UniProtKB - Q96IV0 (NGLY1_HUMAN)
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
NGLY1
Functioni
Miscellaneous
Catalytic activityi
- Hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl)asparagine residue in which the glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. EC:3.5.1.52
Cofactori
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 250 | ZincBy similarity | 1 | |
Metal bindingi | 253 | ZincBy similarity | 1 | |
Metal bindingi | 283 | ZincBy similarity | 1 | |
Metal bindingi | 286 | ZincBy similarity | 1 | |
Active sitei | 309 | NucleophileBy similarity | 1 | |
Active sitei | 336 | By similarity | 1 | |
Active sitei | 353 | By similarity | 1 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
- peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity Source: FlyBase
GO - Biological processi
- glycoprotein catabolic process Source: UniProtKB
- protein deglycosylation Source: FlyBase
- protein folding Source: Reactome
- protein quality control for misfolded or incompletely synthesized proteins Source: GO_Central
Keywordsi
Molecular function | Hydrolase |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q96IV0 |
Reactomei | R-HSA-532668, N-glycan trimming in the ER and Calnexin/Calreticulin cycle |
SIGNORi | Q96IV0 |
Names & Taxonomyi
Protein namesi | Recommended name: Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (EC:3.5.1.52)Short name: PNGase Short name: hPNGase Alternative name(s): N-glycanase 1 Peptide:N-glycanase |
Gene namesi | Name:NGLY1 Synonyms:PNG1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000151092.16 |
HGNCi | HGNC:17646, NGLY1 |
MIMi | 610661, gene |
neXtProti | NX_Q96IV0 |
Pathology & Biotechi
Involvement in diseasei
Congenital disorder of deglycosylation (CDDG)2 Publications
Organism-specific databases
DisGeNETi | 55768 |
GeneReviewsi | NGLY1 |
MalaCardsi | NGLY1 |
MIMi | 615273, phenotype |
OpenTargetsi | ENSG00000151092 |
Orphaneti | 404454, Alacrimia-choreoathetosis-liver dysfunction syndrome |
PharmGKBi | PA38462 |
Miscellaneous databases
Pharosi | Q96IV0, Tbio |
Polymorphism and mutation databases
BioMutai | NGLY1 |
DMDMi | 74732105 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000248971 | 2 – 654 | Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidaseAdd BLAST | 653 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 137 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q96IV0 |
jPOSTi | Q96IV0 |
MassIVEi | Q96IV0 |
MaxQBi | Q96IV0 |
PaxDbi | Q96IV0 |
PeptideAtlasi | Q96IV0 |
PRIDEi | Q96IV0 |
ProteomicsDBi | 76857 [Q96IV0-1] 76858 [Q96IV0-2] 76859 [Q96IV0-3] 76860 [Q96IV0-4] 76861 [Q96IV0-5] |
PTM databases
iPTMneti | Q96IV0 |
PhosphoSitePlusi | Q96IV0 |
Expressioni
Gene expression databases
Bgeei | ENSG00000151092, Expressed in testis and 238 other tissues |
ExpressionAtlasi | Q96IV0, baseline and differential |
Genevisiblei | Q96IV0, HS |
Organism-specific databases
HPAi | ENSG00000151092, Low tissue specificity |
Interactioni
Subunit structurei
Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation composed of NGLY1, SAKS1, AMFR, VCP and RAD23B.
Interacts with the proteasome components RAD23B and PSMC1.
Interacts with directly with VCP.
Interacts with DERL1, bringing it close to the endoplasmic reticulum membrane.
Interacts with SAKS1.
