LOCUS       NM_000027               2037 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1,
            mRNA.
ACCESSION   NM_000027
VERSION     NM_000027.4
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 2037)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2037)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2037)
  AUTHORS   Saarela,J., Oinonen,C., Jalanko,A., Rouvinen,J. and Peltonen,L.
  TITLE     Autoproteolytic activation of human aspartylglucosaminidase
  JOURNAL   Biochem J 378 (Pt 2), 363-371 (2004)
   PUBMED   14616088
  REMARK    GeneRIF: Molecular mechanism for the autoproteolytic activation of
            aspartylglucosaminidase.
REFERENCE   4  (bases 1 to 2037)
  AUTHORS   Goodspeed,K., Chen,X. and Tchan,M.
  TITLE     Aspartylglucosaminuria
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   38252773
REFERENCE   5  (bases 1 to 2037)
  AUTHORS   Rip,J.W., Coulter-Mackie,M.B., Rupar,C.A. and Gordon,B.A.
  TITLE     Purification and structure of human liver aspartylglucosaminidase
  JOURNAL   Biochem J 288 (Pt 3) (Pt 3), 1005-1010 (1992)
   PUBMED   1281977
REFERENCE   6  (bases 1 to 2037)
  AUTHORS   Ikonen,E. and Peltonen,L.
  TITLE     Mutations causing aspartylglucosaminuria (AGU): a lysosomal
            accumulation disease
  JOURNAL   Hum Mutat 1 (5), 361-365 (1992)
   PUBMED   1301945
  REMARK    Review article
REFERENCE   7  (bases 1 to 2037)
  AUTHORS   Park,H., Fisher,K.J. and Aronson,N.N. Jr.
  TITLE     Genomic structure of human lysosomal glycosylasparaginase
  JOURNAL   FEBS Lett 288 (1-2), 168-172 (1991)
   PUBMED   1840528
REFERENCE   8  (bases 1 to 2037)
  AUTHORS   Fisher,K.J. and Aronson,N.N. Jr.
  TITLE     Characterization of the mutation responsible for
            aspartylglucosaminuria in three Finnish patients. Amino acid
            substitution Cys163----Ser abolishes the activity of lysosomal
            glycosylasparaginase and its conversion into subunits
  JOURNAL   J Biol Chem 266 (18), 12105-12113 (1991)
   PUBMED   1904874
REFERENCE   9  (bases 1 to 2037)
  AUTHORS   Mononen,I., Heisterkamp,N., Kaartinen,V., Williams,J.C., Yates,J.R.
            3rd, Griffin,P.R., Hood,L.E. and Groffen,J.
  TITLE     Aspartylglycosaminuria in the Finnish population: identification of
            two point mutations in the heavy chain of glycoasparaginase
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2941-2945 (1991)
   PUBMED   2011603
REFERENCE   10 (bases 1 to 2037)
  AUTHORS   Fisher,K.J., Tollersrud,O.K. and Aronson,N.N. Jr.
  TITLE     Cloning and sequence analysis of a cDNA for human
            glycosylasparaginase. A single gene encodes the subunits of this
            lysosomal amidase
  JOURNAL   FEBS Lett 269 (2), 440-444 (1990)
   PUBMED   2401370
  REMARK    Erratum:[FEBS Lett 1990 Dec 10;276(1-2):232]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA346002.1, BC012392.1,
            AW467768.1, AC027627.6 and BM968469.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 20, 2018 this sequence version replaced NM_000027.3.
            
            Summary: This gene encodes a member of the N-terminal nucleophile
            (Ntn) hydrolase family of proteins. The encoded preproprotein is
            proteolytically processed to generate alpha and beta chains that
            comprise the mature enzyme. This enzyme is involved in the
            catabolism of N-linked oligosaccharides of glycoproteins. It
            cleaves asparagine from N-acetylglucosamines as one of the final
            steps in the lysosomal breakdown of glycoproteins. Mutations in
            this gene are associated with the lysosomal storage disease
            aspartylglycosaminuria that results in progressive
            neurodegeneration. Alternative splicing results in multiple
            transcript variants, at least one of which encodes an isoform that
            is subject to proteolytic processing. [provided by RefSeq, Nov
            2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR3476690.973824.1,
                                           SRR1803612.248008.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264595.7/ ENSP00000264595.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DA346002.1         67-77
            12-507              BC012392.1         1-496
            508-508             AW467768.1         496-496             c
            509-1134            BC012392.1         498-1123
            1135-1412           AC027627.6         181937-182214       c
            1413-2037           BM968469.1         16-640              c
FEATURES             Location/Qualifiers
     source          1..2037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q34.3"
     gene            1..2037
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="aspartylglucosaminidase"
                     /db_xref="GeneID:175"
                     /db_xref="HGNC:HGNC:318"
                     /db_xref="MIM:613228"
     exon            1..189
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..1103
