Homo sapiens Gene: MPDU1
Summary
InnateDB Gene IDBG-26005.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MPDU1
Gene Name mannose-P-dolichol utilization defect 1
Synonyms CDGIF; HBEBP2BPA; Lec35; My008; PP3958; PQLC5; SL15;
Species Homo sapiens
Ensembl Gene ENSG00000129255
Encoded Proteins
mannose-P-dolichol utilization defect 1
mannose-P-dolichol utilization defect 1
mannose-P-dolichol utilization defect 1
mannose-P-dolichol utilization defect 1
mannose-P-dolichol utilization defect 1
mannose-P-dolichol utilization defect 1
mannose-P-dolichol utilization defect 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:7583529-7592789
Strand Forward strand
Band p13.1
Transcripts
ENST00000359822 ENSP00000352876
ENST00000250124 ENSP00000250124
ENST00000396501 ENSP00000379758
ENST00000423172 ENSP00000414071
ENST00000576066 ENSP00000461183
ENST00000572936 ENSP00000459306
ENST00000581380 ENSP00000463966
ENST00000581886
ENST00000580834 ENSP00000463056
ENST00000585188
ENST00000574558 ENSP00000461499
ENST00000572836
ENST00000571877
ENST00000576272 ENSP00000460864
ENST00000578267
ENST00000575256
ENST00000570458 ENSP00000459409
ENST00000572719 ENSP00000459498
ENST00000577088
ENST00000571822 ENSP00000458741
ENST00000580708 ENSP00000464524
ENST00000584479 ENSP00000462229
ENST00000571391
ENST00000582151 ENSP00000462500
ENST00000584378 ENSP00000462839
ENST00000585217 ENSP00000463037
ENST00000579445 ENSP00000464158
ENST00000620608 ENSP00000483915
ENST00000614740 ENSP00000483943
ENST00000621041 ENSP00000479257
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006457 protein folding
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0006810 transport
GO:0009312 oligosaccharide biosynthetic process
Cellular Component
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Post-translational protein modification pathway
Asparagine N-linked glycosylation pathway
Metabolism of proteins pathway
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O75352
TrEMBL B4DT74 I3L1D2 I3L295 I3L4E0 J3KSI4 J3KT75 J3KTK8 J3QQZ4 J3QRD5 J3QS48 J3QW43 Q1HDL3 Q9H3L2
UniProt Splice Variant
Entrez Gene 9526
UniGene
RefSeq NM_004870 XM_006721599
HUGO HGNC:7207
OMIM 604041
CCDS CCDS11115
HPRD
IMGT
EMBL AC016876 AF038961 AF059752 AK075299 AK300083 BC001898 CH471108 DQ499597 FJ695203
GenPept AAC39875 AAG43121 AAH01898 ABF54968 BAG52103 BAG61886 EAW90161
RNA Seq Atlas 9526