NGLY1

Functionⁱ

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 Asn to Asp. Prefers proteins containing high-mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins.2 Publications

Miscellaneous

In case of infection by cytomegaloviruses, it is not essential for degradation of MHC class I heavy chains.

Catalytic activityⁱ

Hydrolysis of an N₄-(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.

Cofactorⁱ

Zn²⁺By similarityNote: Binds 1 zinc ion per subunit.By similarity

Activity regulationⁱ

Inhibited by Z-VAD-fmk, a well-known caspase inhibitor, which inhibits enzyme activity through covalent binding of the carbohydrate to the single Cys-306 residue.1 Publication

Sites

Feature key	Position(s)	DescriptionActions	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
Inferred from genetic interactionⁱ
- 28826503

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

glycoprotein catabolic process
Source: UniProtKB
Inferred from direct assayⁱ
- 15358861
protein deglycosylation
Source: FlyBase
Inferred from direct assayⁱ
- 28826503
protein folding Source: Reactome
protein quality control for misfolded or incompletely synthesized proteins Source: GO_Central

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Hydrolase
Ligand	Metal-binding, Zinc

Enzyme and pathway databases

Reactomeⁱ	R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle

Reactomeⁱ

R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000151092.16
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:17646 NGLY1
MIMⁱ	610661 gene
neXtProtⁱ	NX_Q96IV0

Keywords - Cellular componentⁱ

Cytoplasm

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Congenital disorder of deglycosylation (CDDG)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles.

Organism-specific databases

DisGeNET More...DisGeNETⁱ	55768
MalaCards human disease database More...MalaCardsⁱ	NGLY1
MIMⁱ	615273 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000151092
Orphanetⁱ	404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
PharmGKBⁱ	PA38462

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, Phosphoprotein

Proteomic databases

EPDⁱ	Q96IV0
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96IV0
PaxDbⁱ	Q96IV0
PeptideAtlas More...PeptideAtlasⁱ	Q96IV0
PRIDEⁱ	Q96IV0
ProteomicsDBⁱ	76857 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 225 organ(s), highest expression level in sperm
CleanExⁱ	HS_NGLY1
ExpressionAtlasⁱ	Q96IV0 baseline and differential
Genevisibleⁱ	Q96IV0 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA036825

HPAⁱ

HPA036825

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 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
GUCD1	Q96NT3	3	EBI-6165879,EBI-8293751
NPAS2	Q99743	4	EBI-6165879,EBI-3932727
RAD23A	P54725	9	EBI-6165879,EBI-746453
RAD23B	P54727	7	EBI-6165879,EBI-954531
TRAFD1	O14545	5	EBI-6165879,EBI-1396921
TRIM54	Q9BYV2	5	EBI-6165879,EBI-2130429
UBQLN1	Q9UMX0	5	EBI-6165879,EBI-741480
UBQLN1	Q9UMX0-2	3	EBI-6165879,EBI-10173939
UBXN2B	Q14CS0	5	EBI-6165879,EBI-1993619

Protein-protein interaction databases

BioGridⁱ	120885, 29 interactors
IntActⁱ	Q96IV0, 17 interactors
Molecular INTeraction database More...MINTⁱ	Q96IV0
STRINGⁱ	9606.ENSP00000280700

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	15 – 20	Combined sources	6
Helixⁱ	25 – 44	Combined sources	20
Helixⁱ	49 – 52	Combined sources	4
Beta strandⁱ	53 – 55	Combined sources	3
Helixⁱ	59 – 64	Combined sources	6
Turnⁱ	65 – 67	Combined sources	3
Helixⁱ	71 – 78	Combined sources	8
Beta strandⁱ	84 – 88	Combined sources	5
Helixⁱ	95 – 106	Combined sources	12

Show more details

3D structure databases

ProteinModelPortalⁱ	Q96IV0
SMRⁱ	Q96IV0
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q96IV0

