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Protein

Mannose-P-dolichol utilization defect 1 protein

Gene

MPDU1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 processTransport

Enzyme and pathway databases

ReactomeiR-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 protein
Alternative name(s):
Suppressor of Lec15 and Lec35 glycosylation mutation homolog
Short name:
SL15
Gene namesi
Name:MPDU1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000129255.14
HGNCiHGNC:7207 MPDU1
MIMi604041 gene
neXtProtiNX_O75352

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei37 – 57HelicalSequence analysisAdd BLAST21
Transmembranei74 – 94HelicalSequence analysisAdd BLAST21
Transmembranei100 – 120HelicalSequence analysisAdd BLAST21
Transmembranei128 – 145HelicalSequence analysisAdd BLAST18
Transmembranei151 – 171HelicalSequence analysisAdd BLAST21
Transmembranei185 – 205HelicalSequence analysisAdd BLAST21
Transmembranei213 – 233HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1F (CDG1F)2 Publications
The disease is caused by mutations 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.
See also OMIM:609180
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02138873G → E in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894586EnsemblClinVar.1
Natural variantiVAR_02138974L → S in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894589EnsemblClinVar.1
Natural variantiVAR_021390119L → P in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894587EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi9526
MalaCardsiMPDU1
MIMi609180 phenotype
OpenTargetsiENSG00000129255
Orphaneti79323 MPDU1-CDG
PharmGKBiPA30913

Polymorphism and mutation databases

BioMutaiMPDU1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002210342 – 247Mannose-P-dolichol utilization defect 1 proteinAdd BLAST246

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO75352
MaxQBiO75352
PaxDbiO75352
PeptideAtlasiO75352
PRIDEiO75352
ProteomicsDBi49919
TopDownProteomicsiO75352-1 [O75352-1]

PTM databases

iPTMnetiO75352
PhosphoSitePlusiO75352
SwissPalmiO75352

Expressioni

Gene expression databases

BgeeiENSG00000129255 Expressed in 184 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_MPDU1
ExpressionAtlasiO75352 baseline and differential
GenevisibleiO75352 HS

Organism-specific databases

HPAiHPA014845

Interactioni

Protein-protein interaction databases

BioGridi114902, 10 interactors
IntActiO75352, 5 interactors
STRINGi9606.ENSP00000250124

Structurei

3D structure databases

ProteinModelPortaliO75352
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini39 – 105PQ-loop 1Add BLAST67
Domaini159 – 216PQ-loop 2Add BLAST58

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3211 Eukaryota
ENOG4111FE3 LUCA
GeneTreeiENSGT00510000047079
HOGENOMiHOG000189346
HOVERGENiHBG000421
InParanoidiO75352
KOiK09660
OMAiIQSCNIP
PhylomeDBiO75352
TreeFamiTF324895

Family and domain databases

InterProiView protein in InterPro
IPR016817 MannP-dilichol_defect-1
IPR006603 PQ-loop_rpt
PANTHERiPTHR12226 PTHR12226, 1 hit
PfamiView protein in Pfam
PF04193 PQ-loop, 2 hits
PIRSFiPIRSF023381 MannP-dilichol_defect-1p, 1 hit
SMARTiView protein in SMART
SM00679 CTNS, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:247
Mass (Da):26,638
Last modified:November 25, 2008 - v2
Checksum:i8C840B26F06DFD9B
GO
Isoform 2 (identifier: O75352-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-186: SSWGEALFLM...YHNGHTGQLS → RCRFPRLLRP...SGVSIPFSQL
     187-247: Missing.

Note: No experimental confirmation available.
Show »
Length:186
Mass (Da):19,752
Checksum:i5B5E26595ECF5692
GO

