Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NGLY1 (N-glycanase 1)

Identity

Alias_symbol (synonym)FLJ11005
PNG1
Other aliasCDDG
CDG1V
PNGase
HGNC (Hugo) NGLY1
LocusID (NCBI) 55768
Atlas_Id 54501
Location 3p24.2  [Link to chromosome band 3p24]
Location_base_pair Starts at 25760435 and ends at 25824989 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCKBR (11p15.4) / NGLY1 (3p24.2)HERC3 (4q22.1) / NGLY1 (3p24.2)NGLY1 (3p24.2) / CCKBR (11p15.4)
NGLY1 (3p24.2) / MAP4 (3p21.31)NGLY1 (3p24.2) / RPL3 (22q13.1)SLIRP (14q24.3) / NGLY1 (3p24.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)NGLY1   17646
Cards
Entrez_Gene (NCBI)NGLY1  55768  N-glycanase 1
AliasesCDDG; CDG1V; PNG1; PNGase
GeneCards (Weizmann)NGLY1
Ensembl hg19 (Hinxton)ENSG00000151092 [Gene_View]  chr3:25760435-25824989 [Contig_View]  NGLY1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000151092 [Gene_View]  chr3:25760435-25824989 [Contig_View]  NGLY1 [Vega]
ICGC DataPortalENSG00000151092
TCGA cBioPortalNGLY1
AceView (NCBI)NGLY1
Genatlas (Paris)NGLY1
WikiGenes55768
SOURCE (Princeton)NGLY1
Genetics Home Reference (NIH)NGLY1
Genomic and cartography
GoldenPath hg19 (UCSC)NGLY1  -     chr3:25760435-25824989 -  3p24.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NGLY1  -     3p24.2   [Description]    (hg38-Dec_2013)
EnsemblNGLY1 - 3p24.2 [CytoView hg19]  NGLY1 - 3p24.2 [CytoView hg38]
Mapping of homologs : NCBINGLY1 [Mapview hg19]  NGLY1 [Mapview hg38]
OMIM610661   615273   
Gene and transcription
Genbank (Entrez)AB114414 AB114415 AB209549 AF250924 AK001867
RefSeq transcript (Entrez)NM_001145293 NM_001145294 NM_001145295 NM_018297 NM_025105
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_034108 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)NGLY1
Cluster EST : UnigeneHs.368960 [ NCBI ]
CGAP (NCI)Hs.368960
Alternative Splicing GalleryENSG00000151092
Gene ExpressionNGLY1 [ NCBI-GEO ]   NGLY1 [ EBI - ARRAY_EXPRESS ]   NGLY1 [ SEEK ]   NGLY1 [ MEM ]
Gene Expression Viewer (FireBrowse)NGLY1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55768
GTEX Portal (Tissue expression)NGLY1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96IV0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96IV0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96IV0
Splice isoforms : SwissVarQ96IV0
Catalytic activity : Enzyme3.5.1.52 [ Enzyme-Expasy ]   3.5.1.523.5.1.52 [ IntEnz-EBI ]   3.5.1.52 [ BRENDA ]   3.5.1.52 [ KEGG ]   
PhosPhoSitePlusQ96IV0
Domaine pattern : Prosite (Expaxy)PAW (PS51398)   
Domains : Interpro (EBI)Galactose-bd-like    Peptide_N_glycanase_PAW_dom    PUB_domain    PUG-dom    Transglutaminase-like   
Domain families : Pfam (Sanger)PAW (PF04721)    PUB (PF09409)    Transglut_core (PF01841)   
Domain families : Pfam (NCBI)pfam04721    pfam09409    pfam01841   
Domain families : Smart (EMBL)PAW (SM00613)  PUG (SM00580)  TGc (SM00460)  
Conserved Domain (NCBI)NGLY1
DMDM Disease mutations55768
Blocks (Seattle)NGLY1
PDB (SRS)2CCQ    2CM0   
PDB (PDBSum)2CCQ    2CM0   
PDB (IMB)2CCQ    2CM0   
PDB (RSDB)2CCQ    2CM0   
Structural Biology KnowledgeBase2CCQ    2CM0   
SCOP (Structural Classification of Proteins)2CCQ    2CM0   
CATH (Classification of proteins structures)2CCQ    2CM0   
SuperfamilyQ96IV0
Human Protein AtlasENSG00000151092
Peptide AtlasQ96IV0
HPRD10118
IPIIPI00074605   IPI00165496   IPI00784922   IPI00385829   IPI00927100   IPI00927361   
Protein Interaction databases
DIP (DOE-UCLA)Q96IV0
IntAct (EBI)Q96IV0
FunCoupENSG00000151092
BioGRIDNGLY1
STRING (EMBL)NGLY1
ZODIACNGLY1
Ontologies - Pathways
QuickGOQ96IV0
Ontology : AmiGOpeptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity  protein binding  cytoplasm  glycoprotein catabolic process  metal ion binding  
Ontology : EGO-EBIpeptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity  protein binding  cytoplasm  glycoprotein catabolic process  metal ion binding  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkNGLY1
Atlas of Cancer Signalling NetworkNGLY1
Wikipedia pathwaysNGLY1
Orthology - Evolution
OrthoDB55768
GeneTree (enSembl)ENSG00000151092
Phylogenetic Trees/Animal Genes : TreeFamNGLY1
HOVERGENQ96IV0
HOGENOMQ96IV0
Homologs : HomoloGeneNGLY1
Homology/Alignments : Family Browser (UCSC)NGLY1
Gene fusions - Rearrangements
Fusion : MitelmanNGLY1/CCKBR [3p24.2/11p15.4]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNGLY1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NGLY1
dbVarNGLY1
ClinVarNGLY1
1000_GenomesNGLY1 
Exome Variant ServerNGLY1
ExAC (Exome Aggregation Consortium)NGLY1 (select the gene name)
Genetic variants : HAPMAP55768
Genomic Variants (DGV)NGLY1 [DGVbeta]
DECIPHER (Syndromes)3:25760435-25824989  ENSG00000151092
CONAN: Copy Number AnalysisNGLY1 
Mutations
ICGC Data PortalNGLY1 
TCGA Data PortalNGLY1 
Broad Tumor PortalNGLY1
OASIS PortalNGLY1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNGLY1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNGLY1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NGLY1
DgiDB (Drug Gene Interaction Database)NGLY1
DoCM (Curated mutations)NGLY1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NGLY1 (select a term)
intoGenNGLY1
Cancer3DNGLY1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610661    615273   
Orphanet22923   
MedgenNGLY1
Genetic Testing Registry NGLY1
NextProtQ96IV0 [Medical]
TSGene55768
GENETestsNGLY1
Huge Navigator NGLY1 [HugePedia]
snp3D : Map Gene to Disease55768
BioCentury BCIQNGLY1
ClinGenNGLY1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55768
Chemical/Pharm GKB GenePA38462
Clinical trialNGLY1
Miscellaneous
canSAR (ICR)NGLY1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNGLY1
EVEXNGLY1
GoPubMedNGLY1
iHOPNGLY1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 13:18:48 CET 2017

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