EDEM1 - ER degradation enhancing alpha-mannosidase like protein 1 Gene

Homo sapiens

Also known as EDEM

Gene ID: 9695 | Gene type: protein coding

About EDEM1

Cytogenetic location: 3p26.1 Genomic coordinates (GRCh38): 3:5,187,707-5,219,958 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues and 6 paralogues. Ubiquitous expression in bone marrow (RPKM 22.7), lymph node (RPKM 21.0) and 25 other tissues.

Summary

Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and misfolded protein binding activity. Involved in mannose trimming involved in glycoprotein ERAD pathway; positive regulation of retrograde protein transport, ER to cytosol; and protein targeting to ER. Located in aggresome and endoplasmic reticulum quality control compartment. [provided by Alliance of Genome Resources, Apr 2022]

EDEM1 Products(1)

mRNA	Protein	Name
NM_014674.3	NP_055489.1	ER degradation-enhancing alpha-mannosidase-like protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA IDA: Inferred from direct assay	12610306	GOA
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP IMP: Inferred from mutant phenotype	25092655	GOA
enables misfolded protein binding	IDA IDA: Inferred from direct assay	19524542	GOA
enables misfolded protein binding	IMP IMP: Inferred from mutant phenotype	23233672	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16449189	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	21062743	GOA
involved in mannoprotein catabolic process	IMP IMP: Inferred from mutant phenotype	25092655	GOA
involved in positive regulation of retrograde protein transport, ER to cytosol	IGI IGI: Inferred from genetic interaction	24200403	GOA
involved in positive regulation of retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	24200403	GOA
involved in protein targeting to ER	IMP IMP: Inferred from mutant phenotype	23233672	GOA
involved in ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	25092655	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	24200403	GOA
located in endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	21062743	GOA
located in endoplasmic reticulum quality control compartment	IDA IDA: Inferred from direct assay	23233672	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EDEM1 Protein Structure

Glyco_hydro_47

0
200
400
600
657 a.a.

Protein Preferred Names

Protein Names

ER degradation-enhancing alpha-mannosidase-like protein 1

ER degradation enhancer, mannosidase alpha-like 1

Related Diseases

Diseases

Alias

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma	Adult Hepatoma
Adult Hcc

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-131986	LASSBio-1135	Antagonist	99.05%	Unkown
HY-RS04157	EDEM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EDEM1	VGNC	VGNC:40194
Bos taurus	EDEM1	VGNC	VGNC:28322
Macaca mulatta	EDEM1	VGNC	VGNC:110370
Felis catus	EDEM1	VGNC	VGNC:61722
Rattus norvegicus	EDEM1	RGD	RGD:1563633
Mus musculus	EDEM1	MGD	MGI:2180139

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