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HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)

Identity

Alias_namesTMEM76
transmembrane protein 76
Alias_symbol (synonym)FLJ32731
HGNAT
Other aliasMPS3C
RP73
HGNC (Hugo) HGSNAT
LocusID (NCBI) 138050
Atlas_Id 54360
Location 8p11.21  [Link to chromosome band 8p11]
Location_base_pair Starts at 43140449 and ends at 43202827 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALDH18A1 (10q24.1) / HGSNAT (8p11.21)APOBEC3G (22q13.1) / HGSNAT (8p11.21)CHGA (14q32.12) / HGSNAT (8p11.21)
HGSNAT (8p11.21) / GPAT4 (8p11.21)HGSNAT (8p11.21) / HGSNAT (8p11.21)HGSNAT (8p11.21) / MBOAT1 (6p22.3)
HGSNAT (8p11.21) / VSTM2B (19q12)KCNQ1 (11p15.5) / HGSNAT (8p11.21)TYW1 (7q11.21) / HGSNAT (8p11.21)
HGSNAT 8p11.21 AGPAT6HGSNAT 8p11.21 / MBOAT1 6p22.3HGSNAT 8p11.21 / VSTM2B 19q12

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)HGSNAT   26527
Cards
Entrez_Gene (NCBI)HGSNAT  138050  heparan-alpha-glucosaminide N-acetyltransferase
AliasesHGNAT; MPS3C; RP73; TMEM76
GeneCards (Weizmann)HGSNAT
Ensembl hg19 (Hinxton)ENSG00000165102 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165102 [Gene_View]  chr8:43140449-43202827 [Contig_View]  HGSNAT [Vega]
ICGC DataPortalENSG00000165102
TCGA cBioPortalHGSNAT
AceView (NCBI)HGSNAT
Genatlas (Paris)HGSNAT
WikiGenes138050
SOURCE (Princeton)HGSNAT
Genetics Home Reference (NIH)HGSNAT
Genomic and cartography
GoldenPath hg38 (UCSC)HGSNAT  -     chr8:43140449-43202827 +  8p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HGSNAT  -     8p11.21   [Description]    (hg19-Feb_2009)
EnsemblHGSNAT - 8p11.21 [CytoView hg19]  HGSNAT - 8p11.21 [CytoView hg38]
Mapping of homologs : NCBIHGSNAT [Mapview hg19]  HGSNAT [Mapview hg38]
OMIM252930   610453   616544   
Gene and transcription
Genbank (Entrez)AK025895 AK057293 AK074839 AK304441 AK308922
RefSeq transcript (Entrez)NM_152419
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HGSNAT
Cluster EST : UnigeneHs.600384 [ NCBI ]
CGAP (NCI)Hs.600384
Alternative Splicing GalleryENSG00000165102
Gene ExpressionHGSNAT [ NCBI-GEO ]   HGSNAT [ EBI - ARRAY_EXPRESS ]   HGSNAT [ SEEK ]   HGSNAT [ MEM ]
Gene Expression Viewer (FireBrowse)HGSNAT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)138050
GTEX Portal (Tissue expression)HGSNAT
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ68CP4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ68CP4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ68CP4
Splice isoforms : SwissVarQ68CP4
Catalytic activity : Enzyme2.3.1.78 [ Enzyme-Expasy ]   2.3.1.782.3.1.78 [ IntEnz-EBI ]   2.3.1.78 [ BRENDA ]   2.3.1.78 [ KEGG ]   
PhosPhoSitePlusQ68CP4
Domains : Interpro (EBI)DUF1624   
Domain families : Pfam (Sanger)DUF1624 (PF07786)   
Domain families : Pfam (NCBI)pfam07786   
Conserved Domain (NCBI)HGSNAT
DMDM Disease mutations138050
Blocks (Seattle)HGSNAT
SuperfamilyQ68CP4
Human Protein AtlasENSG00000165102
Peptide AtlasQ68CP4
IPIIPI00739149   IPI00908672   IPI00402501   IPI00217139   IPI00386573   IPI00973927   IPI00974280   IPI00975914   
Protein Interaction databases
DIP (DOE-UCLA)Q68CP4
IntAct (EBI)Q68CP4
FunCoupENSG00000165102
BioGRIDHGSNAT
STRING (EMBL)HGSNAT
