EDEM1 (ER degradation enhancing alpha-mannosidase like protein 1)

2007-02-01 Affiliation

Identity

HGNC

EDEM1

LOCATION

3p26.1

LOCUSID

9695

ALIAS

EDEM

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: 9695
MIM: 607673
HGNC: 18967
Ensembl: ENSG00000134109

Variants:

dbSNP: 9695
ClinVar: 9695
TCGA: ENSG00000134109
COSMIC: EDEM1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134109	ENST00000256497	Q92611
ENSG00000134109	ENST00000256497	A0A024R2D5
ENSG00000134109	ENST00000434243	F8WER9
ENSG00000134109	ENST00000443790	F8WE67
ENSG00000134109	ENST00000445686	Q92611

Expression (GTEx)

100

150

200

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
Protein processing in endoplasmic reticulum	KEGG	ko04141
Protein processing in endoplasmic reticulum	KEGG	hsa04141
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	REACTOME	R-HSA-532668
Calnexin/calreticulin cycle	REACTOME	R-HSA-901042
ER Quality Control Compartment (ERQC)	REACTOME	R-HSA-901032
Unfolded Protein Response (UPR)	REACTOME	R-HSA-381119
IRE1alpha activates chaperones	REACTOME	R-HSA-381070
XBP1(S) activates chaperone genes	REACTOME	R-HSA-381038

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12610306	2003	Role of EDEM in the release of misfolded glycoproteins from the calnexin cycle.	135
19524542	2009	EDEM1 recognition and delivery of misfolded proteins to the SEL1L-containing ERAD complex.	68
15579471	2005	A novel stress-induced EDEM variant regulating endoplasmic reticulum-associated glycoprotein degradation.	59
18452703	2008	Segregation and rapid turnover of EDEM1 by an autophagy-like mechanism modulates standard ERAD and folding activities.	59
20065073	2010	EDEM1 accelerates the trimming of alpha1,2-linked mannose on the C branch of N-glycans.	42
19934218	2009	A dual role for EDEM1 in the processing of rod opsin.	37
17360537	2007	EDEM1 reveals a quality control vesicular transport pathway out of the endoplasmic reticulum not involving the COPII exit sites.	36
16629899	2006	EDEM accelerates ERAD by preventing aberrant dimer formation of misfolded alpha1-antitrypsin.	33
21062743	2011	Mannose trimming is required for delivery of a glycoprotein from EDEM1 to XTP3-B and to late endoplasmic reticulum-associated degradation steps.	25
21917589	2011	Bypass of glycan-dependent glycoprotein delivery to ERAD by up-regulated EDEM1.	25

Citation

Dessen P

EDEM1 (ER degradation enhancing alpha-mannosidase like protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45857/edem1-(er-degradation-enhancing-alpha-mannosidase-like-protein-1)