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O75352

- MPU1_HUMAN

UniProt

O75352 - MPU1_HUMAN

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Protein

Mannose-P-dolichol utilization defect 1 protein

Gene

MPDU1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. dolichol-linked oligosaccharide biosynthetic process Source: UniProtKB
  2. oligosaccharide biosynthetic process Source: UniProtKB
  3. protein folding Source: UniProtKB
  4. transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_22433. 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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:7207. MPDU1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei37 – 5721HelicalSequence AnalysisAdd
BLAST
Transmembranei74 – 9421HelicalSequence AnalysisAdd
BLAST
Transmembranei100 – 12021HelicalSequence AnalysisAdd
BLAST
Transmembranei128 – 14518HelicalSequence AnalysisAdd
BLAST
Transmembranei151 – 17121HelicalSequence AnalysisAdd
BLAST
Transmembranei185 – 20521HelicalSequence AnalysisAdd
BLAST
Transmembranei213 – 23321HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: HPA
  2. endoplasmic reticulum membrane Source: UniProtKB
  3. extracellular vesicular exosome Source: UniProt
  4. integral component of membrane Source: UniProtKB-KW
  5. membrane Source: UniProtKB
  6. mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180]: 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731G → E in CDG1F. 1 Publication
VAR_021388
Natural varianti74 – 741L → S in CDG1F. 1 Publication
VAR_021389
Natural varianti119 – 1191L → P in CDG1F. 1 Publication
VAR_021390

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

MIMi609180. phenotype.
Orphaneti79323. MPDU1-CDG.
PharmGKBiPA30913.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 247246Mannose-P-dolichol utilization defect 1 proteinPRO_0000221034Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine2 Publications

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO75352.
PaxDbiO75352.
PRIDEiO75352.

Expressioni

Gene expression databases

BgeeiO75352.
CleanExiHS_MPDU1.
ExpressionAtlasiO75352. baseline and differential.
GenevestigatoriO75352.

Organism-specific databases

HPAiHPA014845.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
HERC2O957141EBI-1046501,EBI-1058922
MORF4L2Q150141EBI-1046501,EBI-399257
PMVKQ151261EBI-1046501,EBI-1055562
QRICH2Q9H0J41EBI-1046501,EBI-1053637
RPS3AP612471EBI-1046501,EBI-352378
SLC1A5Q157581EBI-1046501,EBI-356576

Protein-protein interaction databases

BioGridi114902. 10 interactions.
STRINGi9606.ENSP00000250124.

Structurei

3D structure databases

ProteinModelPortaliO75352.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini39 – 10567PQ-loop 1Add
BLAST
Domaini159 – 21658PQ-loop 2Add
BLAST

Sequence similaritiesi

Contains 2 PQ-loop domains.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG236647.
GeneTreeiENSGT00510000047079.
HOGENOMiHOG000189346.
HOVERGENiHBG000421.
InParanoidiO75352.
KOiK09660.
OMAiQTVTICF.
PhylomeDBiO75352.
TreeFamiTF324895.

Family and domain databases

InterProiIPR016817. MannP-dilichol_defect-1.
IPR006603. PQ-loop_rpt.
[Graphical view]
PANTHERiPTHR12226. PTHR12226. 1 hit.
PfamiPF04193. PQ-loop. 1 hit.
[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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti66 – 661L → R in AAC39875. (PubMed:9653160)Curated
Sequence conflicti181 – 1811H → Y in AAC39875. (PubMed:9653160)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731G → E in CDG1F. 1 Publication
VAR_021388
Natural varianti74 – 741L → S in CDG1F. 1 Publication
VAR_021389
Natural varianti119 – 1191L → P in CDG1F. 1 Publication
VAR_021390
Natural varianti225 – 2251G → S.
Corresponds to variant rs16956808 [ dbSNP | Ensembl ].
VAR_047757
Natural varianti229 – 2291A → T.1 Publication
Corresponds to variant rs10852891 [ dbSNP | Ensembl ].
VAR_047758

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei101 – 18686SSWGE…TGQLS → RCRFPRLLRPGPAGASLTSD ALDCSHPAPGLQCACCGGGE ASPGSHQLPQRAHRPALSHH SLPAVWGLPGPNLHFHSGVS IPFSQL in isoform 2. 1 PublicationVSP_056349Add
BLAST
Alternative sequencei187 – 24761Missing in isoform 2. 1 PublicationVSP_056350Add
BLAST

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_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.3. 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 .
CCDSi CCDS11115.1. [O75352-1 ]
RefSeqi NP_004861.2. NM_004870.3. [O75352-1 ]
UniGenei Hs.246381.

3D structure databases

ProteinModelPortali O75352.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114902. 10 interactions.
STRINGi 9606.ENSP00000250124.

Proteomic databases

MaxQBi O75352.
PaxDbi O75352.
PRIDEi O75352.

Protocols and materials databases

DNASUi 9526.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000250124 ; ENSP00000250124 ; ENSG00000129255 . [O75352-1 ]
ENST00000423172 ; ENSP00000414071 ; ENSG00000129255 . [O75352-2 ]
GeneIDi 9526.
KEGGi hsa:9526.
UCSCi uc002ghw.3. human. [O75352-1 ]

Organism-specific databases

CTDi 9526.
GeneCardsi GC17P007486.
H-InvDB HIX0013504.
HGNCi HGNC:7207. MPDU1.
HPAi HPA014845.
MIMi 604041. gene.
609180. phenotype.
neXtProti NX_O75352.
Orphaneti 79323. MPDU1-CDG.
PharmGKBi PA30913.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG236647.
GeneTreei ENSGT00510000047079.
HOGENOMi HOG000189346.
HOVERGENi HBG000421.
InParanoidi O75352.
KOi K09660.
OMAi QTVTICF.
PhylomeDBi O75352.
TreeFami TF324895.

Enzyme and pathway databases

Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

ChiTaRSi MPDU1. human.
GeneWikii MPDU1.
GenomeRNAii 9526.
NextBioi 35474857.
PROi O75352.
SOURCEi Search...

Gene expression databases

Bgeei O75352.
CleanExi HS_MPDU1.
ExpressionAtlasi O75352. baseline and differential.
Genevestigatori O75352.

Family and domain databases

InterProi IPR016817. MannP-dilichol_defect-1.
IPR006603. PQ-loop_rpt.
[Graphical view ]
PANTHERi PTHR12226. PTHR12226. 1 hit.
Pfami PF04193. PQ-loop. 1 hit.
[Graphical view ]
PIRSFi PIRSF023381. MannP-dilichol_defect-1p. 1 hit.
SMARTi SM00679. CTNS. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning."
    Mao M., Fu G., Wu J.-S., Zhang Q.-H., Zhou J., Kan L.-X., Huang Q.-H., He K.-L., Gu B.-W., Han Z.-G., Shen Y., Gu J., Yu Y.-P., Xu S.-H., Wang Y.-X., Chen S.-J., Chen Z.
    Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Umbilical cord blood.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Pericardium.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-229.
    Tissue: Lung.
  6. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: VARIANT CDG1F SER-74.
  10. Cited for: VARIANTS CDG1F GLU-73 AND PRO-119.

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 26, 2014
This is version 114 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

External Data

Dasty 3