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GALNT1 (polypeptide N-acetylgalactosaminyltransferase 1)

Identity

Alias_namesUDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)
Alias_symbol (synonym)GalNAc-T1
Other aliasGALNAC-T1
HGNC (Hugo) GALNT1
LocusID (NCBI) 2589
Atlas_Id 51033
Location 18q12.2  [Link to chromosome band 18q12]
Location_base_pair Starts at 35654569 and ends at 35711834 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ELP2 (18q12.2) / GALNT1 (18q12.2)GALNT1 (18q12.2) / GALNT1 (18q12.2)GALNT1 (18q12.2) / NFX1 (9p13.3)
PCYT1B (Xp22.11) / GALNT1 (18q12.2)ZSCAN30 (18q12.2) / GALNT1 (18q12.2)ELP2 18q12.2 / GALNT1 18q12.2

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)GALNT1   4123
Cards
Entrez_Gene (NCBI)GALNT1  2589  polypeptide N-acetylgalactosaminyltransferase 1
AliasesGALNAC-T1
GeneCards (Weizmann)GALNT1
Ensembl hg19 (Hinxton)ENSG00000141429 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141429 [Gene_View]  chr18:35654569-35711834 [Contig_View]  GALNT1 [Vega]
ICGC DataPortalENSG00000141429
TCGA cBioPortalGALNT1
AceView (NCBI)GALNT1
Genatlas (Paris)GALNT1
WikiGenes2589
SOURCE (Princeton)GALNT1
Genetics Home Reference (NIH)GALNT1
Genomic and cartography
GoldenPath hg38 (UCSC)GALNT1  -     chr18:35654569-35711834 +  18q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GALNT1  -     18q12.2   [Description]    (hg19-Feb_2009)
EnsemblGALNT1 - 18q12.2 [CytoView hg19]  GALNT1 - 18q12.2 [CytoView hg38]
Mapping of homologs : NCBIGALNT1 [Mapview hg19]  GALNT1 [Mapview hg38]
OMIM602273   
Gene and transcription
Genbank (Entrez)AJ505952 AK293062 BC038440 BC047746 BM668856
RefSeq transcript (Entrez)NM_020474
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GALNT1
Cluster EST : UnigeneHs.514806 [ NCBI ]
CGAP (NCI)Hs.514806
Alternative Splicing GalleryENSG00000141429
Gene ExpressionGALNT1 [ NCBI-GEO ]   GALNT1 [ EBI - ARRAY_EXPRESS ]   GALNT1 [ SEEK ]   GALNT1 [ MEM ]
Gene Expression Viewer (FireBrowse)GALNT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2589
GTEX Portal (Tissue expression)GALNT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ10472   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ10472  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ10472
Splice isoforms : SwissVarQ10472
Catalytic activity : Enzyme2.4.1.41 [ Enzyme-Expasy ]   2.4.1.412.4.1.41 [ IntEnz-EBI ]   2.4.1.41 [ BRENDA ]   2.4.1.41 [ KEGG ]   
PhosPhoSitePlusQ10472
Domaine pattern : Prosite (Expaxy)RICIN_B_LECTIN (PS50231)   
Domains : Interpro (EBI)Glyco_trans_2-like    Nucleotide-diphossugar_trans    Ricin_B_lectin   
Domain families : Pfam (Sanger)Glycos_transf_2 (PF00535)    Ricin_B_lectin (PF00652)   
Domain families : Pfam (NCBI)pfam00535    pfam00652   
Domain families : Smart (EMBL)RICIN (SM00458)  
Conserved Domain (NCBI)GALNT1
DMDM Disease mutations2589
Blocks (Seattle)GALNT1
SuperfamilyQ10472
Human Protein AtlasENSG00000141429
Peptide AtlasQ10472
HPRD03781
IPIIPI00025818   IPI00456057   IPI01013655   
Protein Interaction databases
DIP (DOE-UCLA)Q10472
IntAct (EBI)Q10472
FunCoupENSG00000141429
BioGRIDGALNT1
STRING (EMBL)GALNT1
ZODIACGALNT1
Ontologies - Pathways
QuickGOQ10472
Ontology : AmiGOGolgi membrane  polypeptide N-acetylgalactosaminyltransferase activity  polypeptide N-acetylgalactosaminyltransferase activity  extracellular region  endoplasmic reticulum membrane  Golgi apparatus  protein O-linked glycosylation  membrane  integral component of membrane  O-glycan processing  protein O-linked glycosylation via serine  protein O-linked glycosylation via threonine  manganese ion binding  carbohydrate binding  Golgi cisterna membrane  perinuclear region of cytoplasm  
Ontology : EGO-EBIGolgi membrane  polypeptide N-acetylgalactosaminyltransferase activity  polypeptide N-acetylgalactosaminyltransferase activity  extracellular region  endoplasmic reticulum membrane  Golgi apparatus  protein O-linked glycosylation  membrane  integral component of membrane  O-glycan processing  protein O-linked glycosylation via serine  protein O-linked glycosylation via threonine  manganese ion binding  carbohydrate binding  Golgi cisterna membrane  perinuclear region of cytoplasm  
Pathways : KEGGMucin type O-Glycan biosynthesis   
NDEx NetworkGALNT1
Atlas of Cancer Signalling NetworkGALNT1
Wikipedia pathwaysGALNT1
Orthology - Evolution
OrthoDB2589
GeneTree (enSembl)ENSG00000141429
Phylogenetic Trees/Animal Genes : TreeFamGALNT1
HOVERGENQ10472
HOGENOMQ10472
Homologs : HomoloGeneGALNT1
Homology/Alignments : Family Browser (UCSC)GALNT1
Gene fusions - Rearrangements
Fusion : MitelmanELP2/GALNT1 [18q12.2/18q12.2]  [t(18;18)(q12;q12)]  
Fusion: TCGAELP2 18q12.2 GALNT1 18q12.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGALNT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GALNT1
dbVarGALNT1
ClinVarGALNT1
1000_GenomesGALNT1 
Exome Variant ServerGALNT1
ExAC (Exome Aggregation Consortium)GALNT1 (select the gene name)
Genetic variants : HAPMAP2589
Genomic Variants (DGV)GALNT1 [DGVbeta]
DECIPHERGALNT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGALNT1 
Mutations
ICGC Data PortalGALNT1 
TCGA Data PortalGALNT1 
Broad Tumor PortalGALNT1
OASIS PortalGALNT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGALNT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGALNT1
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 GALNT1
DgiDB (Drug Gene Interaction Database)GALNT1
DoCM (Curated mutations)GALNT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GALNT1 (select a term)
intoGenGALNT1
Cancer3DGALNT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602273   
Orphanet
MedgenGALNT1
Genetic Testing Registry GALNT1
NextProtQ10472 [Medical]
TSGene2589
GENETestsGALNT1
Target ValidationGALNT1
Huge Navigator GALNT1 [HugePedia]
snp3D : Map Gene to Disease2589
BioCentury BCIQGALNT1
ClinGenGALNT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2589
Chemical/Pharm GKB GenePA28536
Clinical trialGALNT1
Miscellaneous
canSAR (ICR)GALNT1 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGALNT1
EVEXGALNT1
GoPubMedGALNT1
iHOPGALNT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:34:48 CEST 2017

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