MPDU1 (mannose-P-dolichol utilization defect 1)

2014-11-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
CDGIF,HBEBP2BPA,Lec35,My008,PP3958,PQLC5,SL15,SLC66A5
FUSION GENES

Other Information

Locus ID:

NCBI: 9526
MIM: 604041
HGNC: 7207
Ensembl: ENSG00000129255

Variants:

dbSNP: 9526
ClinVar: 9526
TCGA: ENSG00000129255
COSMIC: MPDU1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129255ENST00000250124O75352
ENSG00000129255ENST00000250124A0A0S2Z4W8
ENSG00000129255ENST00000359822I3L1D2
ENSG00000129255ENST00000396501J3QW43
ENSG00000129255ENST00000423172O75352
ENSG00000129255ENST00000570458I3L261
ENSG00000129255ENST00000571822I3L1D2
ENSG00000129255ENST00000572719I3L295
ENSG00000129255ENST00000572936I3L1D2
ENSG00000129255ENST00000574558I3L4T1
ENSG00000129255ENST00000576066I3L4E0
ENSG00000129255ENST00000576272I3L405
ENSG00000129255ENST00000579445J3QRD5
ENSG00000129255ENST00000580708J3QS48
ENSG00000129255ENST00000580834I3L295
ENSG00000129255ENST00000581380J3QQZ4
ENSG00000129255ENST00000582151J3KSI4
ENSG00000129255ENST00000584378J3KT75
ENSG00000129255ENST00000584479I3L295
ENSG00000129255ENST00000585217J3KTK8

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
296711162018MPDU1 regulates CEACAM1 and cell adhesion in vitro and in vivo.0
296711162018MPDU1 regulates CEACAM1 and cell adhesion in vitro and in vivo.0
223635042012Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking.29
223635042012Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking.29
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.30
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.30
191701962009Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.11
196251762009PTEN identified as important risk factor of chronic obstructive pulmonary disease.17
191701962009Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.11
196251762009PTEN identified as important risk factor of chronic obstructive pulmonary disease.17
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.36
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.36

Citation

Dessen P

MPDU1 (mannose-P-dolichol utilization defect 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70387/case-report-explorer/css/lib/haematological-explorer/