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /EC_number="3.5.1.26"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1;
                     N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase;
                     glycosylasparaginase;
                     N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase;
                     aspartylglucosylamine deaspartylase"
                     /codon_start=1
                     /product="N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
                     isoform 1 preproprotein"
                     /protein_id="NP_000018.2"
                     /db_xref="CCDS:CCDS3829.1"
                     /db_xref="GeneID:175"
                     /db_xref="HGNC:HGNC:318"
                     /db_xref="MIM:613228"
                     /translation="MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAW
                     RALASGGSALDAVESGCAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAV
                     GDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLA
                     RNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHI
                     AAGTSTNGIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYM
                     RRGEDPTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKLSTFTQFSFMVYNSE
                     KNQPTEEKVDCI"
     exon            190..343
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="alignment:Splign:2.1.0"
     exon            344..456
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="alignment:Splign:2.1.0"
     exon            457..569
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="alignment:Splign:2.1.0"
     exon            570..684
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="alignment:Splign:2.1.0"
     exon            685..760
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="alignment:Splign:2.1.0"
     exon            761..868
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="alignment:Splign:2.1.0"
     exon            869..1002
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..2037
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1226..1231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="hexamer: AATAAA"
     polyA_site      1248
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="major polyA site"
     regulatory      2011..2016
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="hexamer: AATAAA"
     polyA_site      2037
                     /gene="AGA"
                     /gene_synonym="AGU; ASRG; GA"
                     /note="major polyA site"
ORIGIN      
        1 aattgttcgg cgatcgctgg ctgccgggac ttttctcgcg ctggtctctt cggtggtcag
       61 ggatggcgcg gaagtcgaac ttgcctgtgc ttctcgtgcc gtttctgctc tgccaggccc
      121 tagtgcgctg ctccagccct ctgcccctgg tcgtcaacac ttggcccttt aagaatgcaa
      181 ccgaagcagc gtggagggca ttagcatctg gaggctctgc cctggatgca gtggagagcg
      241 gctgtgccat gtgtgagaga gagcagtgtg acggctctgt aggctttgga ggaagtcctg
      301 atgaacttgg agaaaccaca ctagatgcca tgatcatgga tggcactact atggatgtag
      361 gagcagtagg agatctcaga cgaattaaaa atgctattgg tgtggcacgg aaagtactgg
      421 aacatacaac acacacactt ttagtaggag agtcagccac cacatttgct caaagtatgg
      481 ggtttatcaa tgaagactta tctaccactg cttctcaagc tcttcattca gattggcttg
      541 ctcggaattg ccagccaaat tattggagga atgttatacc agatccctca aaatactgcg
      601 gaccctacaa accacctggt atcttaaagc aggatattcc tatccataaa gaaacagaag
      661 atgatcgtgg tcatgacact attggcatgg ttgtaatcca taagacagga catattgctg
      721 ctggtacatc tacaaatggt ataaaattca aaatacatgg ccgtgtagga gactcaccaa
      781 tacctggagc tggagcctat gctgacgata ctgcaggggc agccgcagcc actgggaatg
      841 gtgatatatt gatgcgcttc ctgccaagct accaagctgt agaatacatg agaagaggag
      901 aagatccaac catagcttgc caaaaagtga tttcaagaat ccagaagcat tttccagaat
      961 tctttggggc tgttatatgt gccaatgtga ctggaagtta cggtgctgct tgcaataaac
     1021 tttcaacatt tactcagttt agtttcatgg tttataattc cgaaaaaaat cagccaactg
     1081 aggaaaaagt ggactgcatc taatccatct ttactgtcaa catctgtatt taaagaagaa
     1141 agaaacaaag gctgaaaagg ctgctcactc tcatcatcta gtgttcctca tgtgttctaa
     1201 agtctttttg taaaataaac acaaaaataa atttatgttg aattggcact ttctatatct
     1261 gaaattgtat tatctatttt tatttaacct ttcttatatt atctgaagat gaatatgtat
     1321 gtggctgtat tttgtatata tttaagtttt aagtgacact tggatttctg atcagtgttg
     1381 caaaaaattg ctactttgag atttatttcc acagtgatat attaaaccca aaaggaatca
     1441 tcatatttgg atgcttaaaa tagagtatac aagtttttta gacccaaaga aaaaaacagc
     1501 agagtctcag catgatcagt cctgattgaa tttcattatg tcacagtgat gcatgtctta
     1561 gcactgatta ttggttttac ttaatattcc ctaaaaactt gaggaaggaa gatgatagaa
     1621 catgagatac tctttgtttt gtacatacta gaaaatacag ctatcttctg atgagcaatt
     1681 gtgttgattt tctttgcttt tttcctctta tggagctctc agtgtgtgaa agttctaaag
     1741 ccacaagaat caatgatgtt ttagctgcta atatttagta ttgatcgttt cttttaaaaa
     1801 tgatttgggg aacttgatct gtactgtaat tttactaatt ccttgtgcag aggtgggtat
     1861 ggcaattaga agtcaagaaa tgggttgttt agcttggttt gtttccctaa cttctgatta
     1921 actctctgta tgacaactct acagaagttg tgcgcgtgct ttctcagcag catttttcct
     1981 tcaaaatcat ctttttaatc aacagtcatt aataaatgta catgtacgat attcaaa
//