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

The PUB domain mediates the interaction with VCP.1 Publication

Sequence similaritiesⁱ

Belongs to the transglutaminase-like superfamily. PNGase family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGⁱ	KOG0909 Eukaryota ENOG410XP69 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000006540
HOGENOMⁱ	HOG000247069
HOVERGENⁱ	HBG082026
InParanoidⁱ	Q96IV0
KEGG Orthology (KO) More...KOⁱ	K01456
OMAⁱ	VAWQHTQ
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G09YB
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
Pfam protein domain database More...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

Sequences (5+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q96IV0-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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

Length:654

Mass (Da):74,390

Last modified:December 1, 2001 - v1

Checksum:ⁱ94BD44316EA66AF6

GO

Isoform 2 (identifier: Q96IV0-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
335-383: DHVWTEVYSP...SYVIAFSKDE → ELQRTLSLKLTTLKEIGKTFLRISKRQKLIQ

« Hide

        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 WDYTELQRTL SLKLTTLKEI 
       360        370        380        390        400
GKTFLRISKR QKLIQVVDVT WRYSCKHEEV IARRTKVKEA LLRDTINGLN 
       410        420        430        440        450
KQRQLFLSEN RRKELLQRII VELVEFISPK TPKPGELGGR ISGSVAWRVA 
       460        470        480        490        500
RGEMGLQRKE TLFIPCENEK ISKQLHLCYN IVKDRYVRVS NNNQTISGWE 
       510        520        530        540        550
NGVWKMESIF RKVETDWHMV YLARKEGSSF AYISWKFECG SVGLKVDSIS 
       560        570        580        590        600
IRTSSQTFQT GTVEWKLRSD TAQVELTGDN SLHSYADFSG ATEVILEAEL 
       610        620        630 
SRGDGDVAWQ HTQLFRQSLN DHEENCLEII IKFSDL

Note: No experimental confirmation available.

Show »

Length:636

Mass (Da):72,285

Checksum:ⁱD849C0692A2BE43C

GO

Isoform 3 (identifier: Q96IV0-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
538-558: VYLARKEGSSFAYISWKFECG → ITVFTPMLIFLVPLKLFWKQN
559-654: Missing.

« Hide

        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 VETDWHMITV FTPMLIFLVP 

LKLFWKQN

Note: No experimental confirmation available.

Show »

Length:558

Mass (Da):63,828

Checksum:ⁱCD62CB033403556D

GO

Isoform 4 (identifier: Q96IV0-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-523: Missing.

« Hide

        10         20         30         40         50
MESIFRKVET DWHMVYLARK EGSSFAYISW KFECGSVGLK VDSISIRTSS 
        60         70         80         90        100
QTFQTGTVEW KLRSDTAQVE LTGDNSLHSY ADFSGATEVI LEAELSRGDG 
       110        120        130 
DVAWQHTQLF RQSLNDHEEN CLEIIIKFSD L

Note: No experimental confirmation available.

Show »

Length:131

Mass (Da):14,903

Checksum:ⁱ6E406845F36E6C32

GO

Isoform 5 (identifier: Q96IV0-5) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-43: MAAAALGSSSGSASPAVAELCQNTPETFLEASKLLLTYADNIL → M

