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NGLY1 (N-glycanase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55768
Gene nameGene Name - the full gene name approved by the HGNC.
N-glycanase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NGLY1
SynonymsGene synonyms aliases
CDDG, CDG1V, PNG-1, PNG1, PNGase
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.2
SummarySummary of gene provided in NCBI Entrez Gene.
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-media
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs146140738 G>A Pathogenic, likely-pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs200561967 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs201337954 T>A,C Pathogenic Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs201791209 C>A,T Pathogenic-likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs528583612 G>A Pathogenic Non coding transcript variant, intron variant, coding sequence variant, genic downstream transcript variant, stop gained
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045306 hsa-miR-186-5p CLASH 23622248
MIRT1184201 hsa-miR-383 CLIP-seq
MIRT1184202 hsa-miR-4266 CLIP-seq
MIRT1184203 hsa-miR-4735-5p CLIP-seq
MIRT1184204 hsa-miR-4772-5p CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000224 Function Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity IBA 21873635
GO:0000224 Function Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity IGI 28826503
GO:0000224 Function Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity TAS
GO:0005515 Function Protein binding IPI 15358861, 22119785, 25416956, 28514442, 31515488, 32296183
GO:0005634 Component Nucleus IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q96IV0
Protein name Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (PNGase) (hPNGase) (EC 3.5.1.52) (N-glycanase 1) (Peptide:N-glycanase)
Protein function Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting
PDB 2CCQ , 2CM0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09409 PUB
25 103
PUB domain
Domain
PF01841 Transglut_core
258 354
Transglutaminase-like superfamily
Family
PF04721 PAW
457 651
PNGase C-terminal domain, mannose-binding module PAW
Domain
Sequence
MAAAALGSSSGSASPAVAELCQNTPETFLEASKLLLTYADNILRNPNDEKYRSIRIGNTA
FSTRLLPVRGAVECLFEMGFEEGETHLIFPKKASVEQLQKIRD
LIAIERSSRLDGSNKSH
KVKSSQQPAASTQLPTTPSSNPSGLNQHTRNRQGQSSDPPSASTVAADSAILEVLQSNIQ
HVLVYENPALQEKALACIPVQELKRKSQEKLSRARKLDKGINISDEDFLLLELLHWFKEE
FFHWVNNVLCSKCGGQTRSRDRSLLPSDDELKWGAKEVEDHYCDACQFSNRFPRYNNPEK
LLETRCGRCGEWANCFTLCCRAVGFEARYVWDYTDHVWTEVYSPSQQRWLHCDA
CEDVCD
KPLLYEIGWGKKLSYVIAFSKDEVVDVTWRYSCKHEEVIARRTKVKEALLRDTINGLNKQ
RQLFLSENRRKELLQRIIVELVEFISPKTPKPGELGGRISGSVAWRVARGEMGLQRKETL
FIPCENEKISKQLHLCYNIVKDRYVRVSNNNQTISGWENGVWKMESIFRKVETDWHMVYL
ARKEGSSFAYISWKFECGSVGLKVDSISIRTSSQTFQTGTVEWKLRSDTAQVELTGDNSL
HSYADFSGATEVILEAELSRGDGDVAWQHTQLFRQSLNDHEENCLEIIIKF
SDL
Sequence length 654
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Protein processing in endoplasmic reticulum   N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cone-rod dystrophy Cone-Rod Dystrophies rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209, rs104894672, rs61748436, rs2123743692, rs61751408, rs61751374, rs61750200, rs62642560, rs61752410, rs121909206, rs387906388, rs61753033, rs61750172, rs61750173, rs267606857, rs606231180, rs606231181, rs137852551, rs863223294, rs61755792, rs61755786, rs62625014, rs781781440, rs137853932, rs1064792853, rs387907136, rs397517974, rs397517994, rs786200944, rs398123044, rs398122960, rs61752435, rs1800728, rs398124354, rs61749679, rs61750184, rs61755781, rs281865373, rs62653029, rs62635009, rs281865297, rs61748558, rs61749409, rs61750202, rs61750065, rs61751398, rs61750146, rs281865377, rs61751388, rs62646861, rs61750158, rs61751403, rs62646872, rs61750575, rs61751407, rs61750645, rs281865516, rs61751266, rs137853907, rs483353055, rs587777469, rs587777470, rs587777471, rs199882533, rs76216585, rs587777693, rs587777694, rs786205151, rs150115958, rs2723341, rs201422368, rs786205664, rs746559651, rs786205665, rs786205661, rs794727197, rs192003551, rs886041039, rs863224913, rs771214648, rs863225090, rs751163782, rs875989778, rs886044750, rs768278935, rs886044735, rs201471607, rs61752398, rs878853400, rs886037880, rs886037881, rs886039559, rs748706582, rs886039882, rs886041900, rs886042153, rs749526785, rs1057516195, rs1057516199, rs543698823, rs199840367, rs752175052, rs1085307121, rs104893793, rs1064797182, rs1131691378, rs778234759, rs1553193813, rs373331232, rs756678484, rs780667159, rs1557110499, rs1553901823, rs201587670, rs1439202144, rs1555635778, rs1429786931, rs1553187160, rs1553188916, rs1555345387, rs61749412, rs951379922, rs1554186472, rs767528365, rs1210104601, rs776289402, rs750740765, rs544616523, rs75459701, rs759940113, rs1557787559, rs782581701, rs771116776, rs1006935198, rs755733328, rs1560141393, rs121918567, rs752263228, rs775957498, rs1030149008, rs530749007, rs141823837, rs1570393848, rs1571250020, rs1570382663, rs78484040, rs766357803, rs1437021651, rs1601982595, rs1597331616, rs748798324, rs759408031, rs747512450, rs373680665, rs1355802816, rs374017889, rs1589307705, rs376500610, rs1598146173, rs1598149154, rs752619497, rs1571257937, rs1572829866, rs1426009756, rs1464167194, rs1588391640, rs1588865728, rs1589306127, rs1420750126, rs1598150539, rs1598150793, rs1601972449, rs782740998, rs767366723, rs1602653110, rs778456901, rs1662213462, rs1662507319, rs751644763, rs1689012192, rs1667508280, rs1719285721, rs1734066547, rs1800111659, rs1827340429, rs1196886096, rs1882924778, rs2046020472, rs2046113301, rs1594280740, rs1590681805, rs1570373408, rs369973540, rs1005271380, rs368213921, rs535922252, rs745741473, rs138370992, rs772656461, rs749738655, rs1968173024, rs746128841, rs1887576038, rs909373397, rs750116711, rs1659840790, rs1768016995, rs1186795749
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression Developmental regression rs1224421127
Epilepsy Gelastic Epilepsy rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532
Unknown
Disease name Disease term dbSNP ID References
Alacrima Alacrima
Alacrimia-choreoathetosis-liver dysfunction syndrome Alacrimia-choreoathetosis-liver dysfunction syndrome
Anhidrosis Anhidrosis
Brachycephaly Brachycephaly

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