4 PublicationsBinary interactionsi
Hide detailsQ96IV0
Protein-protein interaction databases
BioGRIDi | 120885, 39 interactors |
IntActi | Q96IV0, 23 interactors |
MINTi | Q96IV0 |
STRINGi | 9606.ENSP00000280700 |
Miscellaneous databases
RNActi | Q96IV0, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q96IV0 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96IV0 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 30 – 91 | PUBAdd BLAST | 62 | |
Domaini | 454 – 654 | PAWPROSITE-ProRule annotationAdd BLAST | 201 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0909, Eukaryota |
GeneTreei | ENSGT00390000006540 |
HOGENOMi | CLU_030187_0_0_1 |
InParanoidi | Q96IV0 |
OMAi | SPLMYQH |
OrthoDBi | 917526at2759 |
PhylomeDBi | Q96IV0 |
TreeFami | TF315254 |
Family and domain databases
Gene3Di | 2.60.120.1020, 1 hit |
InterProi | View protein in InterPro IPR008979, Galactose-bd-like_sf IPR038765, Papain-like_cys_pep_sf IPR038680, PAW_sf IPR006588, Peptide_N_glycanase_PAW_dom IPR036339, PUB-like_dom_sf IPR018997, PUB_domain IPR002931, Transglutaminase-like |
Pfami | View protein in Pfam PF04721, PAW, 1 hit PF09409, PUB, 1 hit PF01841, Transglut_core, 1 hit |
SMARTi | View protein in SMART SM00613, PAW, 1 hit SM00580, PUG, 1 hit SM00460, TGc, 1 hit |
SUPFAMi | SSF143503, SSF143503, 1 hit SSF49785, SSF49785, 1 hit SSF54001, SSF54001, 1 hit |
PROSITEi | View protein in PROSITE PS51398, PAW, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAAALGSSS GSASPAVAEL CQNTPETFLE ASKLLLTYAD NILRNPNDEK
60 70 80 90 100
YRSIRIGNTA FSTRLLPVRG AVECLFEMGF EEGETHLIFP KKASVEQLQK
110 120 130 140 150
IRDLIAIERS SRLDGSNKSH KVKSSQQPAA STQLPTTPSS NPSGLNQHTR
160 170 180 190 200
NRQGQSSDPP SASTVAADSA ILEVLQSNIQ HVLVYENPAL QEKALACIPV
210 220 230 240 250
QELKRKSQEK LSRARKLDKG INISDEDFLL LELLHWFKEE FFHWVNNVLC
260 270 280 290 300
SKCGGQTRSR DRSLLPSDDE LKWGAKEVED HYCDACQFSN RFPRYNNPEK
310 320 330 340 350
LLETRCGRCG EWANCFTLCC RAVGFEARYV WDYTDHVWTE VYSPSQQRWL
360 370 380 390 400
HCDACEDVCD KPLLYEIGWG KKLSYVIAFS KDEVVDVTWR YSCKHEEVIA
410 420 430 440 450
RRTKVKEALL RDTINGLNKQ RQLFLSENRR KELLQRIIVE LVEFISPKTP
460 470 480 490 500
KPGELGGRIS GSVAWRVARG EMGLQRKETL FIPCENEKIS KQLHLCYNIV
510 520 530 540 550
KDRYVRVSNN NQTISGWENG VWKMESIFRK VETDWHMVYL ARKEGSSFAY
560 570 580 590 600
ISWKFECGSV GLKVDSISIR TSSQTFQTGT VEWKLRSDTA QVELTGDNSL
610 620 630 640 650
HSYADFSGAT EVILEAELSR GDGDVAWQHT QLFRQSLNDH EENCLEIIIK
FSDL
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0C4DFP4 | A0A0C4DFP4_HUMAN | N-glycanase 1 | NGLY1 | 633 | Annotation score: | ||
H0Y2P2 | H0Y2P2_HUMAN | Peptide-N(4)-(N-acetyl-beta-glucosa... | NGLY1 | 240 | Annotation score: | ||
C9JU75 | C9JU75_HUMAN | Peptide-N(4)-(N-acetyl-beta-glucosa... | NGLY1 | 114 | Annotation score: | ||
A0A6Q8PF23 | A0A6Q8PF23_HUMAN | Peptide-N(4)-(N-acetyl-beta-glucosa... | NGLY1 | 644 | Annotation score: | ||
A0A6Q8PFQ1 | A0A6Q8PFQ1_HUMAN | Peptide-N(4)-(N-acetyl-beta-glucosa... | NGLY1 | 91 | Annotation score: | ||
A0A6Q8PGC8 | A0A6Q8PGC8_HUMAN | Peptide-N(4)-(N-acetyl-beta-glucosa... | NGLY1 | 224 | Annotation score: | ||
