LOCUS       NM_000263               2475 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens N-acetyl-alpha-glucosaminidase (NAGLU), mRNA.
ACCESSION   NM_000263
VERSION     NM_000263.4
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 2475)
  AUTHORS   Liang,S., Luo,D., Hu,L., Fang,M., Li,J., Deng,J., Fang,H.,
            Zhang,H., He,L., Xu,J., Liang,Y. and Chen,C.
  TITLE     Variations of urinary N-acetyl-beta-D-glucosaminidase levels and
            its performance in detecting acute kidney injury under different
            thyroid hormones levels: a prospectively recruited, observational
            study
  JOURNAL   BMJ Open 12 (3), e055787 (2022)
   PUBMED   35241468
  REMARK    GeneRIF: Variations of urinary N-acetyl-beta-D-glucosaminidase
            levels and its performance in detecting acute kidney injury under
            different thyroid hormones levels: a prospectively recruited,
            observational study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2475)
  AUTHORS   Beneto,N., Cozar,M., Gort,L., Pacheco,L., Vilageliu,L., Grinberg,D.
            and Canals,I.
  TITLE     Generation of two NAGLU-mutated homozygous cell lines from healthy
            induced pluripotent stem cells using CRISPR/Cas9 to model
            Sanfilippo B syndrome
  JOURNAL   Stem Cell Res 42, 101668 (2020)
   PUBMED   31825816
  REMARK    GeneRIF: Generation of two NAGLU-mutated homozygous cell lines from
            healthy induced pluripotent stem cells using CRISPR/Cas9 to model
            Sanfilippo B syndrome.
REFERENCE   3  (bases 1 to 2475)
  AUTHORS   Birrane,G., Dassier,A.L., Romashko,A., Lundberg,D., Holmes,K.,
            Cottle,T., Norton,A.W., Zhang,B., Concino,M.F. and Meiyappan,M.
  TITLE     Structural characterization of the alpha-N-acetylglucosaminidase, a
            key enzyme in the pathogenesis of Sanfilippo syndrome B
  JOURNAL   J Struct Biol 205 (3), 65-71 (2019)
   PUBMED   30802506
  REMARK    GeneRIF: Structural characterization of the NAGLU, a key enzyme in
            the pathogenesis of Sanfilippo syndrome B, has been reported.
REFERENCE   4  (bases 1 to 2475)
  AUTHORS   Choi,Y., Kwon,C.H., Lee,S.J., Park,J., Shin,J.Y. and Park,D.Y.
  TITLE     Integrative analysis of oncogenic fusion genes and their functional
            impact in colorectal cancer
  JOURNAL   Br J Cancer 119 (2), 230-240 (2018)
   PUBMED   29955133
  REMARK    GeneRIF: we identified and characterised oncogenic fusion genes and
            their function in CRC, and implicated NAGLU-IKZF3 and RNF121-FOLR2
            as novel molecular targets for personalised medicine development.
REFERENCE   5  (bases 1 to 2475)
  AUTHORS   Zhao,Z., Yazdani,A., Shen,Y., Sun,Z., Bailey,J., Caskey,C.T. and
            Lee,C.C.
  TITLE     Molecular dissection of a cosmid from a gene-rich region in 17q21
            and characterization of a candidate gene for
            alpha-N-acetylglucosaminidase with two cDNA isoforms
  JOURNAL   Mamm Genome 7 (9), 686-690 (1996)
   PUBMED   8703123
  REMARK    Erratum:[Mamm Genome 1997 Feb;8(2):161]
REFERENCE   6  (bases 1 to 2475)
  AUTHORS   Zhao,H.G., Li,H.H., Bach,G., Schmidtchen,A. and Neufeld,E.F.
  TITLE     The molecular basis of Sanfilippo syndrome type B
  JOURNAL   Proc Natl Acad Sci U S A 93 (12), 6101-6105 (1996)
   PUBMED   8650226
REFERENCE   7  (bases 1 to 2475)
  AUTHORS   Wagner,V.F. and Northrup,H.
