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O75352

- MPU1_HUMAN

UniProt

O75352 - MPU1_HUMAN

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
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    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

    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

    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

    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

    ArrayExpressiO75352.
    BgeeiO75352.
    CleanExiHS_MPDU1.
    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...

    Transmembrane

    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

    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.
    HOGENOMiHOG000189346.
    HOVERGENiHBG000421.
    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. 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. 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

    MAAEADGPLK RLLVPILLPE KCYDQLFVQW DLLHVPCLKI LLSKGLGLGI    50
    VAGSLLVKLP QVFKILGAKS AEGLSLQSVM LELVALTGTM VYSITNNFPF 100
    SSWGEALFLM LQTITICFLV MHYRGQTVKG VAFLACYGLV LLVLLSPLTP 150
    LTVVTLLQAS NVPAVVVGRL LQAATNYHNG HTGQLSAITV FLLFGGSLAR 200
    IFTSIQETGD PLMAGTFVVS SLCNGLIAAQ LLFYWNAKPP HKQKKAQ 247
    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:
    EMBL
    GenBank
    DDBJ
    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.
    RefSeqiNP_004861.2. NM_004870.3.
    UniGeneiHs.246381.

    Genome annotation databases

    EnsembliENST00000250124; ENSP00000250124; ENSG00000129255.
    ENST00000423172; ENSP00000414071; ENSG00000129255.
    GeneIDi9526.
    KEGGihsa:9526.
    UCSCiuc002ghw.3. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    RefSeqi NP_004861.2. NM_004870.3.
    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 .
    ENST00000423172 ; ENSP00000414071 ; ENSG00000129255 .
    GeneIDi 9526.
    KEGGi hsa:9526.
    UCSCi uc002ghw.3. human.

    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.
    HOGENOMi HOG000189346.
    HOVERGENi HBG000421.
    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 35704.
    PROi O75352.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75352.
    Bgeei O75352.
    CleanExi HS_MPDU1.
    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. 2 hits.
    [Graphical view ]
    PIRSFi PIRSF023381. MannP-dilichol_defect-1p. 1 hit.
    SMARTi SM00679. CTNS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 112 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