MPDU1 (mannose-P-dolichol utilization defect 1)

2014-11-01 Affiliation

Identity

HGNC

MPDU1

LOCATION

17p13.1

LOCUSID

9526

ALIAS

CDGIF,HBEBP2BPA,Lec35,My008,PP3958,PQLC5,SL15,SLC66A5

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000129255	ENST00000250124	O75352
ENSG00000129255	ENST00000250124	A0A0S2Z4W8
ENSG00000129255	ENST00000359822	I3L1D2
ENSG00000129255	ENST00000396501	J3QW43
ENSG00000129255	ENST00000423172	O75352
ENSG00000129255	ENST00000570458	I3L261
ENSG00000129255	ENST00000571822	I3L1D2
ENSG00000129255	ENST00000572719	I3L295
ENSG00000129255	ENST00000572936	I3L1D2
ENSG00000129255	ENST00000574558	I3L4T1
ENSG00000129255	ENST00000576066	I3L4E0
ENSG00000129255	ENST00000576272	I3L405
ENSG00000129255	ENST00000579445	J3QRD5
ENSG00000129255	ENST00000580708	J3QS48
ENSG00000129255	ENST00000580834	I3L295
ENSG00000129255	ENST00000581380	J3QQZ4
ENSG00000129255	ENST00000582151	J3KSI4
ENSG00000129255	ENST00000584378	J3KT75
ENSG00000129255	ENST00000584479	I3L295
ENSG00000129255	ENST00000585217	J3KTK8

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18676680	2008	Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.	32
19692168	2010	Genetic susceptibility to distinct bladder cancer subphenotypes.	25
22363504	2012	Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking.	16
19625176	2009	PTEN identified as important risk factor of chronic obstructive pulmonary disease.	12
19170196	2009	Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.	5
29671116	2018	MPDU1 regulates CEACAM1 and cell adhesion in vitro and in vivo.	0

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/mpdu1-(mannose-p-dolichol-utilization-defect-1)