A0A6Q8PHH7 | A0A6Q8PHH7_HUMAN | Peptide-N(4)-(N-acetyl-beta-glucosa... | NGLY1 | 177 | Annotation score: | ||
A0A6Q8PHJ3 | A0A6Q8PHJ3_HUMAN | Peptide-N(4)-(N-acetyl-beta-glucosa... | NGLY1 | 426 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027385 | 581 | V → I. Corresponds to variant dbSNP:rs7621398Ensembl. | 1 | |
Natural variantiVAR_027386 | 591 | Q → R. Corresponds to variant dbSNP:rs7635089Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_020343 | 1 – 523 | Missing in isoform 4. 1 PublicationAdd BLAST | 523 | |
Alternative sequenceiVSP_043501 | 1 – 43 | MAAAA…ADNIL → M in isoform 5. 1 PublicationAdd BLAST | 43 | |
Alternative sequenceiVSP_020344 | 335 – 383 | DHVWT…FSKDE → ELQRTLSLKLTTLKEIGKTF LRISKRQKLIQ in isoform 2. 1 PublicationAdd BLAST | 49 | |
Alternative sequenceiVSP_020345 | 538 – 558 | VYLAR…KFECG → ITVFTPMLIFLVPLKLFWKQ N in isoform 3. 1 PublicationAdd BLAST | 21 | |
Alternative sequenceiVSP_020346 | 559 – 654 | Missing in isoform 3. 1 PublicationAdd BLAST | 96 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF250924 mRNA Translation: AAF74720.2 AK296047 mRNA Translation: BAG58811.1 AB209549 mRNA Translation: BAD92786.1 Different initiation. AC092798 Genomic DNA No translation available. BC000963 mRNA Translation: AAH00963.1 BC007226 mRNA Translation: AAH07226.1 BC017220 mRNA Translation: AAH17220.1 Sequence problems. |
CCDSi | CCDS33719.1 [Q96IV0-1] CCDS46777.1 [Q96IV0-5] CCDS46778.1 [Q96IV0-2] CCDS46779.1 [Q96IV0-3] |
RefSeqi | NP_001138765.1, NM_001145293.1 [Q96IV0-2] NP_001138766.1, NM_001145294.1 [Q96IV0-5] NP_001138767.1, NM_001145295.1 [Q96IV0-3] NP_060767.2, NM_018297.3 [Q96IV0-1] |
Genome annotation databases
Ensembli | ENST00000280700; ENSP00000280700; ENSG00000151092 [Q96IV0-1] ENST00000396649; ENSP00000379886; ENSG00000151092 [Q96IV0-3] ENST00000417874; ENSP00000389888; ENSG00000151092 [Q96IV0-5] ENST00000428257; ENSP00000387430; ENSG00000151092 [Q96IV0-2] |
GeneIDi | 55768 |
KEGGi | hsa:55768 |
UCSCi | uc003cdl.4, human [Q96IV0-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF250924 mRNA Translation: AAF74720.2 AK296047 mRNA Translation: BAG58811.1 AB209549 mRNA Translation: BAD92786.1 Different initiation. AC092798 Genomic DNA No translation available. BC000963 mRNA Translation: AAH00963.1 BC007226 mRNA Translation: AAH07226.1 BC017220 mRNA Translation: AAH17220.1 Sequence problems. |
CCDSi | CCDS33719.1 [Q96IV0-1] CCDS46777.1 [Q96IV0-5] CCDS46778.1 [Q96IV0-2] CCDS46779.1 [Q96IV0-3] |
RefSeqi | NP_001138765.1, NM_001145293.1 [Q96IV0-2] NP_001138766.1, NM_001145294.1 [Q96IV0-5] NP_001138767.1, NM_001145295.1 [Q96IV0-3] NP_060767.2, NM_018297.3 [Q96IV0-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2CCQ | X-ray | 1.60 | A | 11-109 | [»] | |
2CM0 | X-ray | 1.90 | A | 11-109 | [»] | |
SMRi | Q96IV0 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120885, 39 interactors |
IntActi | Q96IV0, 23 interactors |
MINTi | Q96IV0 |
STRINGi | 9606.ENSP00000280700 |
PTM databases
iPTMneti | Q96IV0 |
PhosphoSitePlusi | Q96IV0 |
