LOCUS       NM_016256               2203 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens N-acetylglucosamine-1-phosphodiester
            alpha-N-acetylglucosaminidase (NAGPA), mRNA.
ACCESSION   NM_016256
VERSION     NM_016256.4
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 2203)
  AUTHORS   Carmona,E.G., Garcia-Gimenez,J.A., Lopez-Mejias,R., Khor,C.C.,
            Lee,J.K., Taskiran,E., Ozen,S., Hocevar,A., Liu,L., Gorenjak,M.,
            Potocnik,U., Kiryluk,K., Ortego-Centeno,N., Cid,M.C.,
            Hernandez-Rodriguez,J., Castaneda,S., Gonzalez-Gay,M.A.,
            Burgner,D., Martin,J. and Marquez,A.
  CONSRTM   Spanish IgA Vasculitis Consortium;* International Kawasaki Disease
            Genetics Consortium
  TITLE     Identification of a shared genetic risk locus for Kawasaki disease
            and immunoglobulin A vasculitis by a cross-phenotype meta-analysis
  JOURNAL   Rheumatology (Oxford) 61 (3), 1204-1210 (2022)
   PUBMED   33993232
  REMARK    GeneRIF: Identification of a shared genetic risk locus for Kawasaki
            disease and immunoglobulin A vasculitis by a cross-phenotype
            meta-analysis.
REFERENCE   2  (bases 1 to 2203)
  AUTHORS   Gorelik,A., Illes,K. and Nagar,B.
  TITLE     Crystal Structure of the Mannose-6-Phosphate Uncovering Enzyme
  JOURNAL   Structure 28 (4), 426-436 (2020)
   PUBMED   32109365
  REMARK    GeneRIF: Crystal Structure of the Mannose-6-Phosphate Uncovering
            Enzyme.
REFERENCE   3  (bases 1 to 2203)
  AUTHORS   Frigerio-Domingues,C.E., Gkalitsiou,Z., Zezinka,A., Sainz,E.,
            Gutierrez,J., Byrd,C., Webster,R. and Drayna,D.
  TITLE     Genetic factors and therapy outcomes in persistent developmental
            stuttering
  JOURNAL   J Commun Disord 80, 11-17 (2019)
   PUBMED   31003007
  REMARK    GeneRIF: We evaluated 51 stuttering individuals with a mutation in
            either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene. Mutation carriers
            achieved significantly less resolution in PSI following therapy,
            with PSI scores showing significantly less improvement in
            individuals who carry a mutation (p = 0.0157, RR = 1.75, OR = 2.92)
            while the group difference in DWS between carriers and non-carriers
            was statistically not significant.
REFERENCE   4  (bases 1 to 2203)
  AUTHORS   Kazemi,N., Estiar,M.A., Fazilaty,H. and Sakhinia,E.
  TITLE     Variants in GNPTAB, GNPTG and NAGPA genes are associated with
            stutterers
  JOURNAL   Gene 647, 93-100 (2018)
   PUBMED   29289611
  REMARK    GeneRIF: 14 variations were found in GNPTAB, GNPTG and NAGPA genes.
REFERENCE   5  (bases 1 to 2203)
  AUTHORS   Kang,C. and Drayna,D.
  TITLE     A role for inherited metabolic deficits in persistent developmental
            stuttering
  JOURNAL   Mol Genet Metab 107 (3), 276-280 (2012)
   PUBMED   22884963
  REMARK    GeneRIF: To date mutations in GNPTAB, GNPTG, and NAGPA have been
            associated with stuttering. These genes encode the lysosomal enzyme
            targeting pathway, defective in mucolipidosis. (Review)
            Review article
REFERENCE   6  (bases 1 to 2203)
  AUTHORS   Lee,W.S., Rohrer,J., Kornfeld,R. and Kornfeld,S.
  TITLE     Multiple signals regulate trafficking of the mannose
            6-phosphate-uncovering enzyme
  JOURNAL   J Biol Chem 277 (5), 3544-3551 (2002)
   PUBMED   11723124
REFERENCE   7  (bases 1 to 2203)
  AUTHORS   Rohrer,J. and Kornfeld,R.
  TITLE     Lysosomal hydrolase mannose 6-phosphate uncovering enzyme resides
            in the trans-Golgi network
  JOURNAL   Mol Biol Cell 12 (6), 1623-1631 (2001)
   PUBMED   11408573
REFERENCE   8  (bases 1 to 2203)
  AUTHORS   Kornfeld,R., Bao,M., Brewer,K., Noll,C. and Canfield,W.
