Human Gene MPDU1 (uc002ghw.3) Description and Page Index
  Description: Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1), transcript variant 1, mRNA.
RefSeq Summary (NM_004870): This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008].
Transcript (Including UTRs)
   Position: hg19 chr17:7,486,965-7,491,527 Size: 4,563 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr17:7,487,181-7,490,869 Size: 3,689 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:7,486,965-7,491,527)mRNA (may differ from genome)Protein (247 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MPU1_HUMAN
DESCRIPTION: RecName: Full=Mannose-P-dolichol utilization defect 1 protein; AltName: Full=Suppressor of Lec15 and Lec35 glycosylation mutation homolog; Short=SL15;
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).
INTERACTION: O95714:HERC2; NbExp=1; IntAct=EBI-1046501, EBI-1058922; Q15014:MORF4L2; NbExp=1; IntAct=EBI-1046501, EBI-399257; Q15126:PMVK; NbExp=1; IntAct=EBI-1046501, EBI-1055562; Q9H0J4:QRICH2; NbExp=1; IntAct=EBI-1046501, EBI-1053637; P61247:RPS3A; NbExp=1; IntAct=EBI-1046501, EBI-352378; Q15758:SLC1A5; NbExp=1; IntAct=EBI-1046501, EBI-356576;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
DISEASE: Defects in MPDU1 are the cause of congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]. CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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.
SIMILARITY: Belongs to the MPDU1 (TC 2.A.43.3) family.
SIMILARITY: Contains 2 PQ-loop domains.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPDU1";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MPDU1
CDC HuGE Published Literature: MPDU1
Positive Disease Associations: Glomerulonephritis, IGA
Related Studies:
  1. Glomerulonephritis, IGA
    Xue-Qing Yu et al. Nature genetics 2012, A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy., Nature genetics. [PubMed 22197929]

-  MalaCards Disease Associations
  MalaCards Gene Search: MPDU1
Diseases sorted by gene-association score: congenital disorder of glycosylation, type if* (1578), presbyopia (8), eye accommodation disease (6), congenital disorder of glycosylation, type in (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.57 RPKM in Adrenal Gland
Total median expression: 401.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.81216-0.383 Picture PostScript Text
3' UTR -264.80658-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006603 - CTNS
IPR016817 - MannP-dilichol_defect-1

Pfam Domains:
PF04193 - PQ loop repeat

ModBase Predicted Comparative 3D Structure on O75352
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006457 protein folding
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0009312 oligosaccharide biosynthetic process

