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Aliases for MPDU1 Gene

Aliases for MPDU1 Gene

  • Mannose-P-Dolichol Utilization Defect 1 2 3 5
  • Suppressor Of Lec15 And Lec35 Glycosylation Mutation Homolog 3 4
  • SL15 3 4
  • Mannose-P-Dolichol Utilization Defect 1 Protein 3
  • HBeAg-Binding Protein 2 Binding Protein A 3
  • HBEBP2BPA 3
  • PP3958 3
  • CDGIF 3
  • Lec35 3
  • My008 3
  • PQLC5 3

External Ids for MPDU1 Gene

Previous GeneCards Identifiers for MPDU1 Gene

  • GC17P007901
  • GC17P008227
  • GC17P007429
  • GC17P007687
  • GC17P007427
  • GC17P007486
  • GC17P007381

Summaries for MPDU1 Gene

Entrez Gene Summary for MPDU1 Gene

  • 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]

GeneCards Summary for MPDU1 Gene

MPDU1 (Mannose-P-Dolichol Utilization Defect 1) is a Protein Coding gene. Diseases associated with MPDU1 include Congenital Disorder Of Glycosylation, Type If and Presbyopia. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis.

UniProtKB/Swiss-Prot for MPDU1 Gene

  • Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.

Gene Wiki entry for MPDU1 Gene

Additional gene information for MPDU1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPDU1 Gene

Genomics for MPDU1 Gene

Regulatory Elements for MPDU1 Gene

Enhancers for MPDU1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H007474 1.8 FANTOM5 ENCODE dbSUPER 11 -102.9 -102940 12 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 SSRP1 DVL2 PFAS SNORD10 POLR2A SNORA48 CTC1 KCTD11 NEURL4 CHRNB1 CNTROB
GH17H007613 1 ENCODE 12.9 +31.0 31033 2 HDGF PKNOX1 ATF1 ARID4B SIN3A YY1 GTF3C2 GLIS2 ZNF143 ZNF207 DVL2 SNORD10 PFAS WRAP53 SNORA48 CTC1 TP53 CNTROB ENSG00000265749 TNFSF12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MPDU1 on UCSC Golden Path with GeneCards custom track

Promoters for MPDU1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090881 571 1401 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for MPDU1 Gene

Chromosome:
17
Start:
7,583,529 bp from pter
End:
7,592,789 bp from pter
Size:
9,261 bases
Orientation:
Plus strand

Genomic View for MPDU1 Gene

Genes around MPDU1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPDU1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPDU1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPDU1 Gene

Proteins for MPDU1 Gene

  • Protein details for MPDU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75352-MPU1_HUMAN
    Recommended name:
    Mannose-P-dolichol utilization defect 1 protein
    Protein Accession:
    O75352
    Secondary Accessions:
    • B3KQP1
    • B4DT74
    • Q9BUU8

    Protein attributes for MPDU1 Gene

    Size:
    247 amino acids
    Molecular mass:
    26638 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MPDU1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPDU1 Gene

Post-translational modifications for MPDU1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MPDU1 Gene

Domains & Families for MPDU1 Gene

Gene Families for MPDU1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MPDU1 Gene

Graphical View of Domain Structure for InterPro Entry

O75352

UniProtKB/Swiss-Prot:

MPU1_HUMAN :
  • Belongs to the MPDU1 (TC 2.A.43.3) family.
Family:
  • Belongs to the MPDU1 (TC 2.A.43.3) family.
genes like me logo Genes that share domains with MPDU1: view

Function for MPDU1 Gene

Molecular function for MPDU1 Gene

GENATLAS Biochemistry:
mannose-P-dolichol utilization defect 1,suppressor of,expressed in brain,breast,colon,germcell,heart,kidney,lung,lymph
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MPDU1 Gene

Gene Ontology (GO) - Molecular Function for MPDU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16237761
genes like me logo Genes that share ontologies with MPDU1: view

Phenotypes for MPDU1 Gene

genes like me logo Genes that share phenotypes with MPDU1: view

Human Phenotype Ontology for MPDU1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MPDU1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MPDU1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MPDU1 Gene

Localization for MPDU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPDU1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPDU1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPDU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane NAS 11179430
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with MPDU1: view

Pathways & Interactions for MPDU1 Gene

genes like me logo Genes that share pathways with MPDU1: view

Interacting Proteins for MPDU1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000250124%0d%0a9606.ENSP00000357452%0d%0a9606.ENSP00000206249%0d%0a9606.ENSP00000325120%0d%0a
Selected Interacting proteins: ENSP00000250124 O75352-MPU1_HUMAN for MPDU1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for MPDU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 11179430
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS 11733564
GO:0006810 transport IEA --
GO:0009312 oligosaccharide biosynthetic process IGI 11733564
genes like me logo Genes that share ontologies with MPDU1: view