  TITLE     Molecular cloning and functional expression of two splice forms of
            human N-acetylglucosamine-1-phosphodiester
            alpha-N-acetylglucosaminidase
  JOURNAL   J Biol Chem 274 (46), 32778-32785 (1999)
   PUBMED   10551838
REFERENCE   9  (bases 1 to 2203)
  AUTHORS   Page,T., Zhao,K.W., Tao,L. and Miller,A.L.
  TITLE     Purification and characterization of human lymphoblast
            N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
  JOURNAL   Glycobiology 6 (6), 619-626 (1996)
   PUBMED   8922957
REFERENCE   10 (bases 1 to 2203)
  AUTHORS   Lee,J.K. and Pierce,M.
  TITLE     Purification and characterization of human serum
            N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
  JOURNAL   Arch Biochem Biophys 319 (2), 413-425 (1995)
   PUBMED   7786023
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA879815.1, AK025570.1 and
            AC026458.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016256.3.
            
            Summary: Hydrolases are transported to lysosomes after binding to
            mannose 6-phosphate receptors in the trans-Golgi network. This gene
            encodes the enzyme that catalyzes the second step in the formation
            of the mannose 6-phosphate recognition marker on lysosomal
            hydrolases. Commonly known as 'uncovering enzyme' or UCE, this
            enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from
            GlcNAc-alpha-P-mannose moieties and thereby produces the
            recognition marker. The encoded preproprotein is proteolytically
            processed by furin to generate the mature enzyme, a homotetramer of
            two disulfide-linked homodimers. Mutations in this gene are
            associated with developmental stuttering in human patients.
            [provided by RefSeq, Oct 2015].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK127952.1, AK314320.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312251.8/ ENSP00000310998.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                DA879815.1         7-68
            63-1414             AK025570.1         68-1419
            1415-2203           AC026458.8         13251-14039         c
FEATURES             Location/Qualifiers
     source          1..2203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2203
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /note="N-acetylglucosamine-1-phosphodiester
                     alpha-N-acetylglucosaminidase"
                     /db_xref="GeneID:51172"
                     /db_xref="HGNC:HGNC:17378"
                     /db_xref="MIM:607985"
     exon            1..107
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1569
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /EC_number="3.1.4.45"
                     /note="phosphodiester alpha-GlcNAcase;
                     alpha-N-acetylglucosaminyl phosphodiesterase; lysosomal
                     alpha-N-acetylglucosaminidase; mannose
                     6-phosphate-uncovering enzyme"
                     /codon_start=1
                     /product="N-acetylglucosamine-1-phosphodiester
                     alpha-N-acetylglucosaminidase precursor"
                     /protein_id="NP_057340.2"
                     /db_xref="CCDS:CCDS10527.1"
                     /db_xref="GeneID:51172"
                     /db_xref="HGNC:HGNC:17378"
                     /db_xref="MIM:607985"
                     /translation="MATSTGRWLLLRLALFGFLWEASGGLDSGASRDDDLLLPYPRAR
                     ARLPRDCTRVRAGNREHESWPPPPATPGAGGLAVRTFVSHFRDRAVAGHLTRAVEPLR
                     TFSVLEPGGPGGCAARRRATVEETARAADCRVAQNGGFFRMNSGECLGNVVSDERRVS
                     SSGGLQNAQFGIRRDGTLVTGYLSEEEVLDTENPFVQLLSGVVWLIRNGSIYINESQA
                     TECDETQETGSFSKFVNVISARTAIGHDRKGQLVLFHADGQTEQRGINLWEMAEFLLK
                     QDVVNAINLDGGGSATFVLNGTLASYPSDHCQDNMWRCPRQVSTVVCVHEPRCQPPDC