Polymorphism and mutation databases
BioMutai | NGLY1 |
DMDMi | 74732105 |
Proteomic databases
EPDi | Q96IV0 |
jPOSTi | Q96IV0 |
MassIVEi | Q96IV0 |
MaxQBi | Q96IV0 |
PaxDbi | Q96IV0 |
PeptideAtlasi | Q96IV0 |
PRIDEi | Q96IV0 |
ProteomicsDBi | 76857 [Q96IV0-1] 76858 [Q96IV0-2] 76859 [Q96IV0-3] 76860 [Q96IV0-4] 76861 [Q96IV0-5] |
Protocols and materials databases
Antibodypediai | 27393, 44 antibodies |
DNASUi | 55768 |
Genome annotation databases
Ensembli | ENST00000280700; ENSP00000280700; ENSG00000151092 [Q96IV0-1] ENST00000396649; ENSP00000379886; ENSG00000151092 [Q96IV0-3] ENST00000417874; ENSP00000389888; ENSG00000151092 [Q96IV0-5] ENST00000428257; ENSP00000387430; ENSG00000151092 [Q96IV0-2] |
GeneIDi | 55768 |
KEGGi | hsa:55768 |
UCSCi | uc003cdl.4, human [Q96IV0-1] |
Organism-specific databases
CTDi | 55768 |
DisGeNETi | 55768 |
EuPathDBi | HostDB:ENSG00000151092.16 |
GeneCardsi | NGLY1 |
GeneReviewsi | NGLY1 |
HGNCi | HGNC:17646, NGLY1 |
HPAi | ENSG00000151092, Low tissue specificity |
MalaCardsi | NGLY1 |
MIMi | 610661, gene 615273, phenotype |
neXtProti | NX_Q96IV0 |
OpenTargetsi | ENSG00000151092 |
Orphaneti | 404454, Alacrimia-choreoathetosis-liver dysfunction syndrome |
PharmGKBi | PA38462 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0909, Eukaryota |
GeneTreei | ENSGT00390000006540 |
HOGENOMi | CLU_030187_0_0_1 |
InParanoidi | Q96IV0 |
OMAi | SPLMYQH |
OrthoDBi | 917526at2759 |
PhylomeDBi | Q96IV0 |
TreeFami | TF315254 |
Enzyme and pathway databases
PathwayCommonsi | Q96IV0 |
Reactomei | R-HSA-532668, N-glycan trimming in the ER and Calnexin/Calreticulin cycle |
SIGNORi | Q96IV0 |
Miscellaneous databases
BioGRID-ORCSi | 55768, 67 hits in 839 CRISPR screens |
ChiTaRSi | NGLY1, human |
EvolutionaryTracei | Q96IV0 |
GeneWikii | NGLY1 |
GenomeRNAii | 55768 |
Pharosi | Q96IV0, Tbio |
PROi | PR:Q96IV0 |
RNActi | Q96IV0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000151092, Expressed in testis and 238 other tissues |
ExpressionAtlasi | Q96IV0, baseline and differential |
Genevisiblei | Q96IV0, HS |
Family and domain databases
Gene3Di | 2.60.120.1020, 1 hit |
InterProi | View protein in InterPro IPR008979, Galactose-bd-like_sf IPR038765, Papain-like_cys_pep_sf IPR038680, PAW_sf IPR006588, Peptide_N_glycanase_PAW_dom IPR036339, PUB-like_dom_sf IPR018997, PUB_domain IPR002931, Transglutaminase-like |
Pfami | View protein in Pfam PF04721, PAW, 1 hit PF09409, PUB, 1 hit PF01841, Transglut_core, 1 hit |
SMARTi | View protein in SMART SM00613, PAW, 1 hit SM00580, PUG, 1 hit SM00460, TGc, 1 hit |
SUPFAMi | SSF143503, SSF143503, 1 hit SSF49785, SSF49785, 1 hit SSF54001, SSF54001, 1 hit |
PROSITEi | View protein in PROSITE PS51398, PAW, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NGLY1_HUMAN | |
Accessioni | Q96IV0Primary (citable) accession number: Q96IV0 Secondary accession number(s): B4DJE9 Q9NR70 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 5, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 157 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations