| 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 |
| genome Data Viewer NCBI | POMGNT1 [Mapview hg19] |
| 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 |
| Alternative Splicing Gallery | ENSG00000085998 |
| Gene Expression | POMGNT1 [ NCBI-GEO ] POMGNT1 [ EBI - ARRAY_EXPRESS ]
POMGNT1 [ SEEK ] POMGNT1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | POMGNT1 [ Firebrowse - Broad ] |
| Genevisible | Expression of POMGNT1 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 |
| PhosPhoSitePlus | Q8WZA1 |
| Domains : Interpro (EBI) | Glyco_trans_13 ILEI/PANDER_dom Nucleotide-diphossugar_trans POMGNT1_PANDER-like |
| Domain families : Pfam (Sanger) | GNT-I (PF03071) ILEI (PF15711) |
| Domain families : Pfam (NCBI) | pfam03071 pfam15711 |
| 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 |
| Monarch | POMGNT1 |
| 1000_Genomes | POMGNT1 |
| Exome Variant Server | POMGNT1 |
| 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 |
|---|
| 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 |
|---|
| Protein Interactions : CTD | 55624 |
| Pharm GKB Gene | PA142671161 |
| Clinical trial | POMGNT1 |
| Miscellaneous |
|---|
| canSAR (ICR) | POMGNT1 (select the gene name) |
| Harmonizome | POMGNT1 |
| DataMed Index | POMGNT1 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 53 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | POMGNT1 |
| EVEX | POMGNT1 |
| GoPubMed | POMGNT1 |