                     HGHGTCVDGHCQCTGHFWRGPGCDELDCGPSNCSQHGLCTETGCRCDAGWTGSNCSEE
                     CPLGWHGPGCQRPCKCEHHCPCDPKTGNCSVSRVKQCLQPPEATLRAGELSFFTRTAW
                     LALTLALAFLLLISTAANLSLLLSRAERNRRLHGDYAYHPLQEMNGEPLAAEKEQPGG
                     AHNPFKD"
     exon            108..563
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     exon            564..703
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     exon            704..812
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     exon            813..941
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1147
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1195
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1297
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1361
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..2203
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2167..2172
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /note="hexamer: AATAAA"
     polyA_site      2176
                     /gene="NAGPA"
                     /gene_synonym="APAA; UCE"
                     /note="major polyA site"
ORIGIN      
        1 gacccgaggc cccggtccaa tatggcgacc tccacgggtc gctggcttct cctccggctt
       61 gcactattcg gcttcctctg ggaagcgtcc ggcggcctcg actcgggggc ctcccgcgac
      121 gacgacttgc tactgcccta tccacgcgcg cgcgcgcgcc tcccccggga ctgcacacgg
      181 gtgcgcgccg gcaaccgcga gcacgagagt tggcctccgc ctcccgcgac tcccggcgcc
      241 ggcggtctgg ccgtgcgcac cttcgtgtcg cacttcaggg accgcgcggt ggccggccac
      301 ctgacgcggg ccgttgagcc cctgcgcacc ttctcggtgc tggagcccgg tggacccggc
      361 ggctgcgcgg cgagacgacg cgccaccgtg gaggagacgg cgcgggcggc cgactgccgt
      421 gtcgcccaga acggcggctt cttccgcatg aactcgggcg agtgcctggg gaacgtggtg
      481 agcgacgagc ggcgggtgag cagctccggg gggctgcaga acgcgcagtt cgggatccgc
      541 cgcgacggga ccctggtcac cgggtacctg tctgaggagg aggtgctgga cactgagaac
      601 ccatttgtgc agctgctgag tggggtcgtg tggctgattc gtaatggaag catctacatc
      661 aacgagagcc aagccacaga gtgtgacgag acacaggaga caggttcctt tagcaaattt
      721 gtgaatgtga tatcagccag gacggccatt ggccacgacc ggaaagggca gctggtgctc
      781 tttcatgcag acggccaaac ggagcagcgt ggcatcaacc tgtgggaaat ggcggagttc
      841 ctgctgaaac aggacgtggt caacgccatc aacctggatg ggggtggctc tgccaccttt
      901 gtgctcaacg ggaccttggc cagttacccg tcagatcact gccaggacaa catgtggcgc
      961 tgtccccgcc aagtgtccac cgtggtgtgt gtgcacgaac cccgctgcca gccgcctgac
     1021 tgccacggcc acgggacctg cgtggacggg cactgccaat gcaccgggca cttctggcgg
     1081 ggtcccggct gtgatgagct ggactgtggc ccctctaact gcagccagca cggactgtgc
     1141 acggagaccg gctgccgctg tgatgccgga tggaccgggt ccaactgcag tgaagagtgt
     1201 ccccttggct ggcatgggcc gggctgccag aggccttgta agtgtgagca ccattgtccc
     1261 tgtgacccca agactggcaa ctgcagcgtc tccagagtaa agcagtgtct ccagccacct
     1321 gaagccaccc tgagggcggg agaactctcc tttttcacca ggaccgcctg gctagccctc
     1381 accctggcgc tggccttcct cctgctgatc agcactgcag caaacctgtc cttgctcctg
     1441 tccagagcag agaggaaccg gcgcctgcat ggggactatg cataccaccc gctgcaggag
     1501 atgaacgggg agcctctggc cgcagagaag gagcagccag ggggcgccca caaccccttc
     1561 aaggactgaa gcctcaagct gcccggggtg gcacgtcgcg aaagcttgtt tccccacggt
     1621 ctggcttctg caggggaaat ttcaaggcca ctggcgtgga ccatctgggt gtcctcagcc
     1681 cctgtggggc agccaagttc ctgatagcac ttgtgcctca gcccctcacc tggccacctg
     1741 ccagggcacc tgcaacccta gcaataccat gctcgctgga gaggctcagc tgcctgcttc
     1801 tggcctgcct gtgtctgctg ccgagaagcc cgtgcccccg ggagggctgc cgcactgcca
     1861 aagagtctcc ctcctcctgg ggaaggggct gccaacgaac cagactcagt gaccacgtca
     1921 tgacagaaca gcacatcctg gccagcaccc ctggctggag tgggttaaag ggacgagtct
     1981 gccttcctgg ctgtgacacg ggaccccttt tctacagacc tcatcactgg atttgccaac
     2041 tagaattcga tttcctgtca taggaagctc cttggaagaa gggatggggg gatgagatca
     2101 tgtttacaga cctgttttgt catcctgctg ccaagaagtt ttttaatcac ttgaataaat
     2161 tgatataata aaaggagcca ccaggtggtg tgtggattct gaa
//
