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HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)

Identity

Alias (NCBI)HGNAT
MPS3C
RP73
TMEM76
HGNC (Hugo) HGSNAT
HGNC Alias symbFLJ32731
HGNAT
HGNC Previous nameTMEM76
HGNC Previous nametransmembrane protein 76
LocusID (NCBI) 138050
Atlas_Id 54360
Location 8p11.21  [Link to chromosome band 8p11]
Location_base_pair Starts at 43140464 and ends at 43202854 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    heparan-alpha-glucosaminide N-acetyltransferase
AliasesHGNAT; MPS3C; RP73; TMEM76
GeneCards (Weizmann)HGSNAT
Ensembl hg19 (Hinxton)ENSG00000165102 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165102 [Gene_View]  ENSG00000165102 [Sequence]  chr8:43140464-43202854 [Contig_View]  HGSNAT [Vega]
ICGC DataPortalENSG00000165102
TCGA cBioPortalHGSNAT
AceView (NCBI)HGSNAT
Genatlas (Paris)HGSNAT
SOURCE (Princeton)HGSNAT
Genetics Home Reference (NIH)HGSNAT
Genomic and cartography
GoldenPath hg38 (UCSC)HGSNAT  -     chr8:43140464-43202854 +  8p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HGSNAT  -     8p11.21   [Description]    (hg19-Feb_2009)
GoldenPathHGSNAT - 8p11.21 [CytoView hg19]  HGSNAT - 8p11.21 [CytoView hg38]
ImmunoBaseENSG00000165102
Genome Data Viewer NCBIHGSNAT [Mapview hg19]  
OMIM252930   610453   616544   
Gene and transcription
Genbank (Entrez)AK025895 AK057293 AK074839 AK304441 AK308922
RefSeq transcript (Entrez)NM_001363227 NM_001363228 NM_001363229 NM_152419
Consensus coding sequences : CCDS (NCBI)HGSNAT
Gene ExpressionHGSNAT [ NCBI-GEO ]   HGSNAT [ EBI - ARRAY_EXPRESS ]   HGSNAT [ SEEK ]   HGSNAT [ MEM ]
Gene Expression Viewer (FireBrowse)HGSNAT [ Firebrowse - Broad ]
GenevisibleExpression of HGSNAT in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)138050
GTEX Portal (Tissue expression)HGSNAT
Human Protein AtlasENSG00000165102-HGSNAT [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
PhosPhoSitePlusQ68CP4
Domains : Interpro (EBI)HGSNAT    HGSNAT_cat   
Domain families : Pfam (Sanger)DUF1624 (PF07786)   
Domain families : Pfam (NCBI)pfam07786   
Conserved Domain (NCBI)HGSNAT
SuperfamilyQ68CP4
AlphaFold pdb e-kbQ68CP4   
Human Protein Atlas [tissue]ENSG00000165102-HGSNAT [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q68CP4
IntAct (EBI)Q68CP4
BioGRIDHGSNAT
STRING (EMBL)HGSNAT
ZODIACHGSNAT
Ontologies - Pathways
QuickGOQ68CP4
Ontology : AmiGOlysosomal membrane  lysosomal membrane  lysosomal membrane  lysosomal membrane  plasma membrane  glycosaminoglycan catabolic process  lysosomal transport  lysosomal transport  heparan-alpha-glucosaminide N-acetyltransferase activity  integral component of membrane  acyltransferase activity  specific granule membrane  neutrophil degranulation  protein complex oligomerization  tertiary granule membrane  
Ontology : EGO-EBIlysosomal membrane  lysosomal membrane  lysosomal membrane  lysosomal membrane  plasma membrane  glycosaminoglycan catabolic process  lysosomal transport  lysosomal transport  heparan-alpha-glucosaminide N-acetyltransferase activity  integral component of membrane  acyltransferase activity  specific granule membrane  neutrophil degranulation  protein complex 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
Homologs : HomoloGeneHGSNAT
Homology/Alignments : Family Browser (UCSC)HGSNAT
Gene fusions - Rearrangements
Fusion : MitelmanHGSNAT/AGPAT6 [8p11.21/]  
Fusion : MitelmanHGSNAT/MBOAT1 [8p11.21/6p22.3]  
Fusion : MitelmanHGSNAT/VSTM2B [8p11.21/19q12]  
Fusion : MitelmanTYW1/HGSNAT [7q11.21/8p11.21]  
Fusion : QuiverHGSNAT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHGSNAT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HGSNAT
dbVarHGSNAT
ClinVarHGSNAT
MonarchHGSNAT
1000_GenomesHGSNAT 
Exome Variant ServerHGSNAT
GNOMAD BrowserENSG00000165102
Varsome BrowserHGSNAT
ACMGHGSNAT variants
VarityQ68CP4
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]  
Somatic Mutations in Cancer : COSMIC3DHGSNAT
Mutations and Diseases : HGMDHGSNAT
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHGSNAT
DgiDB (Drug Gene Interaction Database)HGSNAT
DoCM (Curated mutations)HGSNAT
CIViC (Clinical Interpretations of Variants in Cancer)HGSNAT
Cancer3DHGSNAT
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252930    610453    616544   
Orphanet659    11297   
DisGeNETHGSNAT
MedgenHGSNAT
Genetic Testing Registry HGSNAT
NextProtQ68CP4 [Medical]
GENETestsHGSNAT
Target ValidationHGSNAT
Huge Navigator HGSNAT [HugePedia]
ClinGenHGSNAT
Clinical trials, drugs, therapy
MyCancerGenomeHGSNAT
Protein Interactions : CTDHGSNAT
Pharm GKB GenePA162390851
PharosQ68CP4
Clinical trialHGSNAT
Miscellaneous
canSAR (ICR)HGSNAT
HarmonizomeHGSNAT
DataMed IndexHGSNAT
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHGSNAT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:12:21 CEST 2021

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