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CSGALNACT1 (chondroitin sulfate N-acetylgalactosaminyltransferase 1)

Identity

Alias_symbol (synonym)CSGalNAcT-1
FLJ11264
ChGn
Other aliasbeta4GalNAcT
HGNC (Hugo) CSGALNACT1
LocusID (NCBI) 55790
Atlas_Id 54241
Location 8p21.3  [Link to chromosome band 8p21]
Location_base_pair Starts at 19404161 and ends at 19602545 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COPG2 (7q32.2) / CSGALNACT1 (8p21.3)CSGALNACT1 (8p21.3) / CSGALNACT1 (8p21.3)CSGALNACT1 (8p21.3) / LARGE (22q12.3)
CSGALNACT1 (8p21.3) / RNF144B (6p22.3)CSGALNACT1 (8p21.3) / TMEM150A (2p11.2)MSRA (8p23.1) / CSGALNACT1 (8p21.3)
PSD3 (8p22) / CSGALNACT1 (8p21.3)CSGALNACT1 8p21.3 / TMEM150A 2p11.2MSRA 8p23.1 / CSGALNACT1 8p21.3

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)CSGALNACT1   24290
Cards
Entrez_Gene (NCBI)CSGALNACT1  55790  chondroitin sulfate N-acetylgalactosaminyltransferase 1
AliasesCSGalNAcT-1; ChGn; beta4GalNAcT
GeneCards (Weizmann)CSGALNACT1
Ensembl hg19 (Hinxton)ENSG00000147408 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147408 [Gene_View]  chr8:19404161-19602545 [Contig_View]  CSGALNACT1 [Vega]
ICGC DataPortalENSG00000147408
TCGA cBioPortalCSGALNACT1
AceView (NCBI)CSGALNACT1
Genatlas (Paris)CSGALNACT1
WikiGenes55790
SOURCE (Princeton)CSGALNACT1
Genetics Home Reference (NIH)CSGALNACT1
Genomic and cartography
GoldenPath hg38 (UCSC)CSGALNACT1  -     chr8:19404161-19602545 -  8p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CSGALNACT1  -     8p21.3   [Description]    (hg19-Feb_2009)
EnsemblCSGALNACT1 - 8p21.3 [CytoView hg19]  CSGALNACT1 - 8p21.3 [CytoView hg38]
Mapping of homologs : NCBICSGALNACT1 [Mapview hg19]  CSGALNACT1 [Mapview hg38]
OMIM616615   
Gene and transcription
Genbank (Entrez)AB071403 AB081516 AK002124 AK002126 AK023822
RefSeq transcript (Entrez)NM_001130518 NM_018371
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CSGALNACT1
Cluster EST : UnigeneHs.721954 [ NCBI ]
CGAP (NCI)Hs.721954
Alternative Splicing GalleryENSG00000147408
Gene ExpressionCSGALNACT1 [ NCBI-GEO ]   CSGALNACT1 [ EBI - ARRAY_EXPRESS ]   CSGALNACT1 [ SEEK ]   CSGALNACT1 [ MEM ]
Gene Expression Viewer (FireBrowse)CSGALNACT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55790
GTEX Portal (Tissue expression)CSGALNACT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDX6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDX6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDX6
Splice isoforms : SwissVarQ8TDX6
Catalytic activity : Enzyme2.4.1.174 [ Enzyme-Expasy ]   2.4.1.1742.4.1.174 [ IntEnz-EBI ]   2.4.1.174 [ BRENDA ]   2.4.1.174 [ KEGG ]   
PhosPhoSitePlusQ8TDX6
Domains : Interpro (EBI)Chond_GalNAc    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)CHGN (PF05679)   
Domain families : Pfam (NCBI)pfam05679   
Conserved Domain (NCBI)CSGALNACT1
DMDM Disease mutations55790
Blocks (Seattle)CSGALNACT1
SuperfamilyQ8TDX6
Human Protein AtlasENSG00000147408
Peptide AtlasQ8TDX6
HPRD13114
IPIIPI00216738   IPI00171386   IPI00550004   IPI00985345   IPI00980562   IPI00982875   IPI00982051   IPI00981464   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDX6
IntAct (EBI)Q8TDX6
FunCoupENSG00000147408
BioGRIDCSGALNACT1
STRING (EMBL)CSGALNACT1
ZODIACCSGALNACT1
Ontologies - Pathways
QuickGOQ8TDX6
Ontology : AmiGOGolgi membrane  endochondral ossification  intracellular  nervous system development  cell recognition  cell proliferation  acetylgalactosaminyltransferase activity  acetylgalactosaminyltransferase activity  peptidoglycan glycosyltransferase activity  anatomical structure morphogenesis  heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process  glucuronosyltransferase activity  UDP-N-acetylgalactosamine metabolic process  proteoglycan biosynthetic process  integral component of Golgi membrane  extracellular matrix organization  chondroitin sulfate biosynthetic process  chondroitin sulfate biosynthetic process  heparin biosynthetic process  Golgi cisterna membrane  UDP-glucuronate metabolic process  metal ion binding  glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  chondroitin sulfate proteoglycan biosynthetic process  dermatan sulfate proteoglycan biosynthetic process  chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process  cartilage development  
