UniProtKB - O75352 (MPU1_HUMAN)
Protein
Mannose-P-dolichol utilization defect 1 protein
Gene
MPDU1
Organism
Homo sapiens (Human)
Status
Functioni
Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.By similarity
GO - Biological processi
- dolichol-linked oligosaccharide biosynthetic process Source: UniProtKB
- oligosaccharide biosynthetic process Source: UniProtKB
- protein folding Source: UniProtKB
Keywordsi
Biological process | Transport |
Enzyme and pathway databases
PathwayCommonsi | O75352 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-4687000, Defective MPDU1 causes MPDU1-CDG (CDG-1f) |
Names & Taxonomyi
Protein namesi | Recommended name: Mannose-P-dolichol utilization defect 1 proteinAlternative name(s): Suppressor of Lec15 and Lec35 glycosylation mutation homolog Short name: SL15 |
Gene namesi | Name:MPDU1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7207, MPDU1 |
MIMi | 604041, gene |
neXtProti | NX_O75352 |
VEuPathDBi | HostDB:ENSG00000129255.14 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 37 – 57 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 74 – 94 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 100 – 120 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 128 – 145 | HelicalSequence analysisAdd BLAST | 18 | |
Transmembranei | 151 – 171 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 185 – 205 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 213 – 233 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Congenital disorder of glycosylation 1F (CDG1F)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021388 | 73 | G → E in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894586EnsemblClinVar. | 1 | |
Natural variantiVAR_021389 | 74 | L → S in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894589EnsemblClinVar. | 1 | |
Natural variantiVAR_021390 | 119 | L → P in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894587EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital disorder of glycosylation, Disease variantOrganism-specific databases
DisGeNETi | 9526 |
MalaCardsi | MPDU1 |
MIMi | 609180, phenotype |
OpenTargetsi | ENSG00000129255 |
Orphaneti | 79323, MPDU1-CDG |
PharmGKBi | PA30913 |
Miscellaneous databases
Pharosi | O75352, Tbio |
Genetic variation databases
BioMutai | MPDU1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000221034 | 2 – 247 | Mannose-P-dolichol utilization defect 1 proteinAdd BLAST | 246 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | O75352 |
jPOSTi | O75352 |
MassIVEi | O75352 |
MaxQBi | O75352 |
PaxDbi | O75352 |
PeptideAtlasi | O75352 |
PRIDEi | O75352 |
ProteomicsDBi | 49919 [O75352-1] 5083 |
TopDownProteomicsi | O75352-1 [O75352-1] |
PTM databases
iPTMneti | O75352 |
PhosphoSitePlusi | O75352 |
SwissPalmi | O75352 |
Expressioni
Gene expression databases
Bgeei | ENSG00000129255, Expressed in adult mammalian kidney and 200 other tissues |
ExpressionAtlasi | O75352, baseline and differential |
Genevisiblei | O75352, HS |
Organism-specific databases
HPAi | ENSG00000129255, Tissue enhanced (liver) |
Interactioni
Binary interactionsi
O75352
With | #Exp. | IntAct |
---|---|---|
MANBAL [Q9NQG1] | 3 | EBI-1046501,EBI-3867271 |
Protein-protein interaction databases
BioGRIDi | 114902, 24 interactors |
IntActi | O75352, 5 interactors |
STRINGi | 9606.ENSP00000250124 |
Miscellaneous databases
RNActi | O75352, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 39 – 105 | PQ-loop 1Add BLAST | 67 | |
Domaini | 159 – 216 | PQ-loop 2Add BLAST | 58 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3211, Eukaryota |
