LOCUS       NM_018297               2534 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.
ACCESSION   NM_018297
VERSION     NM_018297.4
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 2534)
  AUTHORS   Satoh,T., Yagi-Utsumi,M., Ishii,N., Mizushima,T., Yagi,H., Kato,R.,
            Tachida,Y., Tateno,H., Matsuo,I., Kato,K., Suzuki,T. and Yoshida,Y.
  TITLE     Structural basis of sugar recognition by SCFFBS2 ubiquitin ligase
            involved in NGLY1 deficiency
  JOURNAL   FEBS Lett 598 (18), 2259-2268 (2024)
   PUBMED   39171510
  REMARK    GeneRIF: Structural basis of sugar recognition by SCF[FBS2]
            ubiquitin ligase involved in NGLY1 deficiency.
REFERENCE   2  (bases 1 to 2534)
  AUTHORS   Frater,C.H., Ruzhnikov,M.R.Z., Beres,S., Alcorn,D., Shue,A. and
            Levy,R.J.
  TITLE     Ocular features of NGLY1 deficiency from a prospective longitudinal
            cohort
  JOURNAL   J AAPOS 28 (3), 103925 (2024)
   PUBMED   38697387
  REMARK    GeneRIF: Ocular features of NGLY1 deficiency from a prospective
            longitudinal cohort.
REFERENCE   3  (bases 1 to 2534)
  AUTHORS   Manole,A., Wong,T., Rhee,A., Novak,S., Chin,S.M., Tsimring,K.,
            Paucar,A., Williams,A., Newmeyer,T.F., Schafer,S.T., Rosh,I.,
            Kaushik,S., Hoffman,R., Chen,S., Wang,G., Snyder,M., Cuervo,A.M.,
            Andrade,L., Manor,U., Lee,K., Jones,J.R., Stern,S., Marchetto,M.C.
            and Gage,F.H.
  TITLE     NGLY1 mutations cause protein aggregation in human neurons
  JOURNAL   Cell Rep 42 (12), 113466 (2023)
   PUBMED   38039131
  REMARK    GeneRIF: NGLY1 mutations cause protein aggregation in human
            neurons.
REFERENCE   4  (bases 1 to 2534)
  AUTHORS   Stanclift,C.R., Dwight,S.S., Lee,K., Eijkenboom,Q.L., Wilsey,M.,
            Wilsey,K., Kobayashi,E.S., Tong,S. and Bainbridge,M.N.
  TITLE     NGLY1 deficiency: estimated incidence, clinical features, and
            genotypic spectrum from the NGLY1 Registry
  JOURNAL   Orphanet J Rare Dis 17 (1), 440 (2022)
   PUBMED   36528660
  REMARK    GeneRIF: NGLY1 deficiency: estimated incidence, clinical features,
            and genotypic spectrum from the NGLY1 Registry.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2534)
  AUTHORS   Hetz,R., Magaway,C., Everett,J., Li,L., Willard,B.B., Freeze,H.H.
            and He,P.
  TITLE     Comparative proteomics reveals elevated CCN2 in NGLY1-deficient
            cells
  JOURNAL   Biochem Biophys Res Commun 632, 165-172 (2022)
   PUBMED   36209585
  REMARK    GeneRIF: Comparative proteomics reveals elevated CCN2 in
            NGLY1-deficient cells.
REFERENCE   6  (bases 1 to 2534)
  AUTHORS   Katiyar,S., Joshi,S. and Lennarz,W.J.
  TITLE     The retrotranslocation protein Derlin-1 binds peptide:N-glycanase
            to the endoplasmic reticulum
  JOURNAL   Mol Biol Cell 16 (10), 4584-4594 (2005)
   PUBMED   16055502
REFERENCE   7  (bases 1 to 2534)
  AUTHORS   Misaghi,S., Pacold,M.E., Blom,D., Ploegh,H.L. and Korbel,G.A.
  TITLE     Using a small molecule inhibitor of peptide: N-glycanase to probe
            its role in glycoprotein turnover
  JOURNAL   Chem Biol 11 (12), 1677-1687 (2004)
   PUBMED   15610852
REFERENCE   8  (bases 1 to 2534)
  AUTHORS   Katiyar,S., Li,G. and Lennarz,W.J.
  TITLE     A complex between peptide:N-glycanase and two proteasome-linked
            proteins suggests a mechanism for the degradation of misfolded
            glycoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (38), 13774-13779 (2004)
   PUBMED   15358861
REFERENCE   9  (bases 1 to 2534)
  AUTHORS   Suzuki,T., Park,H., Hollingsworth,N.M., Sternglanz,R. and
            Lennarz,W.J.
