LOCUS       NM_000262               3696 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens alpha-N-acetylgalactosaminidase (NAGA), transcript
            variant 1, mRNA.
ACCESSION   NM_000262
VERSION     NM_000262.3
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 3696)
  AUTHORS   Yilmaz,S. and Oner,P.
  TITLE     Could low alpha-N-acetylgalactosaminidase plasma concentration
            cause schizophrenia?
  JOURNAL   World J Biol Psychiatry 24 (1), 70-77 (2023)
   PUBMED   35521802
  REMARK    GeneRIF: Could low alpha-N-acetylgalactosaminidase plasma
            concentration cause schizophrenia?
REFERENCE   2  (bases 1 to 3696)
  AUTHORS   Jafari,M., Rahimi,N., Jami,M.S., Hashemzadeh Chaleshtori,M.,
            Elahian,F. and Mirzaei,S.A.
  TITLE     Silencing of alpha-N-acetylgalactosaminidase in the gastric cancer
            cells amplified cell death and attenuated migration, while the
            multidrug resistance remained unchanged
  JOURNAL   Cell Biol Int 46 (2), 255-264 (2022)
   PUBMED   34816536
  REMARK    GeneRIF: Silencing of alpha-N-acetylgalactosaminidase in the
            gastric cancer cells amplified cell death and attenuated migration,
            while the multidrug resistance remained unchanged.
REFERENCE   3  (bases 1 to 3696)
  AUTHORS   Li,Y., Ma,C., Li,W., Yang,Y., Li,X., Liu,J., Wang,J., Li,S.,
            Liu,Y., Li,K., Li,J., Huang,D., Chen,R., Lv,L., Li,M. and Luo,X.J.
  TITLE     A missense variant in NDUFA6 confers schizophrenia risk by
            affecting YY1 binding and NAGA expression
  JOURNAL   Mol Psychiatry 26 (11), 6896-6911 (2021)
   PUBMED   33931730
  REMARK    GeneRIF: A missense variant in NDUFA6 confers schizophrenia risk by
            affecting YY1 binding and NAGA expression.
REFERENCE   4  (bases 1 to 3696)
  AUTHORS   Mohamed,F.E., Al Sorkhy,M., Ghattas,M.A., Al-Zaabi,N.,
            Al-Shamsi,A., Almansoori,T.M., Al-Gazali,L., Al-Dirbashi,O.Y.,
            Al-Jasmi,F. and Ali,B.R.
  TITLE     A Novel Homozygous Missense Variant in the NAGA Gene with Extreme
            Intrafamilial Phenotypic Heterogeneity
  JOURNAL   J Mol Neurosci 70 (1), 45-55 (2020)
   PUBMED   31468281
  REMARK    GeneRIF: A Novel Homozygous Missense Variant in the NAGA Gene with
            Extreme Intrafamilial Phenotypic Heterogeneity.
REFERENCE   5  (bases 1 to 3696)
  AUTHORS   Meshach Paul,D. and Rajasekaran,R.
  TITLE     Exploration of Structural and Functional Variations Owing to Point
            Mutations in alpha-NAGA
  JOURNAL   Interdiscip Sci 10 (1), 81-92 (2018)
   PUBMED   27138754
REFERENCE   6  (bases 1 to 3696)
  AUTHORS   Wang,A.M. and Desnick,R.J.
  TITLE     Structural organization and complete sequence of the human
            alpha-N-acetylgalactosaminidase gene: homology with the
            alpha-galactosidase A gene provides evidence for evolution from a
            common ancestral gene
  JOURNAL   Genomics 10 (1), 133-142 (1991)
   PUBMED   1646157
REFERENCE   7  (bases 1 to 3696)
  AUTHORS   Wang,A.M., Bishop,D.F. and Desnick,R.J.
  TITLE     Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide
            sequence, and expression of a full-length cDNA. Homology with human
            alpha-galactosidase A suggests evolution from a common ancestral
            gene
  JOURNAL   J Biol Chem 265 (35), 21859-21866 (1990)
   PUBMED   2174888
REFERENCE   8  (bases 1 to 3696)
  AUTHORS   Warner,T.G., Louie,A. and Potier,M.
  TITLE     Photolabeling of the alpha-neuraminidase/beta-galactosidase complex
            from human placenta with a photoreactive neuraminidase inhibitor
  JOURNAL   Biochem Biophys Res Commun 173 (1), 13-19 (1990)
   PUBMED   2256909
REFERENCE   9  (bases 1 to 3696)
  AUTHORS   Wang,A.M., Schindler,D. and Desnick,R.
  TITLE     Schindler disease: the molecular lesion in the
            alpha-N-acetylgalactosaminidase gene that causes an infantile
            neuroaxonal dystrophy
  JOURNAL   J Clin Invest 86 (5), 1752-1756 (1990)
   PUBMED   2243144
REFERENCE   10 (bases 1 to 3696)
  AUTHORS   Cantz,M. and Ulrich-Bott,B.
