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POGLUT1 (protein O-glucosyltransferase 1)

Identity

Alias_namesC3orf9
KTELC1
chromosome 3 open reading frame 9
KTEL (Lys-Tyr-Glu-Leu) containing 1
Alias_symbol (synonym)MDS010
MGC32995
9630046K23Rik
MDSRP
hCLP46
KDELCL1
Rumi
Other aliasCLP46
LGMD2Z
HGNC (Hugo) POGLUT1
LocusID (NCBI) 56983
Atlas_Id 52339
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 119468938 and ends at 119494707 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)
SETD2 (3p21.31) / POGLUT1 (3q13.33)SETD2 3p21.31 / POGLUT1 3q13.33

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)POGLUT1   22954
Cards
Entrez_Gene (NCBI)POGLUT1  56983  protein O-glucosyltransferase 1
AliasesC3orf9; CLP46; KDELCL1; KTELC1; 
LGMD2Z; MDS010; MDSRP; Rumi; hCLP46
GeneCards (Weizmann)POGLUT1
Ensembl hg19 (Hinxton)ENSG00000163389 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163389 [Gene_View]  chr3:119468938-119494707 [Contig_View]  POGLUT1 [Vega]
ICGC DataPortalENSG00000163389
TCGA cBioPortalPOGLUT1
AceView (NCBI)POGLUT1
Genatlas (Paris)POGLUT1
WikiGenes56983
SOURCE (Princeton)POGLUT1
Genetics Home Reference (NIH)POGLUT1
Genomic and cartography
GoldenPath hg38 (UCSC)POGLUT1  -     chr3:119468938-119494707 +  3q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POGLUT1  -     3q13.33   [Description]    (hg19-Feb_2009)
EnsemblPOGLUT1 - 3q13.33 [CytoView hg19]  POGLUT1 - 3q13.33 [CytoView hg38]
Mapping of homologs : NCBIPOGLUT1 [Mapview hg19]  POGLUT1 [Mapview hg38]
OMIM615618   615696   617232   
Gene and transcription
Genbank (Entrez)AF168711 AK027012 AK075444 AK126736 AK222937
RefSeq transcript (Entrez)NM_152305
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POGLUT1
Cluster EST : UnigeneHs.231750 [ NCBI ]
CGAP (NCI)Hs.231750
Alternative Splicing GalleryENSG00000163389
Gene ExpressionPOGLUT1 [ NCBI-GEO ]   POGLUT1 [ EBI - ARRAY_EXPRESS ]   POGLUT1 [ SEEK ]   POGLUT1 [ MEM ]
Gene Expression Viewer (FireBrowse)POGLUT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56983
GTEX Portal (Tissue expression)POGLUT1
Human Protein AtlasENSG00000163389-POGLUT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NBL1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NBL1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NBL1
Splice isoforms : SwissVarQ8NBL1
Catalytic activity : Enzyme2.4.1.- [ Enzyme-Expasy ]   2.4.1.-2.4.1.- [ IntEnz-EBI ]   2.4.1.- [ BRENDA ]   2.4.1.- [ KEGG ]   
PhosPhoSitePlusQ8NBL1
Domains : Interpro (EBI)LipoPS_modifying   
Domain families : Pfam (Sanger)Glyco_transf_90 (PF05686)   
Domain families : Pfam (NCBI)pfam05686   
Domain families : Smart (EMBL)CAP10 (SM00672)  
Conserved Domain (NCBI)POGLUT1
DMDM Disease mutations56983
Blocks (Seattle)POGLUT1
SuperfamilyQ8NBL1
Human Protein Atlas [tissue]ENSG00000163389-POGLUT1 [tissue]
Peptide AtlasQ8NBL1
HPRD17475
IPIIPI00301163   IPI00908422   IPI00946410   IPI00946573   IPI00945527   
Protein Interaction databases
DIP (DOE-UCLA)Q8NBL1
IntAct (EBI)Q8NBL1
FunCoupENSG00000163389
BioGRIDPOGLUT1
STRING (EMBL)POGLUT1
ZODIACPOGLUT1
Ontologies - Pathways
QuickGOQ8NBL1