  TITLE     PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase
  JOURNAL   J Cell Biol 149 (5), 1039-1052 (2000)
   PUBMED   10831608
  REMARK    GeneRIF: Describes the function of Yeast PNG1 and identifies
            similar proteins in mouse, human, D. melanogaster, C. elegans, and
            S. pombe.
REFERENCE   10 (bases 1 to 2534)
  AUTHORS   Lam,C., Wolfe,L., Need,A., Shashi,V. and Enns,G.
  TITLE     NGLY1-Related Congenital Disorder of Deglycosylation
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29419975
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092798.3, BC007226.1 and
            BQ017148.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018297.3.
            
            Summary: This gene encodes an enzyme that catalyzes hydrolysis of
            an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to
            N-acetyl-beta-D-glucosaminylamine and a peptide containing an
            aspartate residue. The encoded enzyme may play a role in the
            proteasome-mediated degradation of misfolded glycoproteins.
            Multiple transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, Feb 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: SRR3476690.667160.1,
                                           SRR1660803.2103.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280700.10/ ENSP00000280700.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC092798.3         36897-36908
            13-2207             BC007226.1         1-2195
            2208-2534           BQ017148.1         18-344              c
FEATURES             Location/Qualifiers
     source          1..2534
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.2"
     gene            1..2534
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /note="N-glycanase 1"
                     /db_xref="GeneID:55768"
                     /db_xref="HGNC:HGNC:17646"
                     /db_xref="MIM:610661"
     exon            1..184
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..2018
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /EC_number="3.5.1.52"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine
                     amidase; hPNGase; peptide:N-glycanase"
                     /codon_start=1
                     /product="peptide-N(4)-(N-acetyl-beta-
                     glucosaminyl)asparagine amidase isoform 1"
                     /protein_id="NP_060767.2"
                     /db_xref="CCDS:CCDS33719.1"
                     /db_xref="GeneID:55768"
                     /db_xref="HGNC:HGNC:17646"
                     /db_xref="MIM:610661"
                     /translation="MAAAALGSSSGSASPAVAELCQNTPETFLEASKLLLTYADNILR
                     NPNDEKYRSIRIGNTAFSTRLLPVRGAVECLFEMGFEEGETHLIFPKKASVEQLQKIR
                     DLIAIERSSRLDGSNKSHKVKSSQQPAASTQLPTTPSSNPSGLNQHTRNRQGQSSDPP
                     SASTVAADSAILEVLQSNIQHVLVYENPALQEKALACIPVQELKRKSQEKLSRARKLD
                     KGINISDEDFLLLELLHWFKEEFFHWVNNVLCSKCGGQTRSRDRSLLPSDDELKWGAK
                     EVEDHYCDACQFSNRFPRYNNPEKLLETRCGRCGEWANCFTLCCRAVGFEARYVWDYT
                     DHVWTEVYSPSQQRWLHCDACEDVCDKPLLYEIGWGKKLSYVIAFSKDEVVDVTWRYS
                     CKHEEVIARRTKVKEALLRDTINGLNKQRQLFLSENRRKELLQRIIVELVEFISPKTP
                     KPGELGGRISGSVAWRVARGEMGLQRKETLFIPCENEKISKQLHLCYNIVKDRYVRVS
                     NNNQTISGWENGVWKMESIFRKVETDWHMVYLARKEGSSFAYISWKFECGSVGLKVDS
                     ISIRTSSQTFQTGTVEWKLRSDTAQVELTGDNSLHSYADFSGATEVILEAELSRGDGD
                     VAWQHTQLFRQSLNDHEENCLEIIIKFSDL"
     exon            185..299
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            300..545
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            546..711
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            712..934
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1056
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1202
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            1203..1313
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1478
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..1664
