Gene Gene information from NCBI Gene database.
Entrez ID 23186
Gene name REST corepressor 1
Gene symbol RCOR1
Synonyms (NCBI Gene)
CORESTRCOR
Chromosome 14
Chromosome location 14q32.31-q32.32
Summary This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs754404879 C>T Likely-pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
953
miRTarBase ID miRNA Experiments Reference
MIRT001506 hsa-miR-155-5p pSILAC 18668040
MIRT003911 hsa-miR-9-3p Luciferase reporter assayWestern blot 19118166
MIRT007220 hsa-miR-22-3p Luciferase reporter assay 23349832
MIRT001506 hsa-miR-155-5p Proteomics;Other 18668040
MIRT050248 hsa-miR-25-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA
GO:0003682 Function Chromatin binding IEA
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IEA
GO:0005515 Function Protein binding IPI 10449787, 12192000, 16956976, 17687328, 17939992, 17956988, 19497860, 19703393, 20389281, 21258344, 21300290, 23592795, 23752268, 26226427, 26496610, 28514442, 28947780, 33961781, 34031383, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607675 17441 ENSG00000089902
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKL0
Protein name REST corepressor 1 (Protein CoREST)
Protein function Essential component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specifi
PDB 2IW5 , 2UXN , 2UXX , 2V1D , 2X0L , 2XAF , 2XAG , 2XAH , 2XAJ , 2XAQ , 2XAS , 2Y48 , 3ZMS , 3ZMT , 3ZMU , 3ZMV , 3ZMZ , 3ZN0 , 3ZN1 , 4BAY , 4KUM , 4UV8 , 4UV9 , 4UVA , 4UVB , 4UVC , 4UXN , 4XBF , 5H6Q , 5H6R , 5L3B , 5L3C , 5L3D , 5L3E , 5L3F , 5L3G , 5LBQ , 5LGN , 5LGT , 5LGU , 5LHG , 5LHH , 5LHI , 5X60 , 5YJB , 6K3E , 6KGK , 6KGL , 6KGM , 6KGN , 6S35
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01448 ELM2 105 158 ELM2 domain Family
PF00249 Myb_DNA-binding 384 428 Myb-like DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10449787}.
Sequence
MPAMVEKGPEVSGKRRGRNNAAASASAAAASAAASAACASPAATAASGAAASSASAAAAS
AAAAPNNGQNKSLAAAAPNGNSSSNSWEEGSSGSSSDEEHGGGGMRVGPQYQAVVPDFDP
AKLARRSQERDNLGMLVWSPNQNLSEAKLDEYIAIAKE
KHGYNMEQALGMLFWHKHNIEK
SLADLPNFTPFPDEWