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NAGLU (N-acetyl-alpha-glucosaminidase)

Identity

Alias_namesN-acetylglucosaminidase
Alias_symbol (synonym)NAG
Other aliasCMT2V
MPS-IIIB
MPS3B
UFHSD
HGNC (Hugo) NAGLU
LocusID (NCBI) 4669
Atlas_Id 55438
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 40687951 and ends at 40696466 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NAGLU (17q21.2) / HIP1R (12q24.31)

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

 


External links

Nomenclature
HGNC (Hugo)NAGLU   7632
Cards
Entrez_Gene (NCBI)NAGLU  4669  N-acetyl-alpha-glucosaminidase
AliasesCMT2V; MPS-IIIB; MPS3B; NAG; 
UFHSD
GeneCards (Weizmann)NAGLU
Ensembl hg19 (Hinxton)ENSG00000108784 [Gene_View]  chr17:40687951-40696466 [Contig_View]  NAGLU [Vega]
Ensembl hg38 (Hinxton)ENSG00000108784 [Gene_View]  chr17:40687951-40696466 [Contig_View]  NAGLU [Vega]
ICGC DataPortalENSG00000108784
TCGA cBioPortalNAGLU
AceView (NCBI)NAGLU
Genatlas (Paris)NAGLU
WikiGenes4669
SOURCE (Princeton)NAGLU
Genetics Home Reference (NIH)NAGLU
Genomic and cartography
GoldenPath hg19 (UCSC)NAGLU  -     chr17:40687951-40696466 +  17q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NAGLU  -     17q21.2   [Description]    (hg38-Dec_2013)
EnsemblNAGLU - 17q21.2 [CytoView hg19]  NAGLU - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBINAGLU [Mapview hg19]  NAGLU [Mapview hg38]
OMIM252920   609701   616491   
Gene and transcription
Genbank (Entrez)AI299657 BC053991 BF435029 BQ012843 HM005331
RefSeq transcript (Entrez)NM_000263
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_011552 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)NAGLU
Cluster EST : UnigeneHs.50727 [ NCBI ]
CGAP (NCI)Hs.50727
Alternative Splicing GalleryENSG00000108784
Gene ExpressionNAGLU [ NCBI-GEO ]   NAGLU [ EBI - ARRAY_EXPRESS ]   NAGLU [ SEEK ]   NAGLU [ MEM ]
Gene Expression Viewer (FireBrowse)NAGLU [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4669
GTEX Portal (Tissue expression)NAGLU
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54802   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54802  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54802
Splice isoforms : SwissVarP54802
Catalytic activity : Enzyme3.2.1.50 [ Enzyme-Expasy ]   3.2.1.503.2.1.50 [ IntEnz-EBI ]   3.2.1.50 [ BRENDA ]   3.2.1.50 [ KEGG ]   
PhosPhoSitePlusP54802
Domains : Interpro (EBI)Glycoside_hydrolase_SF    NAGLU    NAGLU_C    NAGLU_N    NAGLU_tim-barrel   
Domain families : Pfam (Sanger)NAGLU (PF05089)    NAGLU_C (PF12972)    NAGLU_N (PF12971)   
Domain families : Pfam (NCBI)pfam05089    pfam12972    pfam12971   
Conserved Domain (NCBI)NAGLU
DMDM Disease mutations4669
Blocks (Seattle)NAGLU
PDB (SRS)4XWH   
PDB (PDBSum)4XWH   
PDB (IMB)4XWH   
PDB (RSDB)4XWH   
Structural Biology KnowledgeBase4XWH   
SCOP (Structural Classification of Proteins)4XWH   
CATH (Classification of proteins structures)4XWH   
SuperfamilyP54802
Human Protein AtlasENSG00000108784
Peptide AtlasP54802
HPRD02017
IPIIPI00008787   IPI00555656   IPI00746033   
Protein Interaction databases
DIP (DOE-UCLA)P54802
IntAct (EBI)P54802
FunCoupENSG00000108784
BioGRIDNAGLU
STRING (EMBL)NAGLU
ZODIACNAGLU
Ontologies - Pathways
QuickGOP54802
Ontology : AmiGOalpha-N-acetylglucosaminidase activity  lysosome  glycosaminoglycan catabolic process  lysosome organization  nervous system development  cerebellar Purkinje cell layer development  middle ear morphogenesis  lysosomal lumen  locomotor rhythm  retinal rod cell development  inner ear receptor cell development  extracellular exosome  
Ontology : EGO-EBIalpha-N-acetylglucosaminidase activity  lysosome  glycosaminoglycan catabolic process  lysosome organization  nervous system development  cerebellar Purkinje cell layer development  middle ear morphogenesis  lysosomal lumen  locomotor rhythm  retinal rod cell development  inner ear receptor cell development  extracellular exosome  
Pathways : KEGGGlycosaminoglycan degradation    Lysosome   
NDEx NetworkNAGLU
Atlas of Cancer Signalling NetworkNAGLU
Wikipedia pathwaysNAGLU
Orthology - Evolution
OrthoDB4669
GeneTree (enSembl)ENSG00000108784
Phylogenetic Trees/Animal Genes : TreeFamNAGLU
HOVERGENP54802
HOGENOMP54802
Homologs : HomoloGeneNAGLU
Homology/Alignments : Family Browser (UCSC)NAGLU
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNAGLU [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NAGLU
dbVarNAGLU
ClinVarNAGLU
1000_GenomesNAGLU 
Exome Variant ServerNAGLU
ExAC (Exome Aggregation Consortium)NAGLU (select the gene name)
Genetic variants : HAPMAP4669
Genomic Variants (DGV)NAGLU [DGVbeta]
DECIPHER (Syndromes)17:40687951-40696466  ENSG00000108784
CONAN: Copy Number AnalysisNAGLU 
Mutations
ICGC Data PortalNAGLU 
TCGA Data PortalNAGLU 
Broad Tumor PortalNAGLU
OASIS PortalNAGLU [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNAGLU  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNAGLU
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 NAGLU
DgiDB (Drug Gene Interaction Database)NAGLU
DoCM (Curated mutations)NAGLU (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NAGLU (select a term)
intoGenNAGLU
Cancer3DNAGLU(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252920    609701    616491   
Orphanet23555    11296   
MedgenNAGLU
Genetic Testing Registry NAGLU
NextProtP54802 [Medical]
TSGene4669
GENETestsNAGLU
Huge Navigator NAGLU [HugePedia]
snp3D : Map Gene to Disease4669
BioCentury BCIQNAGLU
ClinGenNAGLU
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4669
Chemical/Pharm GKB GenePA31437
Clinical trialNAGLU
Miscellaneous
canSAR (ICR)NAGLU (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNAGLU
EVEXNAGLU
GoPubMedNAGLU
iHOPNAGLU
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:18:04 CET 2017

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