  TITLE     Disorders of glycoprotein degradation
  JOURNAL   J Inherit Metab Dis 13 (4), 523-537 (1990)
   PUBMED   2122119
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB988165.1, M38083.1, Z99716.4
            and BE734247.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000262.2.
            
            Summary: NAGA encodes the lysosomal enzyme
            alpha-N-acetylgalactosaminidase, which cleaves
            alpha-N-acetylgalactosaminyl moieties from glycoconjugates.
            Mutations in NAGA have been identified as the cause of  Schindler
            disease types I and II (type II also known as Kanzaki disease).
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript variant. Variants 1-3 encode the same protein.
            
            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 :: M62783.1, M38083.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396398.8/ ENSP00000379680.3
            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
            1-443               CB988165.1         61-503
            444-2264            M38083.1           1-1821
            2265-3609           Z99716.4           201661-203005       c
            3610-3696           BE734247.1         114-200
FEATURES             Location/Qualifiers
     source          1..3696
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..3696
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="alpha-N-acetylgalactosaminidase"
                     /db_xref="GeneID:4668"
                     /db_xref="HGNC:HGNC:7631"
                     /db_xref="MIM:104170"
     exon            1..531
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="alignment:Splign:2.1.0"
     CDS             516..1751
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /EC_number="3.2.1.49"
                     /note="Acetylgalactosaminidase, alpha-N-
                     (alpha-galactosidase B); N-acetylgalactosaminidase,
                     alpha-"
                     /codon_start=1
                     /product="alpha-N-acetylgalactosaminidase precursor"
                     /protein_id="NP_000253.1"
                     /db_xref="CCDS:CCDS14030.1"
                     /db_xref="GeneID:4668"
                     /db_xref="HGNC:HGNC:7631"
                     /db_xref="MIM:104170"
                     /translation="MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDE
                     DPKNCISEQLFMEMADRMAQDGWRDMGYTYLNIDDCWIGGRDASGRLMPDPKRFPHGI
                     PFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFS
                     TPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDI
                     QDSWWSVLSILNWFVEHQDILQPVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVL
                     AAPLLMSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNK
                     ASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINP
                     SGVVMWYLYPIKNLEMSQQ"
     exon            532..667
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="alignment:Splign:2.1.0"
     exon            668..839
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="alignment:Splign:2.1.0"
     exon            840..1017
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1112
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1274
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1472
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1616
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..3696
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2245..2250
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="hexamer: AATAAA"
     polyA_site      2266
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="major polyA site"
     regulatory      3623..3628
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
                     /note="hexamer: AATAAA"
     polyA_site      3658
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
     polyA_site      3672
                     /gene="NAGA"
                     /gene_synonym="D22S674; GALB"
ORIGIN      
        1 atcaggttac cggattcgag tcagaagcgg cggcaggtct gaacgcttcg gtaggataag
       61 tgcggtggga gggggctctg cggttttggg gagcccaggg cgggaacccg gacccggctg
      121 gaagtccgga gcctggccgc agccccgccc ctccgctctt tcttggtgac cttaagccag
      181 tggctgcctt tttctgagcc cgggcggggc cgaaggcggc ccgtaggccc tcgggactcc
