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B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)

Identity

Alias_namesGM2 synthase
GALGT
SPG26
Alias_symbol (synonym)beta1-4GalNAc-T
Other aliasGALNACT
GalNAc-T
HGNC (Hugo) B4GALNT1
LocusID (NCBI) 2583
Atlas_Id 47557
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 58019678 and ends at 58026464 bp from pter ( according to hg19-Feb_2009)

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)B4GALNT1   4117
Cards
Entrez_Gene (NCBI)B4GALNT1  2583  beta-1,4-N-acetyl-galactosaminyltransferase 1
AliasesGALGT; GALNACT; GalNAc-T; SPG26
GeneCards (Weizmann)B4GALNT1
Ensembl hg19 (Hinxton)ENSG00000135454 [Gene_View]  chr12:58019678-58026464 [Contig_View]  B4GALNT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000135454 [Gene_View]  chr12:58019678-58026464 [Contig_View]  B4GALNT1 [Vega]
ICGC DataPortalENSG00000135454
TCGA cBioPortalB4GALNT1
AceView (NCBI)B4GALNT1
Genatlas (Paris)B4GALNT1
WikiGenes2583
SOURCE (Princeton)B4GALNT1
Genetics Home Reference (NIH)B4GALNT1
Genomic and cartography
GoldenPath hg19 (UCSC)B4GALNT1  -     chr12:58019678-58026464 -  12q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)B4GALNT1  -     12q13.3   [Description]    (hg38-Dec_2013)
EnsemblB4GALNT1 - 12q13.3 [CytoView hg19]  B4GALNT1 - 12q13.3 [CytoView hg38]
Mapping of homologs : NCBIB4GALNT1 [Mapview hg19]  B4GALNT1 [Mapview hg38]
OMIM601873   
Gene and transcription
Genbank (Entrez)AB209460 AK127448 AK289690 AK293432 AK299845
RefSeq transcript (Entrez)NM_001276468 NM_001276469 NM_001478
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_033849 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)B4GALNT1
Cluster EST : UnigeneHs.159481 [ NCBI ]
CGAP (NCI)Hs.159481
Alternative Splicing GalleryENSG00000135454
Gene ExpressionB4GALNT1 [ NCBI-GEO ]   B4GALNT1 [ EBI - ARRAY_EXPRESS ]   B4GALNT1 [ SEEK ]   B4GALNT1 [ MEM ]
Gene Expression Viewer (FireBrowse)B4GALNT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2583
GTEX Portal (Tissue expression)B4GALNT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00973   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ00973  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ00973
Splice isoforms : SwissVarQ00973
Catalytic activity : Enzyme2.4.1.92 [ Enzyme-Expasy ]   2.4.1.922.4.1.92 [ IntEnz-EBI ]   2.4.1.92 [ BRENDA ]   2.4.1.92 [ KEGG ]   
PhosPhoSitePlusQ00973
Domains : Interpro (EBI)Glyco_trans_2-like    GM2_synthase    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glycos_transf_2 (PF00535)   
Domain families : Pfam (NCBI)pfam00535   
Conserved Domain (NCBI)B4GALNT1
DMDM Disease mutations2583
Blocks (Seattle)B4GALNT1
SuperfamilyQ00973
Human Protein AtlasENSG00000135454
Peptide AtlasQ00973
HPRD03525
IPIIPI00025473   IPI00909442   IPI00556373   IPI01012237   IPI01022511   IPI01022096   IPI01025679   IPI01023003   IPI00746768   IPI01022672   IPI01022830   
Protein Interaction databases
DIP (DOE-UCLA)Q00973
IntAct (EBI)Q00973
FunCoupENSG00000135454
BioGRIDB4GALNT1
STRING (EMBL)B4GALNT1
ZODIACB4GALNT1
Ontologies - Pathways
QuickGOQ00973
Ontology : AmiGOganglioside biosynthetic process  (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity  plasma membrane  carbohydrate metabolic process  protein glycosylation  glycosphingolipid metabolic process  spermatogenesis  membrane  lipid storage  integral component of Golgi membrane  lipid glycosylation  
Ontology : EGO-EBIganglioside biosynthetic process  (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity  plasma membrane  carbohydrate metabolic process  protein glycosylation  glycosphingolipid metabolic process  spermatogenesis  membrane  lipid storage  integral component of Golgi membrane  lipid glycosylation  
Pathways : KEGGGlycosphingolipid biosynthesis - ganglio series   
NDEx NetworkB4GALNT1
Atlas of Cancer Signalling NetworkB4GALNT1
Wikipedia pathwaysB4GALNT1
Orthology - Evolution
OrthoDB2583
GeneTree (enSembl)ENSG00000135454
Phylogenetic Trees/Animal Genes : TreeFamB4GALNT1
HOVERGENQ00973
HOGENOMQ00973
Homologs : HomoloGeneB4GALNT1
Homology/Alignments : Family Browser (UCSC)B4GALNT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB4GALNT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B4GALNT1
dbVarB4GALNT1
ClinVarB4GALNT1
1000_GenomesB4GALNT1 
Exome Variant ServerB4GALNT1
ExAC (Exome Aggregation Consortium)B4GALNT1 (select the gene name)
Genetic variants : HAPMAP2583
Genomic Variants (DGV)B4GALNT1 [DGVbeta]
DECIPHER (Syndromes)12:58019678-58026464  ENSG00000135454
CONAN: Copy Number AnalysisB4GALNT1 
Mutations
ICGC Data PortalB4GALNT1 
TCGA Data PortalB4GALNT1 
Broad Tumor PortalB4GALNT1
OASIS PortalB4GALNT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB4GALNT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB4GALNT1
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 B4GALNT1
DgiDB (Drug Gene Interaction Database)B4GALNT1
DoCM (Curated mutations)B4GALNT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B4GALNT1 (select a term)
intoGenB4GALNT1
Cancer3DB4GALNT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601873   
Orphanet14717   
MedgenB4GALNT1
Genetic Testing Registry B4GALNT1
NextProtQ00973 [Medical]
TSGene2583
GENETestsB4GALNT1
Huge Navigator B4GALNT1 [HugePedia]
snp3D : Map Gene to Disease2583
BioCentury BCIQB4GALNT1
ClinGenB4GALNT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2583
Chemical/Pharm GKB GenePA28532
Clinical trialB4GALNT1
Miscellaneous
canSAR (ICR)B4GALNT1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB4GALNT1
EVEXB4GALNT1
GoPubMedB4GALNT1
iHOPB4GALNT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:53:39 CEST 2017

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