LOCUS       NM_001042573            4603 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), transcript
            variant 4, mRNA.
ACCESSION   NM_001042573 XM_001134440 XM_001134460
VERSION     NM_001042573.3
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 4603)
  AUTHORS   Strack,C., Bauer,S., Hubauer,U., Ucer,E., Birner,C., Luchner,A.,
            Maier,L. and Jungbauer,C.
  TITLE     N-acetyl-ss-D-glucosaminidase is predictive of mortality in chronic
            heart failure: a 10-year follow-up
  JOURNAL   Biomark Med 15 (13), 1143-1153 (2021)
   PUBMED   34397265
  REMARK    GeneRIF: N-acetyl-ss-D-glucosaminidase is predictive of mortality
            in chronic heart failure: a 10-year follow-up.
REFERENCE   2  (bases 1 to 4603)
  AUTHORS   Bhat,A., Irizar,H., Thygesen,J.H., Kuchenbaecker,K., Pain,O.,
            Adams,R.A., Zartaloudi,E., Harju-Seppanen,J., Austin-Zimmerman,I.,
            Wang,B., Muir,R., Summerfelt,A., Du,X.M., Bruce,H., O'Donnell,P.,
            Srivastava,D.P., Friston,K., Hong,L.E., Hall,M.H. and Bramon,E.
  TITLE     Transcriptome-wide association study reveals two genes that
            influence mismatch negativity
  JOURNAL   Cell Rep 34 (11), 108868 (2021)
   PUBMED   33730571
  REMARK    GeneRIF: Transcriptome-wide association study reveals two genes
            that influence mismatch negativity.
REFERENCE   3  (bases 1 to 4603)
  AUTHORS   Fairbanks,A.J.
  TITLE     The ENGases: versatile biocatalysts for the production of
            homogeneous N-linked glycopeptides and glycoproteins
  JOURNAL   Chem Soc Rev 46 (16), 5128-5146 (2017)
   PUBMED   28681051
  REMARK    Review article
REFERENCE   4  (bases 1 to 4603)
  AUTHORS   Bi,Y., Might,M., Vankayalapati,H. and Kuberan,B.
  TITLE     Repurposing of Proton Pump Inhibitors as first identified small
            molecule inhibitors of endo-beta-N-acetylglucosaminidase (ENGase)
            for the treatment of NGLY1 deficiency, a rare genetic disease
  JOURNAL   Bioorg Med Chem Lett 27 (13), 2962-2966 (2017)
   PUBMED   28512024
REFERENCE   5  (bases 1 to 4603)
  AUTHORS   Xiao,F., Zheng,X., Cui,M., Shi,G., Chen,X., Li,R., Song,Z.,
            Rudolph,K.L., Chen,B. and Ju,Z.
  TITLE     Telomere dysfunction-related serological markers are associated
            with type 2 diabetes
  JOURNAL   Diabetes Care 34 (10), 2273-2278 (2011)
   PUBMED   21873561
  REMARK    GeneRIF: Serological N-acetyl-glucosaminidase, telomere length, and
            the UCP2-886G>A variant are independent risk factors for type 2
            diabetes.
REFERENCE   6  (bases 1 to 4603)
  AUTHORS   Wang,L.X.
  TITLE     The Amazing Transglycosylation Activity of
            Endo-beta-N-acetylglucosaminidases
  JOURNAL   Trends Glycosci Glycotechnol 23 (129), 33-52 (2011)
   PUBMED   25309039
REFERENCE   7  (bases 1 to 4603)
  AUTHORS   Butkinaree,C., Cheung,W.D., Park,S., Park,K., Barber,M. and
            Hart,G.W.
  TITLE     Characterization of beta-N-acetylglucosaminidase cleavage by
            caspase-3 during apoptosis
  JOURNAL   J Biol Chem 283 (35), 23557-23566 (2008)
   PUBMED   18586680
  REMARK    GeneRIF: identification of O-GlcNAcase as a caspase-3 substrate
            with a novel caspase-3 cleavage site and provide insight about
            O-GlcNAcase regulation during apoptosis.
REFERENCE   8  (bases 1 to 4603)
  AUTHORS   Ortutay,Z., Polgar,A., Gomor,B., Geher,P., Lakatos,T., Glant,T.T.,
            Gay,R.E., Gay,S., Pallinger,E., Farkas,C., Farkas,E.,
            Tothfalusi,L., Kocsis,K., Falus,A. and Buzas,E.I.
