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POMT1 (protein O-mannosyltransferase 1)

Identity

Other namesLGMD2K
MDDGA1
MDDGB1
MDDGC1
RT
HGNC (Hugo) POMT1
LocusID (NCBI) 10585
Atlas_Id 50992
Location 9q34.13
Location_base_pair Starts at 134378289 and ends at 134399193 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LOC100507412 (-) / POMT1 (9q34.13)POMT1 (9q34.13) / ANP32A (15q23)POMT1 (9q34.13) / NUP214 (9q34.13)
USP19 (3p21.31) / POMT1 (9q34.13)POMT1 9q34.13 / NUP214 9q34.13

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)POMT1   9202
Cards
Entrez_Gene (NCBI)POMT1  10585  protein O-mannosyltransferase 1
AliasesLGMD2K; MDDGA1; MDDGB1; MDDGC1; 
RT
GeneCards (Weizmann)POMT1
Ensembl hg19 (Hinxton)ENSG00000130714 [Gene_View]  chr9:134378289-134399193 [Contig_View]  POMT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130714 [Gene_View]  chr9:134378289-134399193 [Contig_View]  POMT1 [Vega]
ICGC DataPortalENSG00000130714
TCGA cBioPortalPOMT1
AceView (NCBI)POMT1
Genatlas (Paris)POMT1
WikiGenes10585
SOURCE (Princeton)POMT1
Genomic and cartography
GoldenPath hg19 (UCSC)POMT1  -     chr9:134378289-134399193 +  9q34.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)POMT1  -     9q34.13   [Description]    (hg38-Dec_2013)
EnsemblPOMT1 - 9q34.13 [CytoView hg19]  POMT1 - 9q34.13 [CytoView hg38]
Mapping of homologs : NCBIPOMT1 [Mapview hg19]  POMT1 [Mapview hg38]
OMIM236670   607423   609308   613155   
Gene and transcription
Genbank (Entrez)AB209430 AF095136 AK000475 AK074874 AK074888
RefSeq transcript (Entrez)NM_001077365 NM_001077366 NM_001136113 NM_001136114 NM_007171
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_008896 NT_008470 NW_004929367
Consensus coding sequences : CCDS (NCBI)POMT1
Cluster EST : UnigeneHs.522449 [ NCBI ]
CGAP (NCI)Hs.522449
Alternative Splicing GalleryENSG00000130714
Gene ExpressionPOMT1 [ NCBI-GEO ]   POMT1 [ EBI - ARRAY_EXPRESS ]   POMT1 [ SEEK ]   POMT1 [ MEM ]
Gene Expression Viewer (FireBrowse)POMT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10585
GTEX Portal (Tissue expression)POMT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6A1 (Uniprot)
NextProtQ9Y6A1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6A1
Splice isoforms : SwissVarQ9Y6A1 (Swissvar)
Catalytic activity : Enzyme2.4.1.109 [ Enzyme-Expasy ]   2.4.1.1092.4.1.109 [ IntEnz-EBI ]   2.4.1.109 [ BRENDA ]   2.4.1.109 [ KEGG ]   
PhosPhoSitePlusQ9Y6A1
Domaine pattern : Prosite (Expaxy)MIR (PS50919)   
Domains : Interpro (EBI)GlyclTrfase_39-like    Glyco_trans_39/83    MIR_motif    PMT_4TMC   
Domain families : Pfam (Sanger)MIR (PF02815)    PMT (PF02366)    PMT_4TMC (PF16192)   
Domain families : Pfam (NCBI)pfam02815    pfam02366    pfam16192   
Domain families : Smart (EMBL)MIR (SM00472)  
DMDM Disease mutations10585
Blocks (Seattle)POMT1
SuperfamilyQ9Y6A1
Human Protein AtlasENSG00000130714
Peptide AtlasQ9Y6A1
HPRD06305
IPIIPI00298235   IPI00329484   IPI00329485   IPI00642847   IPI00977071   IPI01009280   IPI01013589   IPI00744180   IPI00642299   IPI00641628   IPI00552200   IPI00646801   IPI00553107   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6A1
IntAct (EBI)Q9Y6A1
FunCoupENSG00000130714
BioGRIDPOMT1
STRING (EMBL)POMT1
ZODIACPOMT1
Ontologies - Pathways
QuickGOQ9Y6A1
Ontology : AmiGOmannosyltransferase activity  cell wall mannoprotein biosynthetic process  acrosomal vesicle  dolichyl-phosphate-mannose-protein mannosyltransferase activity  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  carbohydrate metabolic process  protein O-linked glycosylation  multicellular organism development  integral component of membrane  sarcoplasmic reticulum  extracellular matrix organization  dolichyl-phosphate-mannose-protein mannosyltransferase complex  protein O-linked mannosylation  protein O-linked mannosylation  chain elongation of O-linked mannose residue  metal ion binding  regulation of endoplasmic reticulum unfolded protein response  
Ontology : EGO-EBImannosyltransferase activity  cell wall mannoprotein biosynthetic process  acrosomal vesicle  dolichyl-phosphate-mannose-protein mannosyltransferase activity  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  carbohydrate metabolic process  protein O-linked glycosylation  multicellular organism development  integral component of membrane  sarcoplasmic reticulum  extracellular matrix organization  dolichyl-phosphate-mannose-protein mannosyltransferase complex  protein O-linked mannosylation  protein O-linked mannosylation  chain elongation of O-linked mannose residue  metal ion binding  regulation of endoplasmic reticulum unfolded protein response  
Pathways : KEGGOther types of O-glycan biosynthesis   
NDEx Network
Atlas of Cancer Signalling NetworkPOMT1
Wikipedia pathwaysPOMT1
Orthology - Evolution
OrthoDB10585
GeneTree (enSembl)ENSG00000130714
Phylogenetic Trees/Animal Genes : TreeFamPOMT1
Homologs : HomoloGenePOMT1
Homology/Alignments : Family Browser (UCSC)POMT1
Gene fusions - Rearrangements
Fusion: TCGAPOMT1 9q34.13 NUP214 9q34.13 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerPOMT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POMT1
dbVarPOMT1
ClinVarPOMT1
1000_GenomesPOMT1 
Exome Variant ServerPOMT1
ExAC (Exome Aggregation Consortium)POMT1 (select the gene name)
Genetic variants : HAPMAP10585
Genomic Variants (DGV)POMT1 [DGVbeta]
Mutations
ICGC Data PortalPOMT1 
TCGA Data PortalPOMT1 
Broad Tumor PortalPOMT1
OASIS PortalPOMT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOMT1 
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 POMT1
DgiDB (Drug Gene Interaction Database)POMT1
DoCM (Curated mutations)POMT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POMT1 (select a term)
intoGenPOMT1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:134378289-134399193  ENSG00000130714
CONAN: Copy Number AnalysisPOMT1 
Mutations and Diseases : HGMDPOMT1
OMIM236670    607423    609308    613155   
MedgenPOMT1
Genetic Testing Registry POMT1
NextProtQ9Y6A1 [Medical]
TSGene10585
GENETestsPOMT1
Huge Navigator POMT1 [HugePedia]
snp3D : Map Gene to Disease10585
BioCentury BCIQPOMT1
ClinGenPOMT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10585
Chemical/Pharm GKB GenePA33527
Clinical trialPOMT1
Miscellaneous
canSAR (ICR)POMT1 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOMT1
EVEXPOMT1
GoPubMedPOMT1
iHOPPOMT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:16:30 CEST 2016

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