Ontology : EGO-EBIGolgi membrane  endochondral ossification  intracellular  nervous system development  cell recognition  cell proliferation  acetylgalactosaminyltransferase activity  acetylgalactosaminyltransferase activity  peptidoglycan glycosyltransferase activity  anatomical structure morphogenesis  heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process  glucuronosyltransferase activity  UDP-N-acetylgalactosamine metabolic process  proteoglycan biosynthetic process  integral component of Golgi membrane  extracellular matrix organization  chondroitin sulfate biosynthetic process  chondroitin sulfate biosynthetic process  heparin biosynthetic process  Golgi cisterna membrane  UDP-glucuronate metabolic process  metal ion binding  glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity  chondroitin sulfate proteoglycan biosynthetic process  dermatan sulfate proteoglycan biosynthetic process  chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process  cartilage development  
Pathways : KEGGGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate   
NDEx NetworkCSGALNACT1
Atlas of Cancer Signalling NetworkCSGALNACT1
Wikipedia pathwaysCSGALNACT1
Orthology - Evolution
OrthoDB55790
GeneTree (enSembl)ENSG00000147408
Phylogenetic Trees/Animal Genes : TreeFamCSGALNACT1
HOVERGENQ8TDX6
HOGENOMQ8TDX6
Homologs : HomoloGeneCSGALNACT1
Homology/Alignments : Family Browser (UCSC)CSGALNACT1
Gene fusions - Rearrangements
Fusion : MitelmanCSGALNACT1/TMEM150A [8p21.3/2p11.2]  
Fusion : MitelmanMSRA/CSGALNACT1 [8p23.1/8p21.3]  [t(8;8)(p21;p23)]  
Fusion : MitelmanPSD3/CSGALNACT1 [8p22/8p21.3]  [t(8;8)(p21;p22)]  
Fusion: TCGACSGALNACT1 8p21.3 TMEM150A 2p11.2 PRAD
Fusion: TCGAMSRA 8p23.1 CSGALNACT1 8p21.3 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSGALNACT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSGALNACT1
dbVarCSGALNACT1
ClinVarCSGALNACT1
1000_GenomesCSGALNACT1 
Exome Variant ServerCSGALNACT1
ExAC (Exome Aggregation Consortium)CSGALNACT1 (select the gene name)
Genetic variants : HAPMAP55790
Genomic Variants (DGV)CSGALNACT1 [DGVbeta]
DECIPHERCSGALNACT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCSGALNACT1 
Mutations
ICGC Data PortalCSGALNACT1 
TCGA Data PortalCSGALNACT1 
Broad Tumor PortalCSGALNACT1
OASIS PortalCSGALNACT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSGALNACT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSGALNACT1
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 CSGALNACT1
DgiDB (Drug Gene Interaction Database)CSGALNACT1
DoCM (Curated mutations)CSGALNACT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSGALNACT1 (select a term)
intoGenCSGALNACT1
Cancer3DCSGALNACT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616615   
Orphanet
MedgenCSGALNACT1
Genetic Testing Registry CSGALNACT1
NextProtQ8TDX6 [Medical]
TSGene55790
GENETestsCSGALNACT1
Target ValidationCSGALNACT1
Huge Navigator CSGALNACT1 [HugePedia]
snp3D : Map Gene to Disease55790
BioCentury BCIQCSGALNACT1
ClinGenCSGALNACT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55790
Chemical/Pharm GKB GenePA162382829
Clinical trialCSGALNACT1
Miscellaneous
canSAR (ICR)CSGALNACT1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSGALNACT1
EVEXCSGALNACT1
GoPubMedCSGALNACT1
iHOPCSGALNACT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:58:43 CEST 2017

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