ZODIACHGSNAT
Ontologies - Pathways
QuickGOQ68CP4
Ontology : AmiGOlysosome  lysosomal membrane  lysosomal membrane  plasma membrane  glycosaminoglycan catabolic process  lysosomal transport  heparan-alpha-glucosaminide N-acetyltransferase activity  integral component of membrane  transferase activity, transferring acyl groups  specific granule membrane  neutrophil degranulation  protein oligomerization  tertiary granule membrane  
Ontology : EGO-EBIlysosome  lysosomal membrane  lysosomal membrane  plasma membrane  glycosaminoglycan catabolic process  lysosomal transport  heparan-alpha-glucosaminide N-acetyltransferase activity  integral component of membrane  transferase activity, transferring acyl groups  specific granule membrane  neutrophil degranulation  protein oligomerization  tertiary granule membrane  
Pathways : KEGGGlycosaminoglycan degradation    Lysosome   
NDEx NetworkHGSNAT
Atlas of Cancer Signalling NetworkHGSNAT
Wikipedia pathwaysHGSNAT
Orthology - Evolution
OrthoDB138050
GeneTree (enSembl)ENSG00000165102
Phylogenetic Trees/Animal Genes : TreeFamHGSNAT
HOVERGENQ68CP4
HOGENOMQ68CP4
Homologs : HomoloGeneHGSNAT
Homology/Alignments : Family Browser (UCSC)HGSNAT
Gene fusions - Rearrangements
Fusion : MitelmanHGSNAT/AGPAT6 [8p11.21/]  
Fusion : MitelmanHGSNAT/MBOAT1 [8p11.21/6p22.3]  [t(6;8)(p22;p11)]  
Fusion : MitelmanHGSNAT/VSTM2B [8p11.21/19q12]  [t(8;19)(p11;q12)]  
Fusion : MitelmanTYW1/HGSNAT [7q11.21/8p11.21]  [t(7;8)(q11;p11)]  
Fusion: TCGAHGSNAT 8p11.21 AGPAT6 LUSC
Fusion: TCGAHGSNAT 8p11.21 MBOAT1 6p22.3 BRCA
Fusion: TCGAHGSNAT 8p11.21 VSTM2B 19q12 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHGSNAT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HGSNAT
dbVarHGSNAT
ClinVarHGSNAT
1000_GenomesHGSNAT 
Exome Variant ServerHGSNAT
ExAC (Exome Aggregation Consortium)HGSNAT (select the gene name)
Genetic variants : HAPMAP138050
Genomic Variants (DGV)HGSNAT [DGVbeta]
DECIPHERHGSNAT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHGSNAT 
Mutations
ICGC Data PortalHGSNAT 
TCGA Data PortalHGSNAT 
Broad Tumor PortalHGSNAT
OASIS PortalHGSNAT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHGSNAT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHGSNAT
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch HGSNAT
DgiDB (Drug Gene Interaction Database)HGSNAT
DoCM (Curated mutations)HGSNAT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HGSNAT (select a term)
intoGenHGSNAT
Cancer3DHGSNAT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252930    610453    616544   
Orphanet659    11297   
MedgenHGSNAT
Genetic Testing Registry HGSNAT
NextProtQ68CP4 [Medical]
TSGene138050
GENETestsHGSNAT
Target ValidationHGSNAT
Huge Navigator HGSNAT [HugePedia]
snp3D : Map Gene to Disease138050
BioCentury BCIQHGSNAT
ClinGenHGSNAT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD138050
Chemical/Pharm GKB GenePA162390851
Clinical trialHGSNAT
Miscellaneous
canSAR (ICR)HGSNAT (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHGSNAT
EVEXHGSNAT
GoPubMedHGSNAT
iHOPHGSNAT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:11:25 CEST 2017

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