutaneous coronary intervention, contrast-induced
            nephropathy (CIN) occurs to a certain degree and that NAG may be a
            useful early CIN marker.
REFERENCE   6  (bases 1 to 2167)
  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
REFERENCE   7  (bases 1 to 2167)
  AUTHORS   Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
            Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
            Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
            Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
            Birchmeier,W., Lehrach,H. and Wanker,E.E.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC132938.9.
            
            On Apr 10, 2019 this sequence version replaced NM_001330542.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.108959.1,
                                           SRR1660807.163230.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327949.15/ ENSP00000332634.9
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-394               AC132938.9         48179-48572         c
            395-529             AC132938.9         47036-47170         c
            530-639             AC132938.9         42416-42525         c
            640-727             AC132938.9         38274-38361         c
            728-892             AC132938.9         33097-33261         c
            893-1076            AC132938.9         31047-31230         c
            1077-1148           AC132938.9         30181-30252         c
            1149-1344           AC132938.9         29556-29751         c
            1345-1427           AC132938.9         27206-27288         c
            1428-1506           AC132938.9         25844-25922         c
            1507-1608           AC132938.9         25653-25754         c
            1609-1698           AC132938.9         25030-25119         c
            1699-2167           AC132938.9         24274-24742         c
FEATURES             Location/Qualifiers
     source          1..2167
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2167
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /note="hexosaminidase D"
                     /db_xref="GeneID:284004"
                     /db_xref="HGNC:HGNC:26307"
                     /db_xref="MIM:616864"
     exon            1..394
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            395..529
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     CDS             446..1906
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /EC_number="3.2.1.52"
                     /note="isoform 2 is encoded by transcript variant 2;
                     beta-hexosaminidase D; beta-N-acetylhexosaminidase;
                     N-acetyl-beta-galactosaminidase; hexosaminidase
                     domain-containing protein; hexosaminidase (glycosyl
                     hydrolase family 20, catalytic domain) containing;
                     hexosaminidase D, cytosolic"
                     /codon_start=1
                     /product="hexosaminidase D isoform 2"
                     /protein_id="NP_001317471.1"
                     /db_xref="CCDS:CCDS82231.1"
                     /db_xref="GeneID:284004"
                     /db_xref="HGNC:HGNC:26307"
                     /db_xref="MIM:616864"
                     /translation="MSGSTPFQMRLVHLDLKGAPPKVSYLSEIFPLFRALGANGLLIE
                     YEDMFPYEGPLRLLRAKYAYSPSEIKEILHLAGLNELEVIPLVQTFGHMEFVLKHTAF
                     AHLREVGSFPCTLNPHEAESLALVGAMIDQVLELHPGAQRLHIGCDEVYYLGEGEASR
                     RWLQQEQNSTGKLCLSHMRAVASGVKARRPSVTPLVWDDMLRDLPEDQLAASGVPQLV
                     EPVLWDYTADLDVHGKVLLMQKYRRCGFPQLWAASAFKGATGPSQAVPPVEHHLRNHV
                     QWLQVAGSGPTDSLQGIILTGWQRYDHYSVLCELLPAGVPSLAACLQLLLRGGFDEDV
                     KAKVENLLGISSLEKTDPVREGAGSFPGSNILALVTQVSLHLRSSVDALLEGNRYVTG
