KEGG   Homo sapiens (human): 55768
Entry
55768             CDS       T01001                                 

Symbol
NGLY1, CDDG, CDG1V, PNG-1, PNG1, PNGase
Name
(RefSeq) N-glycanase 1
  KO
K01456  peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase [EC:3.5.1.52]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Disease
H00118  Congenital disorders of glycosylation type I
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    55768 (NGLY1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.5  Acting on carbon-nitrogen bonds, other than peptide bonds
   3.5.1  In linear amides
    3.5.1.52  peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase
     55768 (NGLY1)
SSDB
Motif
Pfam: PAW PUB Transglut_core Rad4
Other DBs
NCBI-GeneID: 55768
NCBI-ProteinID: NP_060767
OMIM: 610661
HGNC: 17646
Ensembl: ENSG00000151092
Vega: OTTHUMG00000155600
Pharos: Q96IV0(Tbio)
UniProt: Q96IV0
Structure
PDB: 
2CCQ 2CM0

Position
3p24.2
AA seq 654 aa
MAAAALGSSSGSASPAVAELCQNTPETFLEASKLLLTYADNILRNPNDEKYRSIRIGNTA
FSTRLLPVRGAVECLFEMGFEEGETHLIFPKKASVEQLQKIRDLIAIERSSRLDGSNKSH
KVKSSQQPAASTQLPTTPSSNPSGLNQHTRNRQGQSSDPPSASTVAADSAILEVLQSNIQ
HVLVYENPALQEKALACIPVQELKRKSQEKLSRARKLDKGINISDEDFLLLELLHWFKEE
FFHWVNNVLCSKCGGQTRSRDRSLLPSDDELKWGAKEVEDHYCDACQFSNRFPRYNNPEK
LLETRCGRCGEWANCFTLCCRAVGFEARYVWDYTDHVWTEVYSPSQQRWLHCDACEDVCD
KPLLYEIGWGKKLSYVIAFSKDEVVDVTWRYSCKHEEVIARRTKVKEALLRDTINGLNKQ
RQLFLSENRRKELLQRIIVELVEFISPKTPKPGELGGRISGSVAWRVARGEMGLQRKETL
FIPCENEKISKQLHLCYNIVKDRYVRVSNNNQTISGWENGVWKMESIFRKVETDWHMVYL
ARKEGSSFAYISWKFECGSVGLKVDSISIRTSSQTFQTGTVEWKLRSDTAQVELTGDNSL
HSYADFSGATEVILEAELSRGDGDVAWQHTQLFRQSLNDHEENCLEIIIKFSDL
NT seq 1965 nt   +upstreamnt  +downstreamnt
atggcggcggcggcattgggcagctcctcaggctcggcgtccccggccgtggctgagctc
tgccagaacaccccggagacctttttggaggcctccaagctgctgctcacctatgctgac
aacatcctcagaaaccctaatgatgaaaaatatagatccatccggattggaaacacagcc
ttttctactagactcttgcctgtcagaggagctgttgaatgtttatttgaaatgggcttt
gaagagggagaaacacatctcatctttcctaaaaaagcttcagtggagcagctgcaaaaa
attcgtgacctgattgccatagagagaagtagcagactggatggctcaaataagagccac
aaagtaaagtcatctcagcaacctgcagccagtacccagcttcctacaacaccatcttca
aatcccagtgggttaaaccagcacacaaggaaccgtcaagggcagtcatcagatccacca
tctgcttcaacggttgctgctgactcagccattctagaagttcttcagtccaacattcag
catgtgctggtctatgaaaatcctgctcttcaggagaaagcgttggcttgtattccggtc
caagaactaaaaaggaaatcacaagaaaagttatcgagagctagaaaattggataaaggt
atcaatataagtgatgaggattttcttttgctggagcttttgcactggtttaaggaagaa
ttttttcactgggtgaataacgttttgtgcagcaaatgtggtggacagactaggtctaga
gatagatcattactgcccagtgatgatgagctgaagtggggtgcaaaggaagtggaagat
cattactgtgatgcctgccagttcagcaatcgattcccaagatataataaccctgagaaa
cttttggaaacaagatgtggacggtgtggcgagtgggccaattgttttacactgtgctgc
cgagctgtagggtttgaagctcgctatgtttgggattacacagaccatgtctggacagaa
gtctattctccttctcagcagcggtggctgcactgtgatgcatgtgaagatgtctgtgac
aagccactcctttatgaaataggatggggcaagaagctttcctatgtcatagcattttca
aaagatgaggtagttgatgtcacttggcgatattcctgcaaacatgaagaggtgattgcc
agaagaactaaggttaaagaagcattacttcgagacactattaatgggcttaataagcag
aggcaactgtttttgtcagaaaacagaaggaaagaacttctccagaggataattgtggag
cttgttgaatttatatctcccaaaacccctaaacctggagaacttgggggaagaatatct
gggtcagtggcttggagagtagcccgaggtgaaatgggtctacagagaaaagaaaccttg
tttattccctgtgaaaatgagaagatttctaaacagctccacctttgttacaatattgtg
aaagatcgttatgttcgagtttcaaataacaatcaaaccatttctggatgggagaatggc
gtgtggaaaatggaatctatattcagaaaagttgaaacagactggcacatggtatatttg
gcccgaaaggaaggatcatcttttgcttatatttcctggaagtttgagtgtgggtcagtt
ggcctaaaagtagatagcatttctattagaacaagtagtcaaacttttcagactggaaca
gtagaatggaaattgcgatctgatacagcacaagtagaactgacaggcgataacagtctt
cactcctatgctgatttttctggtgccactgaagttattttggaagcagaattaagcaga
ggagatggtgatgtcgcttggcaacacacccagctgtttagacaaagcttaaatgaccat
gaagaaaattgtttggagataattataaaattcagtgacctttga

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