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UniProtKB - Q96IV0 (NGLY1_HUMAN)

Entry version 156 (07 Oct 2020)
Sequence version 1 (01 Dec 2001)
Previous versions | rss
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Protein

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

Gene

NGLY1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>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

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi250ZincBy similarity1
Metal bindingi253ZincBy similarity1
Metal bindingi283ZincBy similarity1
Metal bindingi286ZincBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei309NucleophileBy similarity1
Active sitei336By similarity1
Active sitei353By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96IV0

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q96IV0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NGLY1
Synonyms:PNG1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000151092.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:17646, NGLY1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610661, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96IV0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		55768

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		NGLY1

MalaCards human disease database

More...MalaCardsi		NGLY1
MIMi615273, phenotype

Open Targets

More...OpenTargetsi		ENSG00000151092

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		404454, Alacrimia-choreoathetosis-liver dysfunction syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38462

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96IV0, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NGLY1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74732105

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002489712 – 654Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidaseAdd BLAST653

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei137PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96IV0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96IV0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96IV0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96IV0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96IV0

PeptideAtlas

More...PeptideAtlasi		Q96IV0

PRoteomics IDEntifications database

More...PRIDEi		Q96IV0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76857 [Q96IV0-1]
76858 [Q96IV0-2]
76859 [Q96IV0-3]
76860 [Q96IV0-4]
76861 [Q96IV0-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96IV0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96IV0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000151092, Expressed in testis and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96IV0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96IV0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000151092, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1654
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96IV0

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q96IV0

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini30 – 91PUBAdd BLAST62
Domaini454 – 654PAWPROSITE-ProRule annotationAdd BLAST201

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PUB domain mediates the interaction with VCP.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0909, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000006540

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_030187_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96IV0

KEGG Orthology (KO)

More...KOi		K01456

Identification of Orthologs from Complete Genome Data

More...OMAi		SPLMYQH

Database of Orthologous Groups

More...OrthoDBi		917526at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96IV0

TreeFam database of animal gene trees

More...TreeFami		TF315254

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.120.1020, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00613, PAW, 1 hit
SM00580, PUG, 1 hit
SM00460, TGc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF143503, SSF143503, 1 hit
SSF49785, SSF49785, 1 hit
SSF54001, SSF54001, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51398, PAW, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i94BD44316EA66AF6
GO
Isoform 2 (identifier: Q96IV0-2) [UniParc]FASTAAdd to basket

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

Show »
Length:636
Mass (Da):72,285
Checksum:iD849C0692A2BE43C
GO
Isoform 3 (identifier: Q96IV0-3) [UniParc]FASTAAdd to basket

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

Show »
Length:558
Mass (Da):63,828
Checksum:iCD62CB033403556D
GO
Isoform 4 (identifier: Q96IV0-4) [UniParc]FASTAAdd to basket

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

Show »
Length:131
Mass (Da):14,903
Checksum:i6E406845F36E6C32
GO
Isoform 5 (identifier: Q96IV0-5) [UniParc]FASTAAdd to basket

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

Show »
Length:612
Mass (Da):70,211
Checksum:i074E78C048976A1D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFP4A0A0C4DFP4_HUMAN
N-glycanase 1
NGLY1
633Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y2P2H0Y2P2_HUMAN
Peptide-N(4)-(N-acetyl-beta-glucosa...
NGLY1
240Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JU75C9JU75_HUMAN
Peptide-N(4)-(N-acetyl-beta-glucosa...
NGLY1
114Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<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

The sequence AAH17220 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
The sequence BAD92786 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027385581V → I. Corresponds to variant dbSNP:rs7621398Ensembl.1
Natural variantiVAR_027386591Q → R. Corresponds to variant dbSNP:rs7635089Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0203431 – 523Missing in isoform 4. 1 PublicationAdd BLAST523
Alternative sequenceiVSP_0435011 – 43MAAAA…ADNIL → M in isoform 5. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_020344335 – 383DHVWT…FSKDE → ELQRTLSLKLTTLKEIGKTF LRISKRQKLIQ in isoform 2. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_020345538 – 558VYLAR…KFECG → ITVFTPMLIFLVPLKLFWKQ N in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_020346559 – 654Missing in isoform 3. 1 PublicationAdd BLAST96