                     WFSPYHRQRKLIHPVMVQHIQPAALSLLAQWSTLVQELEAALQLAFYPDAVEEWLEEN
                     VHPSLQRLQALLQDLSEVSAPPLPPTSPGRDVAQDP"
     exon            530..639
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            640..727
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            728..892
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1076
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1148
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1344
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1427
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1506
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1608
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            1609..1698
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     exon            1699..2167
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2143..2148
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /note="hexamer: AATAAA"
     polyA_site      2167
                     /gene="HEXD"
                     /gene_synonym="HEXDC"
                     /note="major polyA site"
ORIGIN      
        1 agtcccgccc actccatggc cctgtccgcc gccgcagcgc gcgcccttcc cctcctcacc
       61 gctacctgct ccggttccgg cgctcggccg ctccgttgcc ctcgggcgcc ttggttgcgg
      121 ccctccgctg aggagccatc ggaccaggcc gccgcggagc cgggccggac gcgggcgcca
      181 ggcccgggga cgaacgccgt aacagggagc gcgaggcagg cacggcgcag ggacgcgagt
      241 gcgacgcgct cggccatcgg cccctgggct ggcggccagg cccgagcaat cggcggccga
      301 gcggggcggg gctcagagcg gaggcggcgg ccgcgagggc ggggcggccg ggcctggctg
      361 cgcccccgga cctcgcggga ccgcggcggc gcaggaagaa gtccccaagg agacttcgcc
      421 ataggagttc acaggaaata ttgaaatgtc aggttccact ccatttcaga tgagattagt
      481 tcatttagac cttaaaggag ctccaccaaa ggtctcgtac ctctcagaga tttttcctct
      541 gttccgtgcg ctaggtgcaa acggcctcct cattgagtat gaagacatgt ttccctacga
      601 gggccctctg aggctgctga gggccaagta cgcctacagc ccctctgaaa tcaaagagat
      661 cttgcatctg gctggactca atgagctgga ggtgattccc ttggtgcaga catttggaca
      721 catggagttt gtgctgaagc acacggcctt cgcccacctg cgggaggtgg gctccttccc
      781 ctgcaccctg aacccccacg aggcagagtc cctggcgctg gtgggcgcca tgattgacca
      841 ggtcctggag ctacacccag gcgcccagcg gctgcacatc gggtgtgatg aggtctatta
      901 cctcggagag ggggaggcct cgcgccggtg gctacagcaa gagcagaaca gcacggggaa
      961 gttgtgcctg tcacacatgc gggcggtggc cagcggcgtg aaggcccggc gccccagcgt
     1021 gacacccctg gtgtgggacg acatgctccg agacctgcct gaggaccagc tcgcagcgtc
     1081 cggggtgccg cagctggtgg agccggtgct ctgggactac acggccgacc tggatgtgca
     1141 cggcaaggtc ctcctcatgc agaagtaccg gcggtgcggc tttccgcagc tgtgggcagc
     1201 cagtgccttc aagggtgcca cggggcccag ccaggccgtg ccccctgttg agcaccacct
     1261 caggaaccac gtgcagtggc tgcaggtggc gggcagcggg cccacggact cactgcaggg
     1321 catcatcctg accggctggc agaggtacga ccactactct gtgctgtgcg agctgctgcc
     1381 cgcaggagtc ccgtccctgg ccgcctgcct gcagttgctt ctacgcggag gatttgatga
     1441 agatgttaaa gcgaaagtgg agaaccttct cgggatttcc agcctggaaa aaacggaccc
     1501 tgttagggag ggggccggct ccttccctgg cagcaacatc cttgcccttg tcacacaagt
     1561 cagcctccat ctgcgcagct ctgtggatgc gctgctggag ggcaacaggt atgtcactgg
     1621 ctggttcagc ccctaccacc gccagcggaa gctcatccac ccggtcatgg ttcagcacat
     1681 ccagcccgca gcgctcagcc tcctggcaca gtggagcacc ctcgtgcagg agctggaggc
     1741 tgccctgcag ctggctttct acccggatgc cgtggaggag tggctggagg aaaacgtgca
     1801 ccccagcctg cagcggctgc aagctctgct gcaggacctc agcgaggtgt ctgccccccc
     1861 gctgccaccc accagccctg gcagggacgt tgctcaggac ccctgagggg agagctcatg
     1921 ccagggggct cctgctggag gctggggggg ctctgcactg ccaaatggcc tgggcaatac
     1981 gggcccacgt gggcgtcgtg ccctctggcc cagcagtgtc ttgcccacac tcagttcctg
     2041 agggccctgg gcagcccctg ggggagagac tagaaaacac agaaggaagc agcacaggga
     2101 gacccgcttt gtgatctgca tgtgtgacac tgattctttg gaaataaaga gtggaagctg
     2161 caggtga
//
