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Protein

Mannose-P-dolichol utilization defect 1 protein

Gene

MPDU1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000129255-MONOMER.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

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

HGNCiHGNC:7207. MPDU1.

Subcellular locationi

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

GO - Cellular componenti

  • endoplasmic reticulum Source: HPA
  • endoplasmic reticulum membrane Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • mitochondrion Source: HPA
Complete GO annotation...

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 rs104894586dbSNPEnsembl.1
Natural variantiVAR_02138974L → S in CDG1F. 1 PublicationCorresponds to variant rs104894589dbSNPEnsembl.1
Natural variantiVAR_021390119L → P in CDG1F. 1 PublicationCorresponds to variant rs104894587dbSNPEnsembl.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.
TopDownProteomicsiO75352-1. [O75352-1]

PTM databases

iPTMnetiO75352.
PhosphoSitePlusiO75352.
SwissPalmiO75352.

Expressioni

Gene expression databases

BgeeiENSG00000129255.
CleanExiHS_MPDU1.
ExpressionAtlasiO75352. baseline and differential.
GenevisibleiO75352. HS.

Organism-specific databases

HPAiHPA014845.

Interactioni

Protein-protein interaction databases

BioGridi114902. 10 interactors.
IntActiO75352. 1 interactor.
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

Contains 2 PQ-loop domains.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR016817. MannP-dilichol_defect-1.
IPR006603. PQ-loop_rpt.
[Graphical view]
PANTHERiPTHR12226. PTHR12226. 1 hit.
PfamiPF04193. PQ-loop. 2 hits.
[Graphical view]
PIRSFiPIRSF023381. MannP-dilichol_defect-1p. 1 hit.
SMARTiSM00679. CTNS. 2 hits.
[Graphical view]

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

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

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 rs104894586dbSNPEnsembl.1
Natural variantiVAR_02138974L → S in CDG1F. 1 PublicationCorresponds to variant rs104894589dbSNPEnsembl.1
Natural variantiVAR_021390119L → P in CDG1F. 1 PublicationCorresponds to variant rs104894587dbSNPEnsembl.1
Natural variantiVAR_047757225G → S.Corresponds to variant rs16956808dbSNPEnsembl.1
Natural variantiVAR_047758229A → T.1 PublicationCorresponds to variant rs10852891dbSNPEnsembl.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

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. 1 interactor.
STRINGi9606.ENSP00000250124.

PTM databases

iPTMnetiO75352.
PhosphoSitePlusiO75352.
SwissPalmiO75352.

Polymorphism and mutation databases

BioMutaiMPDU1.

Proteomic databases

EPDiO75352.
MaxQBiO75352.
PaxDbiO75352.
PeptideAtlasiO75352.
PRIDEiO75352.
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.
GeneCardsiMPDU1.
H-InvDBHIX0013504.
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.
PhylomeDBiO75352.
TreeFamiTF324895.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000129255-MONOMER.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

ChiTaRSiMPDU1. human.
GeneWikiiMPDU1.
GenomeRNAii9526.
PROiO75352.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129255.
CleanExiHS_MPDU1.
ExpressionAtlasiO75352. baseline and differential.
GenevisibleiO75352. HS.

Family and domain databases

InterProiIPR016817. MannP-dilichol_defect-1.
IPR006603. PQ-loop_rpt.
[Graphical view]
PANTHERiPTHR12226. PTHR12226. 1 hit.
PfamiPF04193. PQ-loop. 2 hits.
[Graphical view]
PIRSFiPIRSF023381. MannP-dilichol_defect-1p. 1 hit.
SMARTiSM00679. CTNS. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMPU1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 135 of the entry and version 2 of the sequence. [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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.