  TITLE     Synovial fluid exoglycosidases are predictors of rheumatoid
            arthritis and are effective in cartilage glycosaminoglycan
            depletion
  JOURNAL   Arthritis Rheum 48 (8), 2163-2172 (2003)
   PUBMED   12905469
  REMARK    GeneRIF: endo-beta-n-acetylglucosaminidase present in the synovial
            fluid of rheumatoid arthritis patients, may contribute to the
            depletion of glycosaminoglycans from cartilage allowing the
            invasion of synovial cells
REFERENCE   9  (bases 1 to 4603)
  AUTHORS   Suzuki,T., Yano,K., Sugimoto,S., Kitajima,K., Lennarz,W.J.,
            Inoue,S., Inoue,Y. and Emori,Y.
  TITLE     Endo-beta-N-acetylglucosaminidase, an enzyme involved in processing
            of free oligosaccharides in the cytosol
  JOURNAL   Proc Natl Acad Sci U S A 99 (15), 9691-9696 (2002)
   PUBMED   12114544
  REMARK    GeneRIF: involved in processing of free oligosaccharides in the
            cytosol; identification of the gene encoding human cytosolic ENGase
REFERENCE   10 (bases 1 to 4603)
  AUTHORS   Miller,D.J., Gong,X. and Shur,B.D.
  TITLE     Sperm require beta-N-acetylglucosaminidase to penetrate through the
            egg zona pellucida
  JOURNAL   Development 118 (4), 1279-1289 (1993)
   PUBMED   8269854
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY070811.1, AK025518.1, AF512564.1 and AC073624.28.
            
            On Oct 4, 2019 this sequence version replaced NM_001042573.2.
            
            Summary: This gene encodes a cytosolic enzyme which catalyzes the
            hydrolysis of peptides and proteins with mannose modifications to
            produce free oligosaccharides. [provided by RefSeq, Feb 2012].
            
            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 :: SRR14038191.4062711.1,
                                           SRR14038192.2687129.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000579016.6/ ENSP00000462333.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               HY070811.1         19-131
            114-366             AK025518.1         1-253
            367-2700            AF512564.1         246-2579
            2701-4603           AC073624.28        14613-16515         c
FEATURES             Location/Qualifiers
     source          1..4603
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..4603
                     /gene="ENGASE"
                     /note="endo-beta-N-acetylglucosaminidase"
                     /db_xref="GeneID:64772"
                     /db_xref="HGNC:HGNC:24622"
                     /db_xref="MIM:611898"
     exon            1..267
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..2353
                     /gene="ENGASE"
                     /EC_number="3.2.1.96"
                     /note="isoform 4 is encoded by transcript variant 4;
                     Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase;
                     Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase;
                     cytosolic endo-beta-N-acetylglucosaminidase"
                     /codon_start=1
                     /product="cytosolic endo-beta-N-acetylglucosaminidase
                     isoform 4"
                     /protein_id="NP_001036038.1"
                     /db_xref="CCDS:CCDS42394.1"
                     /db_xref="GeneID:64772"
                     /db_xref="HGNC:HGNC:24622"
                     /db_xref="MIM:611898"
                     /translation="MEAAAVTVTRSATRRRRRQLQGLAAPEAGTQEEQEDQEPRPRRR
                     RPGRSIKDEEEETVFREVVSFSPDPLPVRYYDKDTTKPISFYLSSLEELLAWKPRLED
                     GFNVALEPLACRQPPLSSQRPRTLLCHDMMGGYLDDRFIQGSVVQTPYAFYHWQCIDV
                     FVYFSHHTVTIPPVGWTNTAHRHGVCVLGTFITEWNEGGRLCEAFLAGDERSYQAVAD
                     RLVQITQFFRFDGWLINIENSLSLAAVGNMPPFLRYLTTQLHRQVPGGLVLWYDSVVQ
                     SGQLKWQDELNQHNRVFFDSCDGFFTNYNWREEHLERMLGQAGERRADVYVGVDVFAR
