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MPDU1 (mannose-P-dolichol utilization defect 1)

Identity

Alias (NCBI)CDGIF
HBEBP2BPA
Lec35
My008
PP3958
PQLC5
SL15
SLC66A5
HGNC (Hugo) MPDU1
HGNC Alias symbSL15
Lec35
PQLC5
CDGIf
LocusID (NCBI) 9526
Atlas_Id 70387
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 7583852 and ends at 7588209 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)
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    mannose-P-dolichol utilization defect 1
AliasesCDGIF; HBEBP2BPA; Lec35; My008; 
PP3958; PQLC5; SL15; SLC66A5
GeneCards (Weizmann)MPDU1
Ensembl hg19 (Hinxton)ENSG00000129255 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129255 [Gene_View]  ENSG00000129255 [Sequence]  chr17:7583852-7588209 [Contig_View]  MPDU1 [Vega]
ICGC DataPortalENSG00000129255
TCGA cBioPortalMPDU1
AceView (NCBI)MPDU1
Genatlas (Paris)MPDU1
SOURCE (Princeton)MPDU1
Genetics Home Reference (NIH)MPDU1
Genomic and cartography
GoldenPath hg38 (UCSC)MPDU1  -     chr17:7583852-7588209 +  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MPDU1  -     17p13.1   [Description]    (hg19-Feb_2009)
GoldenPathMPDU1 - 17p13.1 [CytoView hg19]  MPDU1 - 17p13.1 [CytoView hg38]
ImmunoBaseENSG00000129255
Genome Data Viewer NCBIMPDU1 [Mapview hg19]  
OMIM604041   609180   
Gene and transcription
Genbank (Entrez)AF038961 AF059752 AF258568 AK027742 AK055923
RefSeq transcript (Entrez)NM_001330073 NM_004870
Consensus coding sequences : CCDS (NCBI)MPDU1
Gene ExpressionMPDU1 [ NCBI-GEO ]   MPDU1 [ EBI - ARRAY_EXPRESS ]   MPDU1 [ SEEK ]   MPDU1 [ MEM ]
Gene Expression Viewer (FireBrowse)MPDU1 [ Firebrowse - Broad ]
GenevisibleExpression of MPDU1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9526
GTEX Portal (Tissue expression)MPDU1
Human Protein AtlasENSG00000129255-MPDU1 [pathology]   [cell]   [tissue]
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
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
SuperfamilyO75352
AlphaFold pdb e-kbO75352   
Human Protein Atlas [tissue]ENSG00000129255-MPDU1 [tissue]
HPRD04951
Protein Interaction databases
DIP (DOE-UCLA)O75352
IntAct (EBI)O75352
BioGRIDMPDU1
STRING (EMBL)MPDU1
ZODIACMPDU1
Ontologies - Pathways
QuickGOO75352
Ontology : AmiGOprotein binding  endoplasmic reticulum membrane  protein folding  dolichol-linked oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  membrane  integral component of membrane  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum membrane  protein folding  dolichol-linked oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  membrane  integral component of membrane  
NDEx NetworkMPDU1
Atlas of Cancer Signalling NetworkMPDU1
Wikipedia pathwaysMPDU1
Orthology - Evolution
OrthoDB9526
GeneTree (enSembl)ENSG00000129255
Phylogenetic Trees/Animal Genes : TreeFamMPDU1
Homologs : HomoloGeneMPDU1
Homology/Alignments : Family Browser (UCSC)MPDU1
Gene fusions - Rearrangements
Fusion : QuiverMPDU1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMPDU1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MPDU1
dbVarMPDU1
ClinVarMPDU1
MonarchMPDU1
1000_GenomesMPDU1 
Exome Variant ServerMPDU1
GNOMAD BrowserENSG00000129255
Varsome BrowserMPDU1
ACMGMPDU1 variants
VarityO75352
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]  
Somatic Mutations in Cancer : COSMIC3DMPDU1
Mutations and Diseases : HGMDMPDU1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMPDU1
DgiDB (Drug Gene Interaction Database)MPDU1
DoCM (Curated mutations)MPDU1
CIViC (Clinical Interpretations of Variants in Cancer)MPDU1
Cancer3DMPDU1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604041    609180   
Orphanet11349   
DisGeNETMPDU1
MedgenMPDU1
Genetic Testing Registry MPDU1
NextProtO75352 [Medical]
GENETestsMPDU1
Target ValidationMPDU1
Huge Navigator MPDU1 [HugePedia]
ClinGenMPDU1
Clinical trials, drugs, therapy
MyCancerGenomeMPDU1
Protein Interactions : CTDMPDU1
Pharm GKB GenePA30913
PharosO75352
Clinical trialMPDU1
Miscellaneous
canSAR (ICR)MPDU1
HarmonizomeMPDU1
DataMed IndexMPDU1
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMPDU1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:11:29 CEST 2021

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