MPDU1 (mannose-P-dolichol utilization defect 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9526
Gene name Gene Name - the full gene name approved by the HGNC.
Mannose-P-dolichol utilization defect 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MPDU1
Synonyms (NCBI Gene) Gene synonyms aliases
CDGIF, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15, SLC66A5
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 cong
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs104894587 T>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs756471132 C>- Likely-pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs777696608 CA>- Likely-pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs1555570093 G>A Likely-pathogenic Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1555570110 A>C Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(152)
miRTarBase ID miRNA Experiments Reference
MIRT005170 hsa-miR-30a-5p pSILAC 18668040
MIRT023716 hsa-miR-1-3p Proteomics 18668040
MIRT025769 hsa-miR-7-5p Microarray 19073608
MIRT005170 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT029313 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16237761, 32296183
GO:0005789 Component Endoplasmic reticulum membrane NAS
GO:0006457 Process Protein folding NAS
GO:0006488 Process Dolichol-linked oligosaccharide biosynthetic process TAS 11733564
GO:0009312 Process Oligosaccharide biosynthetic process IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604041 7207 ENSG00000129255
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75352
Protein name Mannose-P-dolichol utilization defect 1 protein (Suppressor of Lec15 and Lec35 glycosylation mutation homolog) (SL15)
Protein function Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04193 PQ-loop 42 → 102 PQ loop repeat Repeat
PF04193 PQ-loop 153 → 213 PQ loop repeat Repeat
Sequence 
MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLP
QVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLV
MHYRGQTVKGVAFLACYGLVLLVLLSPLTPLTVVTLLQASNVPAVVVGRLLQAATNYHNG
HTGQLSAITVFLLFGGSLARIFTSIQETGDPLMAGTFVVSSLCNGLIAAQLLFYWNAKPP
HKQKKAQ
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective MPDU1 causes MPDU1-CDG (CDG-1f)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Congenital disorder of glycosylation Congenital Disorders of Glycosylation, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If, Congenital disorder of glycosylation type 1q, MPDU1-CDG rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)		 11733564, 11733556, 27604308
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Glomerulonephritis IGA Glomerulonephritis rs778043831 22197929
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Congenital Disorders of Glycosylation Associate 11733564
Stomach Neoplasms Associate 29671116