                     GNVVGGRFDTDKSLELIRKHGFSVALFAPGWVYECLEKKDFFQNQDKFWGRLERYLPT
                     HSICSLPFVTSFCLGMGARRVCYGQEEAVGPWYHLSAQEIQPLFGEHRLGGDGRGWVR
                     THCCLEDAWHGGSSLLVRGVIPPEVGNVAVRLFSLQAPVPPKIYLSMVYKLEGPTDVT
                     VALELTTGDAGSCHIGGISVLNAETSSRHSLRPLRVPPTKLARWVGRCGRQLSGGWVQ
                     HCYEVSLRGCLLLDLLVCFSRPPGSREEESFTCRLGEIQVVDAASLLAPLPQVQAVTI
                     SHIRWQPSASEREGPPALLQLSCTLHWSFLLSQVRCFRIHCWGGMSDDSPGRELPRPE
                     MPMFLGLAFATQYRIVDLLVEAAGPGQDRRMEFLVEPVPKEGFRVPQAEWGRAVLLYS
                     APA"
     exon            268..335
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            336..537
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            538..686
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            687..844
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            845..993
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1159
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1263
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1372
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1563
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1564..1712
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1713..1821
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1822..1936
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     exon            1937..4603
                     /gene="ENGASE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2672..2677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENGASE"
                     /note="hexamer: CATAAA"
     polyA_site      2700
                     /gene="ENGASE"
     regulatory      4581..4586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENGASE"
                     /note="hexamer: AATAAA"
     polyA_site      4603
                     /gene="ENGASE"
                     /note="major polyA site"
ORIGIN      
        1 gggagtcagc tcggagtccc gtcccagcgc ggcgtcagcg ctgcgcactt cccattggcc
       61 gagcgcggcg cgggggcggg cccgggcctg cgattgcctc tcggcgtgcg cggacagtgt
      121 catggaggcc gcggcggtga cggtcacccg gtcggctaca cggcggcggc ggcggcagct
      181 gcaggggctg gcggccccgg aggcggggac gcaggaggag caggaggatc aggagccgcg
      241 gccgcggcgg cggcggccgg gaaggagcat caaagatgaa gaagaagaga cagtctttcg
      301 agaggtggtc agtttttccc cggaccccct gccagttaga tattatgaca aggacaccac
      361 caaaccaatc agcttttact tgtcttcgct ggaggagctc ttggcgtgga agccccgctt
      421 ggaggatggc tttaatgtgg ccctggagcc cctggcgtgt cgccagcccc ctctgagcag
      481 ccagaggccc cggactttgt tgtgtcatga catgatgggc gggtacctgg atgacaggtt
      541 cattcagggc tcggtggtgc agactcccta tgctttctac cactggcagt gcatcgacgt
      601 ctttgtgtac ttcagccacc acaccgtcac cattccccca gtgggctgga ccaacactgc
      661 ccacaggcat ggggtctgcg tgctggggac tttcatcacg gagtggaatg aagggggaag
      721 gctctgtgaa gccttcctgg ccggggatga gcgctcgtac caggcagtgg ctgaccggct
      781 ggtccagatc actcagtttt ttcgttttga tggctggctg atcaacatcg agaactcgct
      841 gagtctggcc gctgtgggga acatgcctcc tttcctgcgg tacctcacca cacagctgca
      901 ccggcaggtc ccagggggcc tggtgctctg gtatgacagc gtggtgcaaa gtgggcagct
      961 caaatggcaa gacgaactca accagcacaa cagggtcttc tttgattcct gcgacggctt
     1021 cttcactaac tataactggc gggaggagca cttggagcgg atgctggggc aggctgggga
     1081 gcgccgggct gatgtgtacg tgggcgtgga tgtgtttgct cgagggaacg tggtcggagg
     1141 ccgattcgac acagacaagt cgttggagct gatccgaaag catggcttct ccgtggcttt
     1201 gtttgccccc ggctgggtgt atgagtgtct ggagaagaag gatttcttcc agaaccagga
     1261 caagttctgg ggccgactgg agcgttatct gcccacacat agcatctgct ccttgccttt
     1321 cgtcacgtcc ttctgcctgg gcatgggtgc acggagggtc tgctatggcc aggaagaggc
     1381 ggtagggccc tggtaccacc tgagcgccca ggagatccag cccttgtttg gagaacacag
     1441 gctgggaggg gatggccggg gctgggtgag gacgcactgc tgcctggagg atgcctggca