Cellular Component:
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  KY814480 - Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1) mRNA, complete cds.
KY814481 - Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1) mRNA, complete cds.
LF384756 - JP 2014500723-A/192259: Polycomb-Associated Non-Coding RNAs.
AF059752 - Homo sapiens clone 015e11 My008 protein mRNA, complete cds.
BC001898 - Homo sapiens mannose-P-dolichol utilization defect 1, mRNA (cDNA clone MGC:1967 IMAGE:3536216), complete cds.
AK225401 - Homo sapiens mRNA for mannose-P-dolichol utilization defect 1 variant, clone: HRC05730.
AK075299 - Homo sapiens cDNA FLJ90818 fis, clone Y79AA1001212, highly similar to Mannose-P-dolichol utilization defect 1 protein.
AF038961 - Homo sapiens SL15 protein mRNA, complete cds.
AK027742 - Homo sapiens cDNA FLJ14836 fis, clone OVARC1001702.
AK297691 - Homo sapiens cDNA FLJ57749 complete cds, highly similar to Mannose-P-dolichol utilization defect 1 protein.
AK314527 - Homo sapiens cDNA, FLJ95348, highly similar to Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1), mRNA.
AK297001 - Homo sapiens cDNA FLJ57743 complete cds, highly similar to Mannose-P-dolichol utilization defect 1 protein.
AK225432 - Homo sapiens mRNA for mannose-P-dolichol utilization defect 1 variant, clone: HRC11213.
AK055923 - Homo sapiens cDNA FLJ31361 fis, clone MESAN2008460, highly similar to Homo sapiens SL15 protein mRNA.
AK300083 - Homo sapiens cDNA FLJ57793 complete cds, moderately similar to Mannose-P-dolichol utilization defect 1 protein.
AK300140 - Homo sapiens cDNA FLJ61384 complete cds, highly similar to Mannose-P-dolichol utilization defect 1protein.
CU674920 - Synthetic construct Homo sapiens gateway clone IMAGE:100017621 5' read MPDU1 mRNA.
HQ448685 - Synthetic construct Homo sapiens clone IMAGE:100072127; CCSB003680_02 mannose-P-dolichol utilization defect 1 (MPDU1) gene, encodes complete protein.
KJ898044 - Synthetic construct Homo sapiens clone ccsbBroadEn_07438 MPDU1 gene, encodes complete protein.
KR709838 - Synthetic construct Homo sapiens clone CCSBHm_00006470 MPDU1 (MPDU1) mRNA, encodes complete protein.
KR709839 - Synthetic construct Homo sapiens clone CCSBHm_00006471 MPDU1 (MPDU1) mRNA, encodes complete protein.
KR709840 - Synthetic construct Homo sapiens clone CCSBHm_00006472 MPDU1 (MPDU1) mRNA, encodes complete protein.
KU178478 - Homo sapiens mannose-P-dolichol utilization defect 1 isoform 1 (MPDU1) mRNA, partial cds.
KU178479 - Homo sapiens mannose-P-dolichol utilization defect 1 isoform 2 (MPDU1) mRNA, complete cds, alternatively spliced.
KU178480 - Homo sapiens mannose-P-dolichol utilization defect 1 isoform 4 (MPDU1) mRNA, partial cds, alternatively spliced.
DQ499597 - Homo sapiens HBeAg-binding protein 2 binding protein A (HBEBP2BPA) mRNA, complete cds.
DQ585508 - Homo sapiens piRNA piR-52620, complete sequence.
AF258568 - Homo sapiens PP3958 mRNA, complete cds.
LF326382 - JP 2014500723-A/133885: Polycomb-Associated Non-Coding RNAs.
LF326381 - JP 2014500723-A/133884: Polycomb-Associated Non-Coding RNAs.
JD381360 - Sequence 362384 from Patent EP1572962.
JD290063 - Sequence 271087 from Patent EP1572962.
LF326380 - JP 2014500723-A/133883: Polycomb-Associated Non-Coding RNAs.
JD563648 - Sequence 544672 from Patent EP1572962.
JD219289 - Sequence 200313 from Patent EP1572962.
JD117842 - Sequence 98866 from Patent EP1572962.
JD101324 - Sequence 82348 from Patent EP1572962.
JD323960 - Sequence 304984 from Patent EP1572962.
LF326379 - JP 2014500723-A/133882: Polycomb-Associated Non-Coding RNAs.
JD087971 - Sequence 68995 from Patent EP1572962.
LF326378 - JP 2014500723-A/133881: Polycomb-Associated Non-Coding RNAs.
JD483594 - Sequence 464618 from Patent EP1572962.
JD214338 - Sequence 195362 from Patent EP1572962.
JD214339 - Sequence 195363 from Patent EP1572962.
LF209138 - JP 2014500723-A/16641: Polycomb-Associated Non-Coding RNAs.
MA620333 - JP 2018138019-A/192259: Polycomb-Associated Non-Coding RNAs.
MA561959 - JP 2018138019-A/133885: Polycomb-Associated Non-Coding RNAs.
MA561958 - JP 2018138019-A/133884: Polycomb-Associated Non-Coding RNAs.
MA561957 - JP 2018138019-A/133883: Polycomb-Associated Non-Coding RNAs.
MA561956 - JP 2018138019-A/133882: Polycomb-Associated Non-Coding RNAs.
MA561955 - JP 2018138019-A/133881: Polycomb-Associated Non-Coding RNAs.
MA444715 - JP 2018138019-A/16641: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQP1, MPU1_HUMAN, NM_004870, NP_004861, O75352, Q9BUU8
UCSC ID: uc002ghw.3
RefSeq Accession: NM_004870
Protein: O75352 (aka MPU1_HUMAN)
CCDS: CCDS11115.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MPDU1:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004870.3
exon count: 7CDS single in 3' UTR: no RNA size: 1634
ORF size: 744CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1648.00frame shift in genome: no % Coverage: 99.02
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.