      241 cagcactgca gagggtgtga ggtctgacat ccaagacacg ttgtttcgta tttctgaagg
      301 aagaactgaa gctccgggaa gtgatggctg gggatggggc gggcaacttg gggaccgagt
      361 gtacgatcca cgcctaaggt tgagggcggc cgagctagcc aggcagccgt gaccccagtg
      421 cttttcagac gtttcttagc ttccagagcc caacacatac agctgataca cgcagaccag
      481 atctggtcag gtcctcggaa gctgagtcca gagcgatgct gctgaagaca gtgctcttgc
      541 tgggacatgt ggcccaggtg ctgatgctgg acaatgggct cctgcagaca ccacccatgg
      601 gctggctggc ctgggaacgc ttccgctgca acattaactg tgatgaggac ccaaagaact
      661 gcataagtga acagctcttc atggagatgg ctgaccggat ggcacaggat ggatggcggg
      721 acatgggcta cacatacctc aacattgatg actgctggat cggtggtcgc gatgccagtg
      781 gccgcctgat gccggatccc aagcgcttcc ctcatggcat tcctttcctg gctgactacg
      841 ttcactccct gggcctgaag ttgggtatct acgcggacat gggcaacttc acctgcatgg
      901 gttacccagg caccacactg gacaaggtgg tccaggatgc tcagaccttc gccgagtgga
      961 aggtagacat gctcaagctg gatggctgct tctccacccc cgaggagcgg gcccaggggt
     1021 accccaagat ggctgctgcc ctgaatgcca caggccgccc catcgccttc tcctgcagct
     1081 ggccagccta tgaaggcggc ctccccccaa gggtgaacta cagtctgctg gcggacatct
     1141 gcaacctctg gcgtaactat gatgacatcc aggactcctg gtggagcgtg ctctccatcc
     1201 tgaattggtt cgtggagcac caggacatac tgcagccagt ggccggccct gggcactgga
     1261 atgaccctga catgctgctc attgggaact ttggtctcag cttagagcaa tcccgggccc
     1321 agatggccct gtggacggtg ctggcagccc ccctcttgat gtccacagac ctgcgtacca
     1381 tctccgccca gaacatggac attctgcaga atccactcat gatcaaaatc aaccaggatc
     1441 ccttaggcat ccagggacgc aggattcaca aggaaaaatc tctcatcgaa gtgtacatgc
     1501 ggcctctgtc caacaaggct agcgccttag tcttcttcag ctgcaggacc gatatgcctt
     1561 atcgctacca ctcctccctt ggccagctga acttcaccgg gtctgtgata tatgaggccc
     1621 aggacgtcta ctcaggtgac atcatcagtg gcctccgaga tgaaaccaac ttcacagtga
     1681 tcatcaaccc ttcaggggta gtgatgtggt acctgtatcc catcaagaac ctggagatgt
     1741 cccagcagtg aggagctggg acatgtgaca ggctgtggtg gcaccactga gcctagacca
     1801 tggagccttg gcatgcccag ggcaagtggg gaggttctct gctccccagg cctgctcggt
     1861 gactgacccc atcataccca aagtgcaatc tcacggccag gttctatgcc ctgtccaagc
     1921 gtaaaccctc ttggaaactt cttttggggc aattttcctg tggccttcct ggcctctact
     1981 tccatgtgcg cagccccaca gacgttgctg agcaactcgc cagcctcctg agctccatgc
     2041 ccatcaggac tctagcctct gaccttgctg ttgactctga aatcaggatt tggaagtttt
     2101 cgaattagga gtagagagat ctgacctctt gccaggaatg cccatggatc atgtgattgg
     2161 cttttctacc catagagggc cttgcagcct gataccacct gggagtgagg gtcacaaagg
     2221 agaccttggc tccctcaggt caccaataaa cctgttcttt aatcaagtag ttgtaatatg
     2281 gacctggggt acctttagtt agggactctg gtggcactac acggggtgct ggattcaaat
     2341 ctcacctcta tggatgatgt ctggcatcgt ctggcccctc cttttccaaa gtgaccagaa
     2401 gattgtactt cctagagatg ccagacttgc ctcacaccca ggagctgccc ctgctgtgcc
     2461 tggtatgctg gcagtggtga tggtgacaac acaatgaggc caagtagcaa tgctcccagg
     2521 tcctgcagct tgtgctctgc ccagcagtgc ccctggccca gcacctcagc ctgctcttct
     2581 ctctggtggc tccaccccaa cccctacttc ttttccttta tttctctccc aacctggctg
     2641 caaaggaggt tcatattccc cagatgtgtc cacaaacctg tccaggagtt gtgtcttaaa
     2701 attgatttcc tgtccctctt cctaaggaca ggggtaacag tcaaagtgaa ggaatgatgg
     2761 gttcttgcct gtcttgcttt ggtccgtatt tcccaagccc tcctctttta gccaaggcta
     2821 cagggcactt gtcttccctg gtggctctcc cctttggaga gagctagtgg cagagcaacc
     2881 tagctaggtc ctccttgggc tttgaatgca ggagcaccca gtgccccagg ccttgcactg
     2941 tgctgcccaa ggagtatttt ctgggtggat ctcccatact cctcagggtt ctgaggtcct
     3001 tgtatttagg gtatggtgta aaaacttaca tatgcacatt ttgttacatc atttaagatg
     3061 attgaagctt tactggttaa gtatagggtc accagagaaa gttcctttcc ccagttgatg
     3121 tcttgaggct gttgagaaac ttaggacaga agcctacctc atcccaggcc tgcccctccg
     3181 tgcatagctc tgcctttggg tcttgttcat agtgctgttc aggcaaaatg gaatagtctc
     3241 aggtgggaac accttctctt gctagctcca ggaaggcttt gtgggaaatg agttgagacc
     3301 atggacttgg gagttggggg ccagagttga gcctggactt gaccaattaa ttcccttacc
     3361 tttcagccca agatagctac atgtctttac ttgctgtata agttttcctt ttgtcctggg
     3421 ggtgcctgat tgatcctatc tcttcaccct tcattctttc aacaaacatg ccatctatct
     3481 cccaggacat ttattccctt ctattcaagg ccagttagga atgcaattat tttttttttt
     3541 cagttaaata cagacttgtt tggacgcaag gtaccctttc tctttttaaa aactttttat
     3601 catgaaaact ttcaaataca aaaataaaat ggtagagtga acctccatgt acccagcatc
     3661 cagctccagt aaccatcaac gtgtaccatt atttca
//