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            1665..1842
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     exon            1843..2534
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2184..2189
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /note="hexamer: AATAAA"
     regulatory      2197..2202
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /note="hexamer: ATTAAA"
     polyA_site      2203
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /note="major polyA site"
     polyA_site      2227
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
     regulatory      2511..2516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
                     /note="hexamer: AATAAA"
     polyA_site      2534
                     /gene="NGLY1"
                     /gene_synonym="CDDG; CDG1V; PNG-1; PNG1; PNGase"
ORIGIN      
        1 agtgtgggac gcggagagcg aggggcggcg gcggcgcccg ctggcgctca agcatggcgg
       61 cggcggcatt gggcagctcc tcaggctcgg cgtccccggc cgtggctgag ctctgccaga
      121 acaccccgga gacctttttg gaggcctcca agctgctgct cacctatgct gacaacatcc
      181 tcagaaaccc taatgatgaa aaatatagat ccatccggat tggaaacaca gccttttcta
      241 ctagactctt gcctgtcaga ggagctgttg aatgtttatt tgaaatgggc tttgaagagg
      301 gagaaacaca tctcatcttt cctaaaaaag cttcagtgga gcagctgcaa aaaattcgtg
      361 acctgattgc catagagaga agtagcagac tggatggctc aaataagagc cacaaagtaa
      421 agtcatctca gcaacctgca gccagtaccc agcttcctac aacaccatct tcaaatccca
      481 gtgggttaaa ccagcacaca aggaaccgtc aagggcagtc atcagatcca ccatctgctt
      541 caacggttgc tgctgactca gccattctag aagttcttca gtccaacatt cagcatgtgc
      601 tggtctatga aaatcctgct cttcaggaga aagcgttggc ttgtattccg gtccaagaac
      661 taaaaaggaa atcacaagaa aagttatcga gagctagaaa attggataaa ggtatcaata
      721 taagtgatga ggattttctt ttgctggagc ttttgcactg gtttaaggaa gaattttttc
      781 actgggtgaa taacgttttg tgcagcaaat gtggtggaca gactaggtct agagatagat
      841 cattactgcc cagtgatgat gagctgaagt ggggtgcaaa ggaagtggaa gatcattact
      901 gtgatgcctg ccagttcagc aatcgattcc caagatataa taaccctgag aaacttttgg
      961 aaacaagatg tggacggtgt ggcgagtggg ccaattgttt tacactgtgc tgccgagctg
     1021 tagggtttga agctcgctat gtttgggatt acacagacca tgtctggaca gaagtctatt
     1081 ctccttctca gcagcggtgg ctgcactgtg atgcatgtga agatgtctgt gacaagccac
     1141 tcctttatga aataggatgg ggcaagaagc tttcctatgt catagcattt tcaaaagatg
     1201 aggtagttga tgtcacttgg cgatattcct gcaaacatga agaggtgatt gccagaagaa
     1261 ctaaggttaa agaagcatta cttcgagaca ctattaatgg gcttaataag cagaggcaac
     1321 tgtttttgtc agaaaacaga aggaaagaac ttctccagag gataattgtg gagcttgttg
     1381 aatttatatc tcccaaaacc cctaaacctg gagaacttgg gggaagaata tctgggtcag
     1441 tggcttggag agtagcccga ggtgaaatgg gtctacagag aaaagaaacc ttgtttattc
     1501 cctgtgaaaa tgagaagatt tctaaacagc tccacctttg ttacaatatt gtgaaagatc
     1561 gttatgttcg agtttcaaat aacaatcaaa ccatttctgg atgggagaat ggcgtgtgga
     1621 aaatggaatc tatattcaga aaagttgaaa cagactggca catggtatat ttggcccgaa
     1681 aggaaggatc atcttttgct tatatttcct ggaagtttga gtgtgggtca gttggcctaa
     1741 aagtagatag catttctatt agaacaagta gtcaaacttt tcagactgga acagtagaat
     1801 ggaaattgcg atctgataca gcacaagtag aactgacagg cgataacagt cttcactcct
     1861 atgctgattt ttctggtgcc actgaagtta ttttggaagc agaattaagc agaggagatg
     1921 gtgatgtcgc ttggcaacac acccagctgt ttagacaaag cttaaatgac catgaagaaa
     1981 attgtttgga gataattata aaattcagtg acctttgaga acctgaacat tatagaaaag
     2041 ctggcaataa tcaaggactt actgaagtag tctgttggtt cagtgcatgc ttagttggca
     2101 gttaccaccc tgtgctagca tatttctttt gctagctatc catcatgtaa ccctcatgaa
     2161 aattatcttt atacgtggac tataataaaa tattgaatta aaacctttct tccatatgtg
     2221 actataattt ggagtaaagt cttgttgact caatatggga ttttaatcta aaactgtaag
     2281 tatggtttta aaagttaaat aatgatattc atgattaaat gctattcatg attatgataa
     2341 aatcttgggc ttatgatagt aatttgacat tttctgatca gccattcatt tcttcagaag
     2401 tggttaaatt agagtctcct aatattttta attaatgtga aagtacagta gctcataaat
     2461 tatataatgc atgaaaattt atatgattat aaatattcag gcatttaaga aataaaatga
     2521 agtattttgc ctta
//