     1501 cggaggcagc tccctgctcg tccggggtgt gatcccaccg gaggttggaa atgtggctgt
     1561 gaggttattt tccctgcagg ccccagtgcc acccaagatt tacctgtcca tggtgtataa
     1621 gcttgagggg cccacggacg tcacagttgc tttggagctg accacagggg atgccggcag
     1681 ctgccacatc ggtggcatct cagtgttgaa cgcagaaaca agctcaagac acagcctccg
     1741 acccctccgg gtgcccccca ccaagctggc cagatgggtg ggccgctgcg gccggcagct
     1801 gagtgggggc tgggtccagc actgctacga ggtgagcctg cgtgggtgcc tgctgctaga
     1861 cctcctcgtt tgcttctcac ggccgccggg tagtcgggag gaggagagct tcacctgtcg
     1921 gcttggagag atccaggtgg tggacgctgc cagcctgctg gcccctctgc cccaggtgca
     1981 ggccgtcacc atctctcaca tccgctggca gccatccgcc tctgagcggg aggggccccc
     2041 tgctctgctc cagctcagct gcaccctgca ctggtccttc ctcctctcac aagtccgttg
     2101 cttccgaatc cactgctggg gagggatgag tgatgactct ccgggcaggg agctgccgag
     2161 gccagagatg cccatgttcc tggggttggc ttttgccacc cagtaccgga tagtggacct
     2221 gctggtggaa gccgccgggc ccggccagga tcgtcgcatg gaatttctgg tggagcctgt
     2281 ccccaaggaa gggttccggg tacctcaggc cgagtggggc agggcagttc tgctttattc
     2341 agcccctgca tgagcggatg ctaaggccgg gtggtctcct ggcctcgggc tgaggcctct
     2401 tcccggctgt ctgcccctgg cctgcgctgg acctgctaag tgcccacagt ggcagcgagg
     2461 tcccggtccc ggggctgggg tgggagaccc cgggctgagt gctgtggctt tctggtgggg
     2521 ggcgatggaa acaggaaacc aagcagtggg atcgcagcgt tggtcactgc gaggcgagtg
     2581 gcgggctttc tgtttctgcc ttgtccctcc ccacggtacc tggttcccag gtgaaaatga
     2641 aaggagggga gaagttgaga acagaacatt ccataaagga tatttcctaa taggctgcaa
     2701 gatgctgatg ccgagaatga tgattttctt tcctgcagat gaaactatta gaaagggtct
     2761 tagattgtgg caggtaggct ttggagcagg cgccgagaca tttctgagca tgaggacgag
     2821 ctacagcagc tcctggggtg gggctgcctg cgggatggcg ggagaggatg ccctggagaa
     2881 ccgtcctccc agtgtggaag gcccttttcc ctgaggagtg ggcattctgg gccagccggc
     2941 gctggcttcg tgcctccacg tgggccagcc ccagctgctc cgtgtttcct ggcgttggca
     3001 atttactgtg ctgctgagtg tgaggtcatc tccggagcgt tttcagcagc ccctggctct
     3061 gcggcgtctc ttccgggctg tgggcatgca gggaagtggc tctgaggcag tctgcgctgt
     3121 ggccctgcct ctgcccagcg agaggccgtg ggctctggac aagccgccct tcaggctggg
     3181 gtagcaggtc agtccaggca ggaagcagca cctgcccccc gcgccagccc agccccagcc
     3241 tgagtgcagg agctgcagga cccgcggggg cttttccagc tactctgttc cttcacgtcc
     3301 tcccttctca gcctcgtcca agcaccggga agacctccag gctgacccct tgagcagcag
     3361 tcagcacagg tgcgtggggg cgtgagggag gcagggtctt caccacaggc gccttcctct
     3421 gtccttcctg ctctttcttc tctgcccagg ccgctgcagc tgcacagcct ctgctacacc
     3481 tgggctgcct gggaggcttc ctggtgtggt gtctggaccc cacggccttg ggtcatcctg
     3541 tggctggtct ggggtggggt ctgttgtggt ccttccacgg tgtcagtggc ctgaagtccc
     3601 tcgcttttgg ggggggggtc tctcaccccc aggccacata gggccagtgg taggggttcc
     3661 ctctatgtcg ggcagtgctg agggctggga tgctctgtga ccccagctgg agcccacacc
     3721 taagggctgg catccacatc atttcaccct gcagtgaggg aagaggccac caggtggcag
     3781 cacagccaca cccgttccca cgtcagagga gggcaaggct gggtactcag cagccactct
     3841 gagccggggc tccttccagg agctgaaatc cacctgtctc catcttcctt gcctgcctgg
     3901 gtactcatgc caagcagaga ctgggattag gggttctgtg ctcttgccta attaggaaca
     3961 ttctcccatg tctcttgtgt ggtcccagaa ggagaagtga gtttgccaag gatatggggc
     4021 aggaggctcc ctctgctgac cccctgcagc ctggagccag cccggggact gtcctgggtg
     4081 gagggcaggt gaacacaagc tgctgccggg gactgtcctg ggtggacggc aggtgaacac
     4141 aagcggctgc cgcatgtagc cactcactcg actttttttc agctgtgacc attcccggga
     4201 gctctttgag cctttctgtc tcatttggaa ccagggggaa ccaggaaggg gctcctggcc
     4261 tctctgtgtc ctctgcagtg ggggttgtgg ggggcgcagc atccacgcct tgctgccctt
     4321 ctttcatgaa gtctgttttt taagtgctgg ttcccccgaa tattttatgc agaggaggga
     4381 aaatttatag tggcaattat tttctcacag tctggtgagc aggcaattaa ttaggagtaa
     4441 gggggcctag tagagcgtgg cgtgtggcag aatcgcaccg ccccggctcc ccagcccacc
     4501 gccatgcagg gctcgcgtgc gggaaaacta atatgccggc gtttaagcct gtgcccctct
     4561 gctgggtgta actgcgctga aataaatgat ctgacaatgt gaa
//
