| Nomenclature |
HGNC (Hugo) | POMGNT1 19139 |
LRG (Locus Reference Genomic) | LRG_701 |
| Cards |
Entrez_Gene (NCBI) | POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Aliases | GNTI.2; GnT; LGMD2O; LGMDR15; |
| MEB; MGAT1.2; RP76; gnT-I.2 |
GeneCards (Weizmann) | POMGNT1 |
Ensembl hg19 (Hinxton) | ENSG00000085998 [Gene_View] |
Ensembl hg38 (Hinxton) | ENSG00000085998 [Gene_View]  ENSG00000085998 [Sequence] chr1:46188681-46198449 [Contig_View] POMGNT1 [Vega] |
ICGC DataPortal | ENSG00000085998 |
TCGA cBioPortal | POMGNT1 |
AceView (NCBI) | POMGNT1 |
Genatlas (Paris) | POMGNT1 |
WikiGenes | 55624 |
SOURCE (Princeton) | POMGNT1 |
Genetics Home Reference (NIH) | POMGNT1 |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | POMGNT1 - chr1:46188681-46198449 - 1p34.1 [Description] (hg38-Dec_2013) |
GoldenPath hg19 (UCSC) | POMGNT1 - 1p34.1 [Description] (hg19-Feb_2009) |
GoldenPath | POMGNT1 - 1p34.1 [CytoView hg19] POMGNT1 - 1p34.1 [CytoView hg38] |
ImmunoBase | ENSG00000085998 |
Mapping of homologs : NCBI | POMGNT1 [Mapview hg19] POMGNT1 [Mapview hg38] |
OMIM | 253280 606822 613151 613157 617123 |
| Gene and transcription |
Genbank (Entrez) | AA918249 AB057356 AF250859 AK000284 AK022727 |
RefSeq transcript (Entrez) | NM_001243766 NM_001290129 NM_001290130 NM_017739 |
RefSeq genomic (Entrez) | |
Consensus coding sequences : CCDS (NCBI) | POMGNT1 |
Cluster EST : Unigene | Hs.525134 [ NCBI ] |
CGAP (NCI) | Hs.525134 |
Alternative Splicing Gallery | ENSG00000085998 |
Gene Expression | POMGNT1 [ NCBI-GEO ] POMGNT1 [ EBI - ARRAY_EXPRESS ]
POMGNT1 [ SEEK ] POMGNT1 [ MEM ] |
Gene Expression Viewer (FireBrowse) | POMGNT1 [ Firebrowse - Broad ] |
SOURCE (Princeton) | Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60] |
Genevestigator | Expression in : [tissues]  [cell-lines]  [cancer]  [perturbations]   |
BioGPS (Tissue expression) | 55624 |
GTEX Portal (Tissue expression) | POMGNT1 |
Human Protein Atlas | ENSG00000085998-POMGNT1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
UniProt/SwissProt | Q8WZA1 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
NextProt | Q8WZA1 [Sequence] [Exons] [Medical] [Publications] |
With graphics : InterPro | Q8WZA1 |
Splice isoforms : SwissVar | Q8WZA1 |
Catalytic activity : Enzyme | 2.4.1.- [ Enzyme-Expasy ] 2.4.1.-2.4.1.- [ IntEnz-EBI ] 2.4.1.- [ BRENDA ] 2.4.1.- [ KEGG ] |
PhosPhoSitePlus | Q8WZA1 |
Domains : Interpro (EBI) | Glyco_trans_13 Nucleotide-diphossugar_trans |
Domain families : Pfam (Sanger) | GNT-I (PF03071) |
Domain families : Pfam (NCBI) | pfam03071 |
Conserved Domain (NCBI) | POMGNT1 |
DMDM Disease mutations | 55624 |
Blocks (Seattle) | POMGNT1 |
PDB (RSDB) | 5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC |
PDB Europe | 5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC |
PDB (PDBSum) | 5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC |
PDB (IMB) | 5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC |
Structural Biology KnowledgeBase | 5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC |
SCOP (Structural Classification of Proteins) | 5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC |
CATH (Classification of proteins structures) | 5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC |
Superfamily | Q8WZA1 |
Human Protein Atlas [tissue] | ENSG00000085998-POMGNT1 [tissue] |
Peptide Atlas | Q8WZA1 |
HPRD | 09493 |
IPI | IPI00550558 IPI01015102 IPI00470842 IPI00292567 |
| Protein Interaction databases |
DIP (DOE-UCLA) | Q8WZA1 |
IntAct (EBI) | Q8WZA1 |
FunCoup | ENSG00000085998 |
BioGRID | POMGNT1 |
STRING (EMBL) | POMGNT1 |
ZODIAC | POMGNT1 |
| Ontologies - Pathways |
QuickGO | Q8WZA1 |
