MPDU1 (mannose-P-dolichol utilization defect 1)

2014-11-01  

Identity

HGNC
MPDU1
LOCATION
17p13.1
LOCUSID
9526
ALIAS
CDGIF,HBEBP2BPA,Lec35,My008,PP3958,PQLC5,SL15,SLC66A5
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/