Ontology : AmiGOsomitogenesis  endoplasmic reticulum lumen  protein O-linked glycosylation  glycolipid metabolic process  gastrulation  regulation of gastrulation  protein O-linked glycosylation via serine  protein xylosyltransferase activity  UDP-glucosyltransferase activity  UDP-glucosyltransferase activity  UDP-xylosyltransferase activity  UDP-xylosyltransferase activity  positive regulation of Notch signaling pathway  positive regulation of Notch signaling pathway  glucosyltransferase activity  axial mesoderm development  paraxial mesoderm development  muscle tissue development  extracellular exosome  cardiovascular system development  
Ontology : EGO-EBIsomitogenesis  endoplasmic reticulum lumen  protein O-linked glycosylation  glycolipid metabolic process  gastrulation  regulation of gastrulation  protein O-linked glycosylation via serine  protein xylosyltransferase activity  UDP-glucosyltransferase activity  UDP-glucosyltransferase activity  UDP-xylosyltransferase activity  UDP-xylosyltransferase activity  positive regulation of Notch signaling pathway  positive regulation of Notch signaling pathway  glucosyltransferase activity  axial mesoderm development  paraxial mesoderm development  muscle tissue development  extracellular exosome  cardiovascular system development  
Pathways : KEGGOther types of O-glycan biosynthesis   
NDEx NetworkPOGLUT1
Atlas of Cancer Signalling NetworkPOGLUT1
Wikipedia pathwaysPOGLUT1
Orthology - Evolution
OrthoDB56983
GeneTree (enSembl)ENSG00000163389
Phylogenetic Trees/Animal Genes : TreeFamPOGLUT1
HOVERGENQ8NBL1
HOGENOMQ8NBL1
Homologs : HomoloGenePOGLUT1
Homology/Alignments : Family Browser (UCSC)POGLUT1
Gene fusions - Rearrangements
Fusion : MitelmanSETD2/POGLUT1 [3p21.31/3q13.33]  [t(3;3)(p21;q13)]  
Fusion: TCGA_MDACCSETD2 3p21.31 POGLUT1 3q13.33 LUAD
Tumor Fusion PortalPOGLUT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOGLUT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POGLUT1
dbVarPOGLUT1
ClinVarPOGLUT1
1000_GenomesPOGLUT1 
Exome Variant ServerPOGLUT1
ExAC (Exome Aggregation Consortium)ENSG00000163389
GNOMAD BrowserENSG00000163389
Genetic variants : HAPMAP56983
Genomic Variants (DGV)POGLUT1 [DGVbeta]
DECIPHERPOGLUT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOGLUT1 
Mutations
ICGC Data PortalPOGLUT1 
TCGA Data PortalPOGLUT1 
Broad Tumor PortalPOGLUT1
OASIS PortalPOGLUT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOGLUT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOGLUT1
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 POGLUT1
DgiDB (Drug Gene Interaction Database)POGLUT1
DoCM (Curated mutations)POGLUT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POGLUT1 (select a term)
intoGenPOGLUT1
Cancer3DPOGLUT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615618    615696    617232   
Orphanet11171   
DisGeNETPOGLUT1
MedgenPOGLUT1
Genetic Testing Registry POGLUT1
NextProtQ8NBL1 [Medical]
TSGene56983
GENETestsPOGLUT1
Target ValidationPOGLUT1
Huge Navigator POGLUT1 [HugePedia]
snp3D : Map Gene to Disease56983
BioCentury BCIQPOGLUT1
ClinGenPOGLUT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56983
Chemical/Pharm GKB GenePA162393771
Clinical trialPOGLUT1
Miscellaneous
canSAR (ICR)POGLUT1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOGLUT1
EVEXPOGLUT1
GoPubMedPOGLUT1
iHOPPOGLUT1
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 : Tue Nov 21 14:29:28 CET 2017

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