Gene Gene information from NCBI Gene database.
Entrez ID 11079
Gene name Retention in endoplasmic reticulum sorting receptor 1
Gene symbol RER1
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.32
Summary The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golg
miRNA miRNA information provided by mirtarbase database.
280
miRTarBase ID miRNA Experiments Reference
MIRT016241 hsa-miR-548b-3p Sequencing 20371350
MIRT043203 hsa-miR-324-5p CLASH 23622248
MIRT041841 hsa-miR-484 CLASH 23622248
MIRT469389 hsa-miR-143-3p PAR-CLIP 23592263
MIRT469386 hsa-miR-6088 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 9309388
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620048 30309 ENSG00000157916
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15258
Protein name Protein RER1
Protein function Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03248 Rer1 20 185 Rer1 family Family
Sequence
Sequence length 196
Interactions View interactions
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
PEROXISOME BIOGENESIS DISORDER 1A Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 6A 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
Alzheimer Disease Alzheimer disease Pubtator 28877262 Associate
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 25385046
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder) Charcot-Marie-Tooth disease BEFREE 25385046
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37934565 Associate
★☆☆☆☆
Found in Text Mining only
Lewy Body Disease Lewy body disease Pubtator 28877262 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 30630537
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 31138119
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30630537
★☆☆☆☆
Found in Text Mining only
Pancreatic carcinoma Pancreatic carcinoma BEFREE 30630537
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 28877262
★☆☆☆☆
Found in Text Mining only