GeneTreei | ENSGT00940000153916 |
HOGENOMi | CLU_053568_2_0_1 |
InParanoidi | O75352 |
OMAi | IQSCNIP |
OrthoDBi | 895743at2759 |
PhylomeDBi | O75352 |
TreeFami | TF324895 |
Family and domain databases
InterProi | View protein in InterPro IPR016817, MannP-dilichol_defect-1 IPR006603, PQ-loop_rpt |
PANTHERi | PTHR12226, PTHR12226, 1 hit |
Pfami | View protein in Pfam PF04193, PQ-loop, 2 hits |
PIRSFi | PIRSF023381, MannP-dilichol_defect-1p, 1 hit |
SMARTi | View protein in SMART SM00679, CTNS, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O75352-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAEADGPLK RLLVPILLPE KCYDQLFVQW DLLHVPCLKI LLSKGLGLGI
60 70 80 90 100
VAGSLLVKLP QVFKILGAKS AEGLSLQSVM LELVALTGTM VYSITNNFPF
110 120 130 140 150
SSWGEALFLM LQTITICFLV MHYRGQTVKG VAFLACYGLV LLVLLSPLTP
160 170 180 190 200
LTVVTLLQAS NVPAVVVGRL LQAATNYHNG HTGQLSAITV FLLFGGSLAR
210 220 230 240
IFTSIQETGD PLMAGTFVVS SLCNGLIAAQ LLFYWNAKPP HKQKKAQ
Computationally mapped potential isoform sequencesi
There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3QW43 | J3QW43_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 192 | Annotation score: | ||
J3QRD5 | J3QRD5_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 193 | Annotation score: | ||
J3KT75 | J3KT75_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 154 | Annotation score: | ||
J3QQZ4 | J3QQZ4_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 152 | Annotation score: | ||
J3KTK8 | J3KTK8_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 116 | Annotation score: | ||
I3L295 | I3L295_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 109 | Annotation score: | ||
J3QS48 | J3QS48_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 101 | Annotation score: | ||
I3L4E0 | I3L4E0_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 75 | Annotation score: | ||
I3L1D2 | I3L1D2_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 61 | Annotation score: | ||
I3L261 | I3L261_HUMAN | Mannose-P-dolichol utilization defe... | MPDU1 | 61 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 66 | L → R in AAC39875 (PubMed:9653160).Curated | 1 | |
Sequence conflicti | 181 | H → Y in AAC39875 (PubMed:9653160).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021388 | 73 | G → E in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894586EnsemblClinVar. | 1 | |
Natural variantiVAR_021389 | 74 | L → S in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894589EnsemblClinVar. | 1 | |
Natural variantiVAR_021390 | 119 | L → P in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894587EnsemblClinVar. | 1 | |
Natural variantiVAR_047757 | 225 | G → S. Corresponds to variant dbSNP:rs16956808EnsemblClinVar. | 1 | |
Natural variantiVAR_047758 | 229 | A → T1 PublicationCorresponds to variant dbSNP:rs10852891EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056349 | 101 – 186 | SSWGE…TGQLS → RCRFPRLLRPGPAGASLTSD ALDCSHPAPGLQCACCGGGE ASPGSHQLPQRAHRPALSHH SLPAVWGLPGPNLHFHSGVS IPFSQL in isoform 2. 1 PublicationAdd BLAST | 86 | |
Alternative sequenceiVSP_056350 | 187 – 247 | Missing in isoform 2. 1 PublicationAdd BLAST | 61 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF038961 mRNA Translation: AAC39875.1 AK075299 mRNA Translation: BAG52103.1 AK300083 mRNA Translation: BAG61886.1 AC016876 Genomic DNA No translation available. FJ695203 Genomic DNA No translation available. CH471108 Genomic DNA Translation: EAW90161.1 BC001898 mRNA Translation: AAH01898.1 |
CCDSi | CCDS11115.1 [O75352-1] |
