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O75352 (MPU1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mannose-P-dolichol utilization defect 1 protein
Alternative name(s):
Suppressor of Lec15 and Lec35 glycosylation mutation homolog
Short name=SL15
Gene names
Name:MPDU1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length247 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10

Sequence similarities

Belongs to the MPDU1 (TC 2.A.43.3) family. [View classification]

Contains 2 PQ-loop domains.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 247246Mannose-P-dolichol utilization defect 1 protein
PRO_0000221034

Regions

Transmembrane37 – 5721Helical; Potential
Transmembrane74 – 9421Helical; Potential
Transmembrane100 – 12021Helical; Potential
Transmembrane128 – 14518Helical; Potential
Transmembrane151 – 17121Helical; Potential
Transmembrane185 – 20521Helical; Potential
Transmembrane213 – 23321Helical; Potential
Domain39 – 10567PQ-loop 1
Domain159 – 21658PQ-loop 2

Amino acid modifications

Modified residue21N-acetylalanine Ref.6 Ref.8

Natural variations

Natural variant731G → E in CDG1F. Ref.10
VAR_021388
Natural variant741L → S in CDG1F. Ref.9
VAR_021389
Natural variant1191L → P in CDG1F. Ref.10
VAR_021390
Natural variant2251G → S.
Corresponds to variant rs16956808 [ dbSNP | Ensembl ].
VAR_047757
Natural variant2291A → T. Ref.5
Corresponds to variant rs10852891 [ dbSNP | Ensembl ].
VAR_047758

Experimental info

Sequence conflict661L → R in AAC39875. Ref.1
Sequence conflict1811H → Y in AAC39875. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O75352 [UniParc].

Last modified November 25, 2008. Version 2.
Checksum: 8C840B26F06DFD9B

FASTA24726,638
        10         20         30         40         50         60 
MAAEADGPLK RLLVPILLPE KCYDQLFVQW DLLHVPCLKI LLSKGLGLGI VAGSLLVKLP 

        70         80         90        100        110        120 
QVFKILGAKS AEGLSLQSVM LELVALTGTM VYSITNNFPF SSWGEALFLM LQTITICFLV 

       130        140        150        160        170        180 
MHYRGQTVKG VAFLACYGLV LLVLLSPLTP LTVVTLLQAS NVPAVVVGRL LQAATNYHNG 

       190        200        210        220        230        240 
HTGQLSAITV FLLFGGSLAR IFTSIQETGD PLMAGTFVVS SLCNGLIAAQ LLFYWNAKPP 


HKQKKAQ 

« Hide

References

« Hide 'large scale' references
[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].
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. expand/collapse author list , 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].
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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], 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)."
Kranz C., Denecke J., Lehrman M.A., Ray S., Kienz P., Kreissel G., Sagi D., Peter-Katalinic J., Freeze H.H., Schmid T., Jackowski-Dohrmann S., Harms E., Marquardt T.
J. Clin. Invest. 108:1613-1619(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDG1F SER-74.
[10]"MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If."
Schenk B., Imbach T., Frank C.G., Grubenmann C.E., Raymond G.V., Hurvitz H., Raas-Rotschild A., Luder A.S., Jaeken J., Berger E.G., Matthijs G., Hennet T., Aebi M.
J. Clin. Invest. 108:1687-1695(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDG1F GLU-73 AND PRO-119.
[11]Erratum
Schenk B., Imbach T., Frank C.G., Grubenmann C.E., Raymond G.V., Hurvitz H., Korn-Lubetzki I., Revel-Vik S., Raas-Rotschild A., Luder A.S., Jaeken J., Berger E.G., Matthijs G., Hennet T., Aebi M.
J. Clin. Invest. 111:925-925(2001)
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF038961 mRNA. Translation: AAC39875.1.
AK075299 mRNA. Translation: BAG52103.1.
AC016876 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW90161.1.
BC001898 mRNA. Translation: AAH01898.1.
CCDSCCDS11115.1.
RefSeqNP_004861.2. NM_004870.3.
UniGeneHs.246381.

3D structure databases

ProteinModelPortalO75352.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114902. 10 interactions.
STRING9606.ENSP00000250124.

Proteomic databases

MaxQBO75352.
PaxDbO75352.
PRIDEO75352.

Protocols and materials databases

DNASU9526.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000250124; ENSP00000250124; ENSG00000129255.
GeneID9526.
KEGGhsa:9526.
UCSCuc002ghw.3. human.

Organism-specific databases

CTD9526.
GeneCardsGC17P007486.
H-InvDBHIX0013504.
HGNCHGNC:7207. MPDU1.
HPAHPA014845.
MIM604041. gene.
609180. phenotype.
neXtProtNX_O75352.
Orphanet79323. MPDU1-CDG.
PharmGKBPA30913.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG236647.
HOGENOMHOG000189346.
HOVERGENHBG000421.
KOK09660.
OMAQTVTICF.
PhylomeDBO75352.
TreeFamTF324895.

Gene expression databases

ArrayExpressO75352.
BgeeO75352.
CleanExHS_MPDU1.
GenevestigatorO75352.

Family and domain databases

InterProIPR016817. MannP-dilichol_defect-1.
IPR006603. PQ-loop_rpt.
[Graphical view]
PANTHERPTHR12226. PTHR12226. 1 hit.
PfamPF04193. PQ-loop. 2 hits.
[Graphical view]
PIRSFPIRSF023381. MannP-dilichol_defect-1p. 1 hit.
SMARTSM00679. CTNS. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMPDU1. human.
GeneWikiMPDU1.
GenomeRNAi9526.
NextBio35704.
PROO75352.
SOURCESearch...

Entry information

Entry nameMPU1_HUMAN
AccessionPrimary (citable) accession number: O75352
Secondary accession number(s): B3KQP1, Q9BUU8
Entry history
Integrated into UniProtKB/Swiss-Prot: December 8, 2000
Last sequence update: November 25, 2008
Last modified: July 9, 2014
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM