Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Alias (NCBI)GALGT
GALNACT
GalNAc-T
SPG26
HGNC (Hugo) B4GALNT1
HGNC Alias symbbeta1-4GalNAc-T
HGNC Alias nameGD2 synthase, GM2 synthase
HGNC Previous nameGALGT
 SPG26
HGNC Previous nameUDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)
 UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1
 spastic paraplegia 26
LocusID (NCBI) 2583
Atlas_Id 47557
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 57623409 and ends at 57633201 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)

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]
Ensembl hg38 (Hinxton)ENSG00000135454 [Gene_View]  ENSG00000135454 [Sequence]  chr12:57623409-57633201 [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 hg38 (UCSC)B4GALNT1  -     chr12:57623409-57633201 -  12q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B4GALNT1  -     12q13.3   [Description]    (hg19-Feb_2009)
GoldenPathB4GALNT1 - 12q13.3 [CytoView hg19]  B4GALNT1 - 12q13.3 [CytoView hg38]
ImmunoBaseENSG00000135454
genome Data Viewer NCBIB4GALNT1 [Mapview hg19]  
OMIM601873   609195   
Gene and transcription
Genbank (Entrez)AB209460 AK127448 AK289690 AK293432 AK299845
RefSeq transcript (Entrez)NM_001276468 NM_001276469 NM_001478
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)B4GALNT1
Alternative Splicing GalleryENSG00000135454
Gene ExpressionB4GALNT1 [ NCBI-GEO ]   B4GALNT1 [ EBI - ARRAY_EXPRESS ]   B4GALNT1 [ SEEK ]   B4GALNT1 [ MEM ]
Gene Expression Viewer (FireBrowse)B4GALNT1 [ Firebrowse - Broad ]
GenevisibleExpression of B4GALNT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2583
GTEX Portal (Tissue expression)B4GALNT1
Human Protein AtlasENSG00000135454-B4GALNT1 [pathology]   [cell]   [tissue]
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
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 Atlas [tissue]ENSG00000135454-B4GALNT1 [tissue]
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 : AmiGOGolgi membrane  Golgi membrane  ganglioside biosynthetic process  ganglioside biosynthetic process  ganglioside biosynthetic process  (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity  (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity  Golgi apparatus  plasma membrane  carbohydrate metabolic process  glycosphingolipid metabolic process  spermatogenesis  acetylgalactosaminyltransferase activity  membrane  lipid storage  integral component of Golgi membrane  lipid glycosylation  
Ontology : EGO-EBIGolgi membrane  Golgi membrane  ganglioside biosynthetic process  ganglioside biosynthetic process  ganglioside biosynthetic process  (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity  (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity  Golgi apparatus  plasma membrane  carbohydrate metabolic process  glycosphingolipid metabolic process  spermatogenesis  acetylgalactosaminyltransferase activity  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
HOGENOMQ00973
Homologs : HomoloGeneB4GALNT1
Homology/Alignments : Family Browser (UCSC)B4GALNT1
Gene fusions - Rearrangements
Fusion : QuiverB4GALNT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB4GALNT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B4GALNT1
dbVarB4GALNT1
ClinVarB4GALNT1
1000_GenomesB4GALNT1 
Exome Variant ServerB4GALNT1
GNOMAD BrowserENSG00000135454
Varsome BrowserB4GALNT1
Genetic variants : HAPMAP2583
Genomic Variants (DGV)B4GALNT1 [DGVbeta]
DECIPHERB4GALNT1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DB4GALNT1
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601873    609195   
Orphanet14717   
DisGeNETB4GALNT1
MedgenB4GALNT1
Genetic Testing Registry B4GALNT1
NextProtQ00973 [Medical]
TSGene2583
GENETestsB4GALNT1
Target ValidationB4GALNT1
Huge Navigator B4GALNT1 [HugePedia]
snp3D : Map Gene to Disease2583
BioCentury BCIQB4GALNT1
ClinGenB4GALNT1
Clinical trials, drugs, therapy
Protein Interactions : CTD2583
Pharm GKB GenePA28532
Clinical trialB4GALNT1
Miscellaneous
canSAR (ICR)B4GALNT1 (select the gene name)
HarmonizomeB4GALNT1
DataMed IndexB4GALNT1
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB4GALNT1
EVEXB4GALNT1
GoPubMedB4GALNT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jul 16 15:04:32 CEST 2020

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