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000280700; ENSP00000280700; ENSG00000151092 [Q96IV0-1]
ENST00000396649; ENSP00000379886; ENSG00000151092 [Q96IV0-3]
ENST00000417874; ENSP00000389888; ENSG00000151092 [Q96IV0-5]
ENST00000428257; ENSP00000387430; ENSG00000151092 [Q96IV0-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55768

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55768

UCSC genome browser

More...UCSCi		uc003cdl.4, human [Q96IV0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS33719.1 [Q96IV0-1]
CCDS46777.1 [Q96IV0-5]
CCDS46778.1 [Q96IV0-2]
CCDS46779.1 [Q96IV0-3]
RefSeqiNP_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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CCQX-ray1.60A11-109[»]
2CM0X-ray1.90A11-109[»]
SMRiQ96IV0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120885, 39 interactors
IntActiQ96IV0, 23 interactors
MINTiQ96IV0
STRINGi9606.ENSP00000280700

PTM databases

iPTMnetiQ96IV0
PhosphoSitePlusiQ96IV0

Polymorphism and mutation databases

BioMutaiNGLY1
DMDMi74732105

Proteomic databases

EPDiQ96IV0
jPOSTiQ96IV0
MassIVEiQ96IV0
MaxQBiQ96IV0
PaxDbiQ96IV0
PeptideAtlasiQ96IV0
PRIDEiQ96IV0
ProteomicsDBi76857 [Q96IV0-1]
76858 [Q96IV0-2]
76859 [Q96IV0-3]
76860 [Q96IV0-4]
76861 [Q96IV0-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27393, 44 antibodies

The DNASU plasmid repository

More...DNASUi		55768

Genome annotation databases

EnsembliENST00000280700; ENSP00000280700; ENSG00000151092 [Q96IV0-1]
ENST00000396649; ENSP00000379886; ENSG00000151092 [Q96IV0-3]
ENST00000417874; ENSP00000389888; ENSG00000151092 [Q96IV0-5]
ENST00000428257; ENSP00000387430; ENSG00000151092 [Q96IV0-2]
GeneIDi55768
KEGGihsa:55768
UCSCiuc003cdl.4, human [Q96IV0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55768
DisGeNETi55768
EuPathDBiHostDB:ENSG00000151092.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		NGLY1
GeneReviewsiNGLY1
HGNCiHGNC:17646, NGLY1
HPAiENSG00000151092, Low tissue specificity
MalaCardsiNGLY1
MIMi610661, gene
615273, phenotype
neXtProtiNX_Q96IV0
OpenTargetsiENSG00000151092
Orphaneti404454, Alacrimia-choreoathetosis-liver dysfunction syndrome
PharmGKBiPA38462

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0909, Eukaryota
GeneTreeiENSGT00390000006540
HOGENOMiCLU_030187_0_0_1
InParanoidiQ96IV0
KOiK01456
OMAiSPLMYQH
OrthoDBi917526at2759
PhylomeDBiQ96IV0
TreeFamiTF315254

Enzyme and pathway databases

PathwayCommonsiQ96IV0
ReactomeiR-HSA-532668, N-glycan trimming in the ER and Calnexin/Calreticulin cycle
SIGNORiQ96IV0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55768, 67 hits in 867 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NGLY1, human
EvolutionaryTraceiQ96IV0

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NGLY1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55768
PharosiQ96IV0, Tbio

Protein Ontology

More...PROi		PR:Q96IV0
RNActiQ96IV0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000151092, Expressed in testis and 238 other tissues
ExpressionAtlasiQ96IV0, baseline and differential
GenevisibleiQ96IV0, HS

Family and domain databases

Gene3Di2.60.120.1020, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF04721, PAW, 1 hit
PF09409, PUB, 1 hit
PF01841, Transglut_core, 1 hit
SMARTiView protein in SMART
SM00613, PAW, 1 hit
SM00580, PUG, 1 hit
SM00460, TGc, 1 hit
SUPFAMiSSF143503, SSF143503, 1 hit
SSF49785, SSF49785, 1 hit
SSF54001, SSF54001, 1 hit
PROSITEiView protein in PROSITE
PS51398, PAW, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNGLY1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96IV0
Secondary accession number(s): B4DJE9
, Q59FB1, Q6PJD8, Q9BVR8, Q9NR70
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: December 1, 2001
Last modified: October 7, 2020
This is version 156 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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