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POMT1 (protein-O-mannosyltransferase 1)

Identity

Other namesLGMD2K
MDDGA1
MDDGB1
MDDGC1
RT
HGNC (Hugo) POMT1
LocusID (NCBI) 10585
Location 9q34.13
Location_base_pair Starts at 134378289 and ends at 134399193 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)POMT1   9202
Cards
Entrez_Gene (NCBI)POMT1  10585  protein-O-mannosyltransferase 1
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
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)AC_000141 NC_000009 NC_018920 NG_008896 NT_008470 NW_001839240 NW_004929367
Consensus coding sequences : CCDS (NCBI)POMT1
Cluster EST : UnigeneHs.522449 [ NCBI ]
CGAP (NCI)Hs.522449
Alternative Splicing : Fast-db (Paris)GSHG0030530
Alternative Splicing GalleryENSG00000130714
Gene ExpressionPOMT1 [ NCBI-GEO ]     POMT1 [ SEEK ]   POMT1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6A1 (Uniprot)
NextProtQ9Y6A1  [Medical]
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 ]   
Domaine pattern : Prosite (Expaxy)MIR (PS50919)   
Domains : Interpro (EBI)GlyclTrfase_39_like    Glyco_trans_39    MIR_motif   
Related proteins : CluSTrQ9Y6A1
Domain families : Pfam (Sanger)MIR (PF02815)    PMT (PF02366)   
Domain families : Pfam (NCBI)pfam02815    pfam02366   
Domain families : Smart (EMBL)MIR (SM00472)  
DMDM Disease mutations10585
Blocks (Seattle)Q9Y6A1
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
IntegromeDBPOMT1
STRING (EMBL)POMT1
Ontologies - Pathways
QuickGOQ9Y6A1
Ontology : AmiGOmannosyltransferase activity  acrosomal vesicle  dolichyl-phosphate-mannose-protein mannosyltransferase activity  endoplasmic reticulum  endoplasmic reticulum membrane  carbohydrate metabolic process  protein O-linked glycosylation  multicellular organismal development  integral component of membrane  sarcoplasmic reticulum  extracellular matrix organization  protein O-linked mannosylation  metal ion binding  mannosylation  
Ontology : EGO-EBImannosyltransferase activity  acrosomal vesicle  dolichyl-phosphate-mannose-protein mannosyltransferase activity  endoplasmic reticulum  endoplasmic reticulum membrane  carbohydrate metabolic process  protein O-linked glycosylation  multicellular organismal development  integral component of membrane  sarcoplasmic reticulum  extracellular matrix organization  protein O-linked mannosylation  metal ion binding  mannosylation  
Pathways : KEGGOther types of O-glycan biosynthesis   
Protein Interaction DatabasePOMT1
DoCM (Curated mutations)POMT1
Wikipedia pathwaysPOMT1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPOMT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POMT1
dbVarPOMT1
ClinVarPOMT1
1000_GenomesPOMT1 
Exome Variant ServerPOMT1
SNP (GeneSNP Utah)POMT1
SNP : HGBasePOMT1
Genetic variants : HAPMAPPOMT1
Genomic VariantsPOMT1  POMT1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000130714 
Somatic Mutations in Cancer : COSMICPOMT1 
CONAN: Copy Number AnalysisPOMT1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:134378289-134399193
Mutations and Diseases : HGMDPOMT1
OMIM236670    607423    609308    613155   
MedgenPOMT1
NextProtQ9Y6A1 [Medical]
GENETestsPOMT1
Disease Genetic AssociationPOMT1
Huge Navigator POMT1 [HugePedia]  POMT1 [HugeCancerGEM]
snp3D : Map Gene to Disease10585
DGIdb (Drug Gene Interaction db)POMT1
General knowledge
Homologs : HomoloGenePOMT1
Homology/Alignments : Family Browser (UCSC)POMT1
Phylogenetic Trees/Animal Genes : TreeFamPOMT1
Chemical/Protein Interactions : CTD10585
Chemical/Pharm GKB GenePA33527
Clinical trialPOMT1
Cancer Resource (Charite)ENSG00000130714
Other databases
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
CoreMinePOMT1
GoPubMedPOMT1
iHOPPOMT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:54:24 CET 2014

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