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QRD5J3QRD5_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
193Annotation score:
J3QW43J3QW43_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
192Annotation score:
I3L295I3L295_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
109Annotation score:
J3QS48J3QS48_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
101Annotation score:
J3KT75J3KT75_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
154Annotation score:
J3KTK8J3KTK8_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
116Annotation score:
J3QQZ4J3QQZ4_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
152Annotation score:
I3L1D2I3L1D2_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
61Annotation score:
I3L405I3L405_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
54Annotation score:
I3L261I3L261_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
61Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti66L → R in AAC39875 (PubMed:9653160).Curated1
Sequence conflicti181H → Y in AAC39875 (PubMed:9653160).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02138873G → E in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894586EnsemblClinVar.1
Natural variantiVAR_02138974L → S in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894589EnsemblClinVar.1
Natural variantiVAR_021390119L → P in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894587EnsemblClinVar.1
Natural variantiVAR_047757225G → S. Corresponds to variant dbSNP:rs16956808EnsemblClinVar.1
Natural variantiVAR_047758229A → T1 PublicationCorresponds to variant dbSNP:rs10852891EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056349101 – 186SSWGE…TGQLS → RCRFPRLLRPGPAGASLTSD ALDCSHPAPGLQCACCGGGE ASPGSHQLPQRAHRPALSHH SLPAVWGLPGPNLHFHSGVS IPFSQL in isoform 2. 1 PublicationAdd BLAST86
Alternative sequenceiVSP_056350187 – 247Missing in isoform 2. 1 PublicationAdd BLAST61

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
CCDSiCCDS11115.1 [O75352-1]
RefSeqiNP_001317002.1, NM_001330073.1
NP_004861.2, NM_004870.3 [O75352-1]
UniGeneiHs.246381

Genome annotation databases

EnsembliENST00000250124; ENSP00000250124; ENSG00000129255 [O75352-1]
ENST00000423172; ENSP00000414071; ENSG00000129255 [O75352-2]
GeneIDi9526
KEGGihsa:9526
UCSCiuc002ghw.4 human [O75352-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS11115.1 [O75352-1]
RefSeqiNP_001317002.1, NM_001330073.1
NP_004861.2, NM_004870.3 [O75352-1]
UniGeneiHs.246381

3D structure databases

ProteinModelPortaliO75352
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114902, 10 interactors
IntActiO75352, 5 interactors
STRINGi9606.ENSP00000250124

PTM databases

iPTMnetiO75352
PhosphoSitePlusiO75352
SwissPalmiO75352

Polymorphism and mutation databases

BioMutaiMPDU1

Proteomic databases

EPDiO75352
MaxQBiO75352
PaxDbiO75352
PeptideAtlasiO75352
PRIDEiO75352
ProteomicsDBi49919
TopDownProteomicsiO75352-1 [O75352-1]

Protocols and materials databases

DNASUi9526
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000250124; ENSP00000250124; ENSG00000129255 [O75352-1]
ENST00000423172; ENSP00000414071; ENSG00000129255 [O75352-2]
GeneIDi9526
KEGGihsa:9526
UCSCiuc002ghw.4 human [O75352-1]

Organism-specific databases

CTDi9526
DisGeNETi9526
EuPathDBiHostDB:ENSG00000129255.14
GeneCardsiMPDU1
H-InvDBiHIX0013504
HGNCiHGNC:7207 MPDU1
HPAiHPA014845
MalaCardsiMPDU1
MIMi604041 gene
609180 phenotype
neXtProtiNX_O75352
OpenTargetsiENSG00000129255
Orphaneti79323 MPDU1-CDG
PharmGKBiPA30913
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3211 Eukaryota
ENOG4111FE3 LUCA
GeneTreeiENSGT00510000047079
HOGENOMiHOG000189346
HOVERGENiHBG000421
InParanoidiO75352
KOiK09660
OMAiIQSCNIP
PhylomeDBiO75352
TreeFamiTF324895

Enzyme and pathway databases

ReactomeiR-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

ChiTaRSiMPDU1 human
GeneWikiiMPDU1
GenomeRNAii9526
PROiPR:O75352
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129255 Expressed in 184 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_MPDU1
ExpressionAtlasiO75352 baseline and differential
GenevisibleiO75352 HS

Family and domain databases

InterProiView protein in InterPro
IPR016817 MannP-dilichol_defect-1
IPR006603 PQ-loop_rpt
PANTHERiPTHR12226 PTHR12226, 1 hit
PfamiView protein in Pfam
PF04193 PQ-loop, 2 hits
PIRSFiPIRSF023381 MannP-dilichol_defect-1p, 1 hit
SMARTiView protein in SMART
SM00679 CTNS, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiMPU1_HUMAN
AccessioniPrimary (citable) accession number: O75352
Secondary accession number(s): B3KQP1, B4DT74, Q9BUU8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 8, 2000
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 150 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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