RefSeqi | NP_001317002.1, NM_001330073.1 NP_004861.2, NM_004870.3 [O75352-1] |
Genome annotation databases
Ensembli | ENST00000250124; ENSP00000250124; ENSG00000129255 [O75352-1] ENST00000423172; ENSP00000414071; ENSG00000129255 [O75352-2] |
GeneIDi | 9526 |
KEGGi | hsa:9526 |
UCSCi | uc002ghw.4, human [O75352-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF038961 mRNA Translation: AAC39875.1 AK075299 mRNA Translation: BAG52103.1 AK300083 mRNA Translation: BAG61886.1 AC016876 Genomic DNA No translation available. FJ695203 Genomic DNA No translation available. CH471108 Genomic DNA Translation: EAW90161.1 BC001898 mRNA Translation: AAH01898.1 |
CCDSi | CCDS11115.1 [O75352-1] |
RefSeqi | NP_001317002.1, NM_001330073.1 NP_004861.2, NM_004870.3 [O75352-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114902, 24 interactors |
IntActi | O75352, 5 interactors |
STRINGi | 9606.ENSP00000250124 |
PTM databases
iPTMneti | O75352 |
PhosphoSitePlusi | O75352 |
SwissPalmi | O75352 |
Genetic variation databases
BioMutai | MPDU1 |
Proteomic databases
EPDi | O75352 |
jPOSTi | O75352 |
MassIVEi | O75352 |
MaxQBi | O75352 |
PaxDbi | O75352 |
PeptideAtlasi | O75352 |
PRIDEi | O75352 |
ProteomicsDBi | 49919 [O75352-1] 5083 |
TopDownProteomicsi | O75352-1 [O75352-1] |
Protocols and materials databases
Antibodypediai | 12103, 97 antibodies |
DNASUi | 9526 |
Genome annotation databases
Ensembli | ENST00000250124; ENSP00000250124; ENSG00000129255 [O75352-1] ENST00000423172; ENSP00000414071; ENSG00000129255 [O75352-2] |
GeneIDi | 9526 |
KEGGi | hsa:9526 |
UCSCi | uc002ghw.4, human [O75352-1] |
Organism-specific databases
CTDi | 9526 |
DisGeNETi | 9526 |
GeneCardsi | MPDU1 |
HGNCi | HGNC:7207, MPDU1 |
HPAi | ENSG00000129255, Tissue enhanced (liver) |
MalaCardsi | MPDU1 |
MIMi | 604041, gene 609180, phenotype |
neXtProti | NX_O75352 |
OpenTargetsi | ENSG00000129255 |
Orphaneti | 79323, MPDU1-CDG |
PharmGKBi | PA30913 |
VEuPathDBi | HostDB:ENSG00000129255.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3211, Eukaryota |
GeneTreei | ENSGT00940000153916 |
HOGENOMi | CLU_053568_2_0_1 |
InParanoidi | O75352 |
OMAi | IQSCNIP |
OrthoDBi | 895743at2759 |
PhylomeDBi | O75352 |
TreeFami | TF324895 |
Enzyme and pathway databases
PathwayCommonsi | O75352 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-4687000, Defective MPDU1 causes MPDU1-CDG (CDG-1f) |
Miscellaneous databases
BioGRID-ORCSi | 9526, 33 hits in 877 CRISPR screens |
ChiTaRSi | MPDU1, human |
GeneWikii | MPDU1 |
GenomeRNAii | 9526 |
Pharosi | O75352, Tbio |
PROi | PR:O75352 |
RNActi | O75352, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000129255, Expressed in adult mammalian kidney and 200 other tissues |
ExpressionAtlasi | O75352, baseline and differential |
Genevisiblei | O75352, HS |
Family and domain databases
InterProi | View protein in InterPro IPR016817, MannP-dilichol_defect-1 IPR006603, PQ-loop_rpt |
PANTHERi | PTHR12226, PTHR12226, 1 hit |
Pfami | View protein in Pfam PF04193, PQ-loop, 2 hits |
PIRSFi | PIRSF023381, MannP-dilichol_defect-1p, 1 hit |
SMARTi | View protein in SMART SM00679, CTNS, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MPU1_HUMAN | |
Accessioni | O75352Primary (citable) accession number: O75352 Secondary accession number(s): B3KQP1, B4DT74, Q9BUU8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 8, 2000 |
Last sequence update: | November 25, 2008 | |
Last modified: | February 10, 2021 | |
This is version 164 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families