  TITLE     Mucopolysaccharidosis Type III
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31536183
REFERENCE   8  (bases 1 to 2475)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   9  (bases 1 to 2475)
  AUTHORS   Sasaki,T., Sukegawa,K., Masue,M., Fukuda,S., Tomatsu,S. and Orii,T.
  TITLE     Purification and partial characterization of
            alpha-N-acetylglucosaminidase from human liver
  JOURNAL   J Biochem 110 (5), 842-846 (1991)
   PUBMED   1783617
REFERENCE   10 (bases 1 to 2475)
  AUTHORS   Vance,J.M., Pericak-Vance,M.A., Elston,R.C., Conneally,P.M.,
            Namboodiri,K.K., Wappner,R.S. and Yu,P.L.
  TITLE     Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase
            in black and white populations: a new polymorphism
  JOURNAL   Am J Med Genet 7 (2), 131-140 (1980)
   PUBMED   6781343
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF435029.1, U40846.1,
            AI299657.1 and BQ012843.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000263.3.
            
            Summary: This gene encodes an enzyme that degrades heparan sulfate
            by hydrolysis of terminal N-acetyl-D-glucosamine residues in
            N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause
            of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as
            Sanfilippo syndrome B. This disease is characterized by the
            lysosomal accumulation and urinary excretion of heparan sulfate.
            [provided by RefSeq, Jul 2008].
            
            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 :: HM005331.1, U40846.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225927.7/ ENSP00000225927.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-289               BF435029.1         1-289               c
            290-454             U40846.1           359-523
            455-455             AI299657.1         423-423             c
            456-2240            U40846.1           525-2309
            2241-2475           BQ012843.1         16-250              c
FEATURES             Location/Qualifiers
     source          1..2475
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2475
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="N-acetyl-alpha-glucosaminidase"
                     /db_xref="GeneID:4669"
                     /db_xref="HGNC:HGNC:7632"
                     /db_xref="MIM:609701"
     exon            1..415
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..2264
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /EC_number="3.2.1.50"
                     /note="alpha-N-acetylglucosaminidase;
                     N-acetylglucosaminidase, alpha; testicular tissue protein
                     Li 18"
                     /codon_start=1
                     /product="alpha-N-acetylglucosaminidase precursor"
                     /protein_id="NP_000254.2"
                     /db_xref="CCDS:CCDS11427.1"
                     /db_xref="GeneID:4669"
                     /db_xref="HGNC:HGNC:7632"
                     /db_xref="MIM:609701"
                     /translation="MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGP
                     AADFSVSVERALAAKPGLDTYSLGGGGAARVRVRGSTGVAAAAGLHRYLRDFCGCHVA
                     WSGSQLRLPRPLPAVPGELTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALN
                     GINLALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSW
                     HIKQLYLQHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYS
                     CSFLLAPEDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAV
                     YEAMTAVDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPRGRLLVLDLFAESQPVYT
                     RTASFQGQPFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQ
                     NEVVYSLMAELGWRKDPVPDLAAWVTSFAARRYGVSHPDAGAAWRLLLRSVYNCSGEA
                     CRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDLLDLTRQ
                     AVQELVSLYYEEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSWLEQ
