Gene Gene information from NCBI Gene database.
Entrez ID 30001
Gene name Endoplasmic reticulum oxidoreductase 1 alpha
Gene symbol ERO1A
Synonyms (NCBI Gene)
ERO1-LERO1-L-alphaERO1-alphaERO1LERO1LAEro1alpha
Chromosome 14
Chromosome location 14q22.1
miRNA miRNA information provided by mirtarbase database.
98
miRTarBase ID miRNA Experiments Reference
MIRT713192 hsa-miR-141-3p HITS-CLIP 19536157
MIRT713191 hsa-miR-200a-3p HITS-CLIP 19536157
MIRT713190 hsa-miR-433-5p HITS-CLIP 19536157
MIRT713189 hsa-miR-6502-3p HITS-CLIP 19536157
MIRT713188 hsa-miR-6888-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PPARG Activation 18177270
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17170699, 20802462, 25416956, 29858230, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 29858230
GO:0005783 Component Endoplasmic reticulum IDA 10671517, 29858230
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615435 13280 ENSG00000197930
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96HE7
Protein name ERO1-like protein alpha (ERO1-L) (ERO1-L-alpha) (EC 1.8.4.-) (Endoplasmic oxidoreductin-1-like protein) (Endoplasmic reticulum oxidoreductase alpha) (Oxidoreductin-1-L-alpha)
Protein function Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Fol
PDB 3AHQ , 3AHR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04137 ERO1 60 457 Endoplasmic Reticulum Oxidoreductin 1 (ERO1) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low level. Expressed at high level in upper digestive tract. Highly expressed in esophagus. Weakly expressed in stomach and duodenum. {ECO:0000269|PubMed:10818100}.
Sequence
Sequence length 468
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum
Vibrio cholerae infection
Lipid and atherosclerosis
  Insulin processing
Detoxification of Reactive Oxygen Species
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
LATE-ONSET ALZHEIMER'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
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
Acute pancreatitis Pancreatitis BEFREE 30851439
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 40183343 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28160557
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28160557, 33751828 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Hemorrhage Cerebral hemorrhage Pubtator 37473923 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 30826359
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 30826359
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 31410063
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28839225
★☆☆☆☆
Found in Text Mining only
Congenital contractural arachnodactyly Congenital Contractural Arachnodactyly BEFREE 31410063
★☆☆☆☆
Found in Text Mining only