MPDU1 (mannose-P-dolichol utilization defect 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9526
Gene name Mannose-P-dolichol utilization defect 1
Gene symbol MPDU1
Synonyms (NCBI Gene)
CDGIFHBEBP2BPALec35My008PP3958PQLC5SL15SLC66A5
Chromosome 17
Chromosome location 17p13.1
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 cong
SNPs SNP information provided by dbSNP.
5
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.
152
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604041 7207 ENSG00000129255
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
MPDU1-congenital disorder of glycosylation Likely pathogenic; Pathogenic rs2150933483, rs104894587, rs104894588, rs104894589, rs1555570093, rs1555570110, rs999384296 RCV001808899
RCV000006226
RCV000006227
RCV000006229
RCV000590863
View all (2 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1F — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Brachycephaly Brachycephaly CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral cortical atrophy Cerebral cortical atrophy CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital disorder of glycosylation type 1q Congenital Disorder Of Glycosylation GENOMICS_ENGLAND_DG 11733564
★★★★★
★☆☆☆☆
Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id Congenital disorder of glycosylation BEFREE 16079417
★★★★★
★☆☆☆☆
Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If Congenital disorder of glycosylation BEFREE 11733556, 11733564, 16079417
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If Congenital disorder of glycosylation UNIPROT_DG 11733556, 11733564
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If Congenital disorder of glycosylation GENOMICS_ENGLAND_DG 11733556, 11733564, 27604308
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If Congenital disorder of glycosylation CTD_human_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations