Atlas of Genetics and Cytogenetics in Oncology and Haematology


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POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))

Identity

Alias_namesMEB
muscle-eye-brain disease
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Alias_symbol (synonym)FLJ20277
MGAT1.2
LGMD2O
Other aliasGNTI.2
GnT I.2
LGMDR15
RP76
gnT-I.2
HGNC (Hugo) POMGNT1
LocusID (NCBI) 55624
Atlas_Id 56373
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 46188681 and ends at 46198449 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)
PIGW (17q12) / POMGNT1 (1p34.1)POMGNT1 (1p34.1) / POMGNT1 (1p34.1)

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)POMGNT1   19139
LRG (Locus Reference Genomic)LRG_701
Cards
Entrez_Gene (NCBI)POMGNT1  55624  protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
AliasesGNTI.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 DataPortalENSG00000085998
TCGA cBioPortalPOMGNT1
AceView (NCBI)POMGNT1
Genatlas (Paris)POMGNT1
WikiGenes55624
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)
GoldenPathPOMGNT1 - 1p34.1 [CytoView hg19]  POMGNT1 - 1p34.1 [CytoView hg38]
ImmunoBaseENSG00000085998
Mapping of homologs : NCBIPOMGNT1 [Mapview hg19]  POMGNT1 [Mapview hg38]
OMIM253280   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 : UnigeneHs.525134 [ NCBI ]
CGAP (NCI)Hs.525134
Alternative Splicing GalleryENSG00000085998
Gene ExpressionPOMGNT1 [ 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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55624
GTEX Portal (Tissue expression)POMGNT1
Human Protein AtlasENSG00000085998-POMGNT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WZA1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WZA1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WZA1
Splice isoforms : SwissVarQ8WZA1
Catalytic activity : Enzyme2.4.1.- [ Enzyme-Expasy ]   2.4.1.-2.4.1.- [ IntEnz-EBI ]   2.4.1.- [ BRENDA ]   2.4.1.- [ KEGG ]   
PhosPhoSitePlusQ8WZA1
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 mutations55624
Blocks (Seattle)POMGNT1
PDB (RSDB)5GGF    5GGG    5GGI    5GGJ    5GGK    5GGL    5GGN    5GGO    5GGP    5XFC   
PDB Europe5GGF    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 KnowledgeBase5GGF    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   
SuperfamilyQ8WZA1
Human Protein Atlas [tissue]ENSG00000085998-POMGNT1 [tissue]
Peptide AtlasQ8WZA1
HPRD09493
IPIIPI00550558   IPI01015102   IPI00470842   IPI00292567   
Protein Interaction databases
DIP (DOE-UCLA)Q8WZA1
IntAct (EBI)Q8WZA1
FunCoupENSG00000085998
BioGRIDPOMGNT1
STRING (EMBL)POMGNT1
ZODIACPOMGNT1
Ontologies - Pathways
QuickGOQ8WZA1
Ontology : AmiGOGolgi 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-EBIGolgi 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 : KEGGOther types of O-glycan biosynthesis   
NDEx NetworkPOMGNT1
Atlas of Cancer Signalling NetworkPOMGNT1
Wikipedia pathwaysPOMGNT1
Orthology - Evolution
OrthoDB55624
GeneTree (enSembl)ENSG00000085998
Phylogenetic Trees/Animal Genes : TreeFamPOMGNT1
HOGENOMQ8WZA1
Homologs : HomoloGenePOMGNT1
Homology/Alignments : Family Browser (UCSC)POMGNT1
Gene fusions - Rearrangements
Fusion : QuiverPOMGNT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOMGNT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POMGNT1
dbVarPOMGNT1
ClinVarPOMGNT1
1000_GenomesPOMGNT1 
Exome Variant ServerPOMGNT1
ExAC (Exome Aggregation Consortium)ENSG00000085998
GNOMAD BrowserENSG00000085998
Varsome BrowserPOMGNT1
Genetic variants : HAPMAP55624
Genomic Variants (DGV)POMGNT1 [DGVbeta]
DECIPHERPOMGNT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOMGNT1 
Mutations
ICGC Data PortalPOMGNT1 
TCGA Data PortalPOMGNT1 
Broad Tumor PortalPOMGNT1
OASIS PortalPOMGNT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOMGNT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPOMGNT1
Mutations and Diseases : HGMDPOMGNT1
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
BioMutasearch 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)
intoGenPOMGNT1
Cancer3DPOMGNT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM253280    606822    613151    613157    617123   
Orphanet659    18523    22509    8726    8725   
DisGeNETPOMGNT1
MedgenPOMGNT1
Genetic Testing Registry POMGNT1
NextProtQ8WZA1 [Medical]
TSGene55624
GENETestsPOMGNT1
Target ValidationPOMGNT1
Huge Navigator POMGNT1 [HugePedia]
snp3D : Map Gene to Disease55624
BioCentury BCIQPOMGNT1
ClinGenPOMGNT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55624
Chemical/Pharm GKB GenePA142671161
Clinical trialPOMGNT1
Miscellaneous
canSAR (ICR)POMGNT1 (select the gene name)
DataMed IndexPOMGNT1
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOMGNT1
EVEXPOMGNT1
GoPubMedPOMGNT1
iHOPPOMGNT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:01:48 CET 2019

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