« Hide

        10         20         30         40         50
MRNPNDEKYR SIRIGNTAFS TRLLPVRGAV ECLFEMGFEE GETHLIFPKK 
        60         70         80         90        100
ASVEQLQKIR DLIAIERSSR LDGSNKSHKV KSSQQPAAST QLPTTPSSNP 
       110        120        130        140        150
SGLNQHTRNR QGQSSDPPSA STVAADSAIL EVLQSNIQHV LVYENPALQE 
       160        170        180        190        200
KALACIPVQE LKRKSQEKLS RARKLDKGIN ISDEDFLLLE LLHWFKEEFF 
       210        220        230        240        250
HWVNNVLCSK CGGQTRSRDR SLLPSDDELK WGAKEVEDHY CDACQFSNRF 
       260        270        280        290        300
PRYNNPEKLL ETRCGRCGEW ANCFTLCCRA VGFEARYVWD YTDHVWTEVY 
       310        320        330        340        350
SPSQQRWLHC DACEDVCDKP LLYEIGWGKK LSYVIAFSKD EVVDVTWRYS 
       360        370        380        390        400
CKHEEVIARR TKVKEALLRD TINGLNKQRQ LFLSENRRKE LLQRIIVELV 
       410        420        430        440        450
EFISPKTPKP GELGGRISGS VAWRVARGEM GLQRKETLFI PCENEKISKQ 
       460        470        480        490        500
LHLCYNIVKD RYVRVSNNNQ TISGWENGVW KMESIFRKVE TDWHMVYLAR 
       510        520        530        540        550
KEGSSFAYIS WKFECGSVGL KVDSISIRTS SQTFQTGTVE WKLRSDTAQV 
       560        570        580        590        600
ELTGDNSLHS YADFSGATEV ILEAELSRGD GDVAWQHTQL FRQSLNDHEE 
       610 
NCLEIIIKFS DL

Note: No experimental confirmation available.

Show »

Length:612

Mass (Da):70,211

Checksum:ⁱ074E78C048976A1D

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A0C4DFP4	A0A0C4DFP4_HUMAN	Peptide-N(4)-(N-acetyl-beta-glucosa... Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	NGLY1	633	Annotation score:
H0Y2P2	H0Y2P2_HUMAN	Peptide-N(4)-(N-acetyl-beta-glucosa... Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	NGLY1	240	Annotation score:
C9JU75	C9JU75_HUMAN	Peptide-N(4)-(N-acetyl-beta-glucosa... Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	NGLY1	114	Annotation score:

Sequence cautionⁱ

The sequence AAH17220 differs from that shown. Reason: Erroneous termination at position 77. Translated as Glu.Curated

The sequence BAD92786 differs from that shown. Reason: Erroneous initiation.Curated

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	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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33719.1 [Q96IV0-1] CCDS46777.1 [Q96IV0-5] CCDS46778.1 [Q96IV0-2] CCDS46779.1 [Q96IV0-3]
NCBI Reference Sequences More...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]
UniGeneⁱ	Hs.368960

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
UCSC genome browser More...UCSCⁱ	uc003cdl.4 human [Q96IV0-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q96IV0	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (Fragment)		HUMAN		114	UniRef100_Q96IV0
Isoform 4 of Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase		HUMAN		131
UPI0001950889		HUMAN		577
Q96IV0-2	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (Fragment)		HUMAN		633	UniRef100_Q96IV0-2

Protein	Similar proteins		Species	Score	Length	Source
Q96IV0	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase		MACFA		654	UniRef90_Q96IV0
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (Fragment)		HUMAN		114
N-glycanase 1		GORGO		655
Uncharacterized protein		RHIRO		654
Uncharacterized protein		PAPAN		654
+32
Q96IV0-2	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (Fragment)		HUMAN		633	UniRef90_Q96IV0-2
Uncharacterized protein		NOMLE		641
Uncharacterized protein		RHIBE		635
Uncharacterized protein		CALJA		629
Uncharacterized protein		AOTNA		628
+2
Q96IV0-3	N-glycanase 1		PANTR		591	UniRef90_Q96IV0-3
N-glycanase 1		GORGO		559
Uncharacterized protein		PANPA		558
Uncharacterized protein		RHIRO		558
Uncharacterized protein		CALJA		558
+12
Q96IV0-5	Uncharacterized protein		CERAT		631	UniRef90_Q96IV0-5
Uncharacterized protein (Fragment)		MACMU		613
Uncharacterized protein (Fragment)		MACFA		613
N-glycanase 1		PANTR		612
Uncharacterized protein		PANPA		612
+9

