Gene Gene information from NCBI Gene database.
Entrez ID 9695
Gene name ER degradation enhancing alpha-mannosidase like protein 1
Gene symbol EDEM1
Synonyms (NCBI Gene)
EDEM
Chromosome 3
Chromosome location 3p26.1
miRNA miRNA information provided by mirtarbase database.
912
miRTarBase ID miRNA Experiments Reference
MIRT005824 hsa-miR-204-5p Luciferase reporter assayMicroarrayqRT-PCR 21282569
MIRT018268 hsa-miR-335-5p Microarray 18185580
MIRT028385 hsa-miR-32-5p Sequencing 20371350
MIRT048731 hsa-miR-96-5p CLASH 23622248
MIRT048443 hsa-miR-100-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IDA 12610306
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IMP 25092655
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity TAS
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 16449189, 19524542, 19934218
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607673 18967 ENSG00000134109
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92611
Protein name ER degradation-enhancing alpha-mannosidase-like protein 1
Protein function Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01532 Glyco_hydro_47 137 586 Glycosyl hydrolase family 47 Domain
Sequence
Sequence length 657
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   XBP1(S) activates chaperone genes
ER Quality Control Compartment (ERQC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 28666219 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24470074 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30281916 Associate
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major Major depressive disorder Pubtator 24703171 Stimulate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 39652629, 40073403 Associate
★☆☆☆☆
Found in Text Mining only
Intervertebral Disc Degeneration Intervertebral disc disease Pubtator 16629899 Associate
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression BEFREE 24703171
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder Mental Depression PSYGENET_DG 24703171
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
melanoma Melanoma BEFREE 22905195, 31347047
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 22905195, 28445987 Associate
★☆☆☆☆
Found in Text Mining only