Ontology : AmiGO | Golgi membrane protein binding protein O-linked glycosylation protein O-linked glycosylation protein O-linked glycosylation protein O-linked glycosylation acetylglucosaminyltransferase activity acetylglucosaminyltransferase activity integral component of membrane integral component of membrane O-glycan processing O-glycan processing manganese ion binding integral component of Golgi membrane integral component of Golgi membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity |
Ontology : EGO-EBI | Golgi membrane protein binding protein O-linked glycosylation protein O-linked glycosylation protein O-linked glycosylation protein O-linked glycosylation acetylglucosaminyltransferase activity acetylglucosaminyltransferase activity integral component of membrane integral component of membrane O-glycan processing O-glycan processing manganese ion binding integral component of Golgi membrane integral component of Golgi membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity |
Pathways : KEGG | Other types of O-glycan biosynthesis |
NDEx Network | POMGNT1 |
Atlas of Cancer Signalling Network | POMGNT1 |
Wikipedia pathways | POMGNT1 |
| Orthology - Evolution |
OrthoDB | 55624 |
GeneTree (enSembl) | ENSG00000085998 |
Phylogenetic Trees/Animal Genes : TreeFam | POMGNT1 |
HOGENOM | Q8WZA1 |
Homologs : HomoloGene | POMGNT1 |
Homology/Alignments : Family Browser (UCSC) | POMGNT1 |
| Gene fusions - Rearrangements |
Fusion : Quiver | POMGNT1 |
| Polymorphisms : SNP and Copy number variants |
NCBI Variation Viewer | POMGNT1 [hg38] |
dbSNP Single Nucleotide Polymorphism (NCBI) | POMGNT1 |
dbVar | POMGNT1 |
ClinVar | POMGNT1 |
1000_Genomes | POMGNT1 |
Exome Variant Server | POMGNT1 |
ExAC (Exome Aggregation Consortium) | ENSG00000085998 |
GNOMAD Browser | ENSG00000085998 |
Varsome Browser | POMGNT1 |
Genetic variants : HAPMAP | 55624 |
Genomic Variants (DGV) | POMGNT1 [DGVbeta] |
DECIPHER | POMGNT1 [patients] [syndromes] [variants] [genes] |
CONAN: Copy Number Analysis | POMGNT1 |
| Mutations |
ICGC Data Portal | POMGNT1 |
TCGA Data Portal | POMGNT1 |
Broad Tumor Portal | POMGNT1 |
OASIS Portal | POMGNT1 [ Somatic mutations - Copy number] |
Somatic Mutations in Cancer : COSMIC | POMGNT1 [overview] [genome browser] [tissue] [distribution] |
Somatic Mutations in Cancer : COSMIC3D | POMGNT1 |
Mutations and Diseases : HGMD | POMGNT1 |
LOVD (Leiden Open Variation Database) | Whole genome datasets |
LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
LOVD (Leiden Open Variation Database) | Leiden Muscular Dystrophy pages |
LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
BioMuta | search POMGNT1 |
DgiDB (Drug Gene Interaction Database) | POMGNT1 |
DoCM (Curated mutations) | POMGNT1 (select the gene name) |
CIViC (Clinical Interpretations of Variants in Cancer) | POMGNT1 (select a term) |
intoGen | POMGNT1 |
Cancer3D | POMGNT1(select the gene name) |
Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
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OMIM | 253280 606822 613151 613157 617123 |
Orphanet | 659 18523 22509 8726 8725 |
DisGeNET | POMGNT1 |
Medgen | POMGNT1 |
Genetic Testing Registry | POMGNT1
|
NextProt | Q8WZA1 [Medical] |
TSGene | 55624 |
GENETests | POMGNT1 |
Target Validation | POMGNT1 |
Huge Navigator |
POMGNT1 [HugePedia] |
snp3D : Map Gene to Disease | 55624 |
BioCentury BCIQ | POMGNT1 |
ClinGen | POMGNT1 |
| Clinical trials, drugs, therapy |
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Chemical/Protein Interactions : CTD | 55624 |
Chemical/Pharm GKB Gene | PA142671161 |
Clinical trial | POMGNT1 |
| Miscellaneous |
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canSAR (ICR) | POMGNT1 (select the gene name) |
DataMed Index | POMGNT1 |
| Probes |
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| Litterature |
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PubMed | 51 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
CoreMine | POMGNT1 |
EVEX | POMGNT1 |
GoPubMed | POMGNT1 |
iHOP | POMGNT1 |