Protein	Similar proteins		Species	Score	Length	Source
Q96IV0	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase		MACFA		654	UniRef50_Q96IV0
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase		RAT		651
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	)	MOUSE		651
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (Fragment)		HUMAN		114
N-glycanase 1		GORGO		655
+297
Q96IV0-2	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (Fragment)		HUMAN		633	UniRef50_Q96IV0-2
Uncharacterized protein		NOMLE		641
Uncharacterized protein		RHIBE		635
Uncharacterized protein		CALJA		629
Uncharacterized protein		AOTNA		628
+119
Q96IV0-3	Isoform 2 of Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase		HUMAN		636	UniRef50_Q96IV0-2
Uncharacterized protein		NOMLE		641
Uncharacterized protein		RHIBE		635
Uncharacterized protein		CALJA		629
Uncharacterized protein		AOTNA		628
+119

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]
UniGeneⁱ	Hs.368960

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
ProteinModelPortalⁱ	Q96IV0
SMRⁱ	Q96IV0
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	120885, 29 interactors
IntActⁱ	Q96IV0, 17 interactors
MINTⁱ	Q96IV0
STRINGⁱ	9606.ENSP00000280700

PTM databases

iPTMnetⁱ	Q96IV0
PhosphoSitePlusⁱ	Q96IV0

Polymorphism and mutation databases

BioMutaⁱ	NGLY1
DMDMⁱ	74732105

Proteomic databases

EPDⁱ	Q96IV0
MaxQBⁱ	Q96IV0
PaxDbⁱ	Q96IV0
PeptideAtlasⁱ	Q96IV0
PRIDEⁱ	Q96IV0
ProteomicsDBⁱ	76857 76858 [Q96IV0-2] 76859 [Q96IV0-3] 76860 [Q96IV0-4] 76861 [Q96IV0-5]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	55768
Structural Biology Knowledgebase	Search...

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
HGNCⁱ	HGNC:17646 NGLY1
HPAⁱ	HPA036825
MalaCardsⁱ	NGLY1
MIMⁱ	610661 gene 615273 phenotype
neXtProtⁱ	NX_Q96IV0
OpenTargetsⁱ	ENSG00000151092
Orphanetⁱ	404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
PharmGKBⁱ	PA38462
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0909 Eukaryota ENOG410XP69 LUCA
GeneTreeⁱ	ENSGT00390000006540
HOGENOMⁱ	HOG000247069
HOVERGENⁱ	HBG082026
InParanoidⁱ	Q96IV0
KOⁱ	K01456
OMAⁱ	VAWQHTQ
OrthoDBⁱ	EOG091G09YB
PhylomeDBⁱ	Q96IV0
TreeFamⁱ	TF315254

Enzyme and pathway databases

Reactomeⁱ	R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle

Reactomeⁱ

R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle

Miscellaneous databases

ChiTaRSⁱ	NGLY1 human
EvolutionaryTraceⁱ	Q96IV0
GeneWikiⁱ	NGLY1
GenomeRNAiⁱ	55768
Protein Ontology More...PROⁱ	PR:Q96IV0
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000151092 Expressed in 225 organ(s), highest expression level in sperm
CleanExⁱ	HS_NGLY1
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...

Entry informationⁱ

Entry nameⁱ	NGLY1_HUMAN
Accessionⁱ	Q96IV0Primary (citable) accession number: Q96IV0 Secondary accession number(s): B4DJE9 , Q59FB1, Q6PJD8, Q9BVR8, Q9NR70
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	September 5, 2006
	Last sequence update:	December 1, 2001
	Last modified:	September 12, 2018
	This is version 141 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, Complete proteome, Reference proteome

Documents

Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
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

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UniProtKB - Q96IV0 (NGLY1_HUMAN)

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Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Keywords - PTMi

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<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

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Keywords - Technical termⁱ