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MPDU1 (mannose-P-dolichol utilization defect 1)

Identity

Alias_symbol (synonym)SL15
Lec35
PQLC5
CDGIf
Other aliasCDGIF
HBEBP2BPA
My008
PP3958
HGNC (Hugo) MPDU1
LocusID (NCBI) 9526
Atlas_Id 70387
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 7583647 and ends at 7588209 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MPDU1 (17p13.1) / CTDNEP1 (17p13.1)MPDU1 (17p13.1) / GUCD1 (22q11.23)MPDU1 (17p13.1) / MPDU1 (17p13.1)
MPDU1 (17p13.1) / TANC2 (17q23.2)MPDU1 (17p13.1) / TRIM15 (6p22.1)PPP1R12B (1q32.1) / MPDU1 (17p13.1)
TMCO3 (13q34) / MPDU1 (17p13.1)MPDU1 C22orf13MPDU1 CTDNEP1

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)MPDU1   7207
Cards
Entrez_Gene (NCBI)MPDU1  9526  mannose-P-dolichol utilization defect 1
AliasesCDGIF; HBEBP2BPA; Lec35; My008; 
PP3958; PQLC5; SL15
GeneCards (Weizmann)MPDU1
Ensembl hg19 (Hinxton)ENSG00000129255 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129255 [Gene_View]  chr17:7583647-7588209 [Contig_View]  MPDU1 [Vega]
ICGC DataPortalENSG00000129255
TCGA cBioPortalMPDU1
AceView (NCBI)MPDU1
Genatlas (Paris)MPDU1
WikiGenes9526
SOURCE (Princeton)MPDU1
Genetics Home Reference (NIH)MPDU1
Genomic and cartography
GoldenPath hg38 (UCSC)MPDU1  -     chr17:7583647-7588209 +  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MPDU1  -     17p13.1   [Description]    (hg19-Feb_2009)
EnsemblMPDU1 - 17p13.1 [CytoView hg19]  MPDU1 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIMPDU1 [Mapview hg19]  MPDU1 [Mapview hg38]
OMIM604041   609180   
Gene and transcription
Genbank (Entrez)AF038961 AF059752 AF258568 AK027742 AK055923
RefSeq transcript (Entrez)NM_001330073 NM_004870
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MPDU1
Cluster EST : UnigeneHs.246381 [ NCBI ]
CGAP (NCI)Hs.246381
Alternative Splicing GalleryENSG00000129255
Gene ExpressionMPDU1 [ NCBI-GEO ]   MPDU1 [ EBI - ARRAY_EXPRESS ]   MPDU1 [ SEEK ]   MPDU1 [ MEM ]
Gene Expression Viewer (FireBrowse)MPDU1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9526
GTEX Portal (Tissue expression)MPDU1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75352   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75352  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75352
Splice isoforms : SwissVarO75352
PhosPhoSitePlusO75352
Domains : Interpro (EBI)MannP-dilichol_defect-1    PQ-loop_rpt   
Domain families : Pfam (Sanger)PQ-loop (PF04193)   
Domain families : Pfam (NCBI)pfam04193   
Domain families : Smart (EMBL)CTNS (SM00679)  
Conserved Domain (NCBI)MPDU1
DMDM Disease mutations9526
Blocks (Seattle)MPDU1
SuperfamilyO75352
Human Protein AtlasENSG00000129255
Peptide AtlasO75352
HPRD04951
IPIIPI00025292   IPI00788684   IPI00796533   IPI00759799   IPI00383181   IPI00105068   IPI00792565   
Protein Interaction databases
DIP (DOE-UCLA)O75352
IntAct (EBI)O75352
FunCoupENSG00000129255
BioGRIDMPDU1
STRING (EMBL)MPDU1
ZODIACMPDU1
Ontologies - Pathways
QuickGOO75352
Ontology : AmiGOprotein binding  endoplasmic reticulum membrane  protein folding  dolichol-linked oligosaccharide biosynthetic process  transport  oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  membrane  integral component of membrane  extracellular exosome  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum membrane  protein folding  dolichol-linked oligosaccharide biosynthetic process  transport  oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  membrane  integral component of membrane  extracellular exosome  
NDEx NetworkMPDU1
Atlas of Cancer Signalling NetworkMPDU1
Wikipedia pathwaysMPDU1
Orthology - Evolution
OrthoDB9526
GeneTree (enSembl)ENSG00000129255
Phylogenetic Trees/Animal Genes : TreeFamMPDU1
HOVERGENO75352
HOGENOMO75352
Homologs : HomoloGeneMPDU1
Homology/Alignments : Family Browser (UCSC)MPDU1
Gene fusions - Rearrangements
Fusion: TCGAMPDU1 C22orf13
Fusion: TCGAMPDU1 CTDNEP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMPDU1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MPDU1
dbVarMPDU1
ClinVarMPDU1
1000_GenomesMPDU1 
Exome Variant ServerMPDU1
ExAC (Exome Aggregation Consortium)MPDU1 (select the gene name)
Genetic variants : HAPMAP9526
Genomic Variants (DGV)MPDU1 [DGVbeta]
DECIPHERMPDU1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMPDU1 
Mutations
ICGC Data PortalMPDU1 
TCGA Data PortalMPDU1 
Broad Tumor PortalMPDU1
OASIS PortalMPDU1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMPDU1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMPDU1
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
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MPDU1
DgiDB (Drug Gene Interaction Database)MPDU1
DoCM (Curated mutations)MPDU1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MPDU1 (select a term)
intoGenMPDU1
Cancer3DMPDU1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604041    609180   
Orphanet11349   
MedgenMPDU1
Genetic Testing Registry MPDU1
NextProtO75352 [Medical]
TSGene9526
GENETestsMPDU1
Target ValidationMPDU1
Huge Navigator MPDU1 [HugePedia]
snp3D : Map Gene to Disease9526
BioCentury BCIQMPDU1
ClinGenMPDU1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9526
Chemical/Pharm GKB GenePA30913
Clinical trialMPDU1
Miscellaneous
canSAR (ICR)MPDU1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMPDU1
EVEXMPDU1
GoPubMedMPDU1
iHOPMPDU1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:31:02 CEST 2017

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