                     ARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPRWRLFLEAL
                     VDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVA
                     GSW"
     exon            416..563
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /inference="alignment:Splign:2.1.0"
     exon            564..710
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /inference="alignment:Splign:2.1.0"
     exon            711..796
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /inference="alignment:Splign:2.1.0"
     exon            797..1053
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..2475
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2447..2452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="hexamer: ATTAAA"
     polyA_site      2475
                     /gene="NAGLU"
                     /gene_synonym="CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD"
                     /note="major polyA site"
ORIGIN      
        1 ctggccgtcg cgggacccgc aggactgaga ccatggaggc ggtggcggtg gccgcggcgg
       61 tgggggtcct tctcctggcc ggggccgggg gcgcggcagg cgacgaggcc cgggaggcgg
      121 cggccgtgcg ggcgctcgtg gcccggctgc tggggccagg ccccgcggcc gacttctccg
      181 tgtcggtgga gcgcgctctg gctgccaagc cgggcttgga cacctacagc ctgggcggcg
      241 gcggcgcggc gcgcgtgcgg gtgcgcggct ccacgggcgt ggcggccgcc gcggggctgc
      301 accgctacct gcgcgacttc tgtggctgcc acgtggcctg gtccggctct cagctgcgcc
      361 tgccgcggcc actgccagcc gtgccggggg agctgaccga ggccacgccc aacaggtacc
      421 gctattacca gaatgtgtgc acgcaaagct actctttcgt gtggtgggac tgggcccgct
      481 gggagcgaga gatagactgg atggcgctga atggcatcaa cctggcactg gcctggagcg
      541 gccaggaggc catctggcag cgggtgtacc tggccttggg cctgacccag gcagagatca
      601 atgagttctt tactggtcct gccttcctgg cctgggggcg aatgggcaac ctgcacacct
      661 gggatggccc cctgcccccc tcctggcaca tcaagcagct ttacctgcag caccgggtcc
      721 tggaccagat gcgctccttc ggcatgaccc cagtgctgcc tgcattcgcg gggcatgttc
      781 ccgaggctgt caccagggtg ttccctcagg tcaatgtcac gaagatgggc agttggggcc
      841 actttaactg ttcctactcc tgctccttcc ttctggctcc ggaagacccc atattcccca
      901 tcatcgggag cctcttcctg cgagagctga tcaaagagtt tggcacagac cacatctatg
      961 gggccgacac tttcaatgag atgcagccac cttcctcaga gccctcctac cttgccgcag
     1021 ccaccactgc cgtctatgag gccatgactg cagtggatac tgaggctgtg tggctgctcc
     1081 aaggctggct cttccagcac cagccgcagt tctgggggcc cgcccagatc agggctgtgc
     1141 tgggagctgt gccccgtggc cgcctcctgg ttctggacct gtttgctgag agccagcctg
     1201 tgtatacccg cactgcctcc ttccagggcc agcccttcat ctggtgcatg ctgcacaact
     1261 ttgggggaaa ccatggtctt tttggagccc tagaggctgt gaacggaggc ccagaagctg
     1321 cccgcctctt ccccaactcc accatggtag gcacgggcat ggcccccgag ggcatcagcc
     1381 agaacgaagt ggtctattcc ctcatggctg agctgggctg gcgaaaggac ccagtgccag
     1441 atttggcagc ctgggtgacc agctttgccg cccggcggta tggggtctcc cacccggacg
     1501 caggggcagc gtggaggcta ctgctccgga gtgtgtacaa ctgctccggg gaggcctgca
     1561 ggggccacaa tcgtagcccg ctggtcaggc ggccgtccct acagatgaat accagcatct
     1621 ggtacaaccg atctgatgtg tttgaggcct ggcggctgct gctcacatct gctccctccc
     1681 tggccaccag ccccgccttc cgctacgacc tgctggacct cactcggcag gcagtgcagg
     1741 agctggtcag cttgtactat gaggaggcaa gaagcgccta cctgagcaag gagctggcct
     1801 ccctgttgag ggctggaggc gtcctggcct atgagctgct gccggcactg gacgaggtgc
     1861 tggctagtga cagccgcttc ttgctgggca gctggctaga gcaggcccga gcagcggcag
     1921 tcagtgaggc cgaggccgat ttctacgagc agaacagccg ctaccagctg accttgtggg
     1981 ggccagaagg caacatcctg gactatgcca acaagcagct ggcggggttg gtggccaact
     2041 actacacccc tcgctggcgg cttttcctgg aggcgctggt tgacagtgtg gcccagggca
     2101 tccctttcca acagcaccag tttgacaaaa atgtcttcca actggagcag gccttcgttc
     2161 tcagcaagca gaggtacccc agccagccgc gaggagacac tgtggacctg gccaagaaga
     2221 tcttcctcaa atattacccc cgctgggtgg ccggctcttg gtgatagatt cgccaccact
     2281 gggccttgtt ttccgctaat tccagggcag attccagggc ccagagctgg acagacatca
     2341 caggataacc caggcctggg aggaggcccc acggcctgct ggtggggtct gacctggggg
     2401 gattggaggg aaatgacctg ccctccacca ccacccaaag tgtgggatta aagtactgtt
     2461 ttctttccac ttaaa
//