No data available for SIGNOR curated interactions for MPDU1 Gene

Drugs & Compounds for MPDU1 Gene

No Compound Related Data Available

Transcripts for MPDU1 Gene

Unigene Clusters for MPDU1 Gene

Mannose-P-dolichol utilization defect 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MPDU1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MPDU1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - - -
SP11: - - - - - - -
SP12: - - - - - - - -
SP13: - - - - - -
SP14: -
SP15: -
SP16: -

ExUns: 8d · 8e · 8f · 8g · 8h
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for MPDU1 Gene

GeneLoc Exon Structure for
MPDU1
ECgene alternative splicing isoforms for
MPDU1

Expression for MPDU1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPDU1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MPDU1 Gene



Protein tissue co-expression partners for MPDU1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MPDU1 Gene:

MPDU1

SOURCE GeneReport for Unigene cluster for MPDU1 Gene:

Hs.246381

Evidence on tissue expression from TISSUES for MPDU1 Gene

  • Lung(4.6)
  • Nervous system(4.2)
  • Blood(4.1)
  • Intestine(2.4)
  • Pancreas(2.4)
  • Skin(2.4)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MPDU1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • skull
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with MPDU1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MPDU1 Gene

Orthologs for MPDU1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MPDU1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPDU1 33 34
  • 99.87 (n)
cow
(Bos Taurus)
Mammalia MPDU1 33 34
  • 89.93 (n)
mouse
(Mus musculus)
Mammalia Mpdu1 33 16 34
  • 87.31 (n)
dog
(Canis familiaris)
Mammalia MPDU1 33 34
  • 87.07 (n)
rat
(Rattus norvegicus)
Mammalia Mpdu1 33
  • 86.37 (n)
oppossum
(Monodelphis domestica)
Mammalia MPDU1 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPDU1 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20250 33
zebrafish
(Danio rerio)
Actinopterygii mpdu1b 33
  • 66.25 (n)
mpdu1a 34
  • 42 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1775 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008375 33
  • 58.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3792 35 33 34
  • 56.57 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F38E1.9 33
  • 47.21 (n)
F38E1.9 34 35
  • 38 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G07390 33
  • 45.95 (n)
rice
(Oryza sativa)
Liliopsida Os07g0479200 33
  • 44.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1883 34
  • 51 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU11327 33
  • 47.42 (n)
Species where no ortholog for MPDU1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MPDU1 Gene

ENSEMBL:
Gene Tree for MPDU1 (if available)
TreeFam:
Gene Tree for MPDU1 (if available)

Paralogs for MPDU1 Gene

No data available for Paralogs for MPDU1 Gene

Variants for MPDU1 Gene

Sequence variations from dbSNP and Humsavar for MPDU1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs104894586 Pathogenic, Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180] 7,585,994(+) TGAAG(A/G)GTTGA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs104894587 Pathogenic, Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180] 7,586,745(+) CTTCC(C/T)GGTCA nc-transcript-variant, reference, missense
rs104894589 Pathogenic, Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180] 7,585,997(+) AGGGT(C/T)GAGTC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs104894588 Pathogenic 7,583,864(+) CAATA(C/T)GGCGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs10852891 Likely benign 7,587,492(+) TCGCC(A/G/T)CCCAG nc-transcript-variant, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MPDU1 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781

Variation tolerance for MPDU1 Gene

Residual Variation Intolerance Score: 85.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.03; 84.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPDU1 Gene

Human Gene Mutation Database (HGMD)
MPDU1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPDU1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPDU1 Gene

Disorders for MPDU1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MPDU1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MPDU1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MPU1_HUMAN
  • Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180]: A 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. {ECO:0000269 PubMed:11733556, ECO:0000269 PubMed:11733564}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MPDU1

Genetic Association Database (GAD)
MPDU1
Human Genome Epidemiology (HuGE) Navigator
MPDU1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPDU1
genes like me logo Genes that share disorders with MPDU1: view

No data available for Genatlas for MPDU1 Gene

Publications for MPDU1 Gene

  1. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. (PMID: 11733564) Schenk B … Aebi M (The Journal of clinical investigation 2001) 2 3 4 60
  2. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). (PMID: 11733556) Kranz C … Marquardt T (The Journal of clinical investigation 2001) 3 4 22 60
  3. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 60
  4. A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. (PMID: 22197929) Yu XQ … Liu JJ (Nature genetics 2011) 3 45 60
  5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 45 60

Products for MPDU1 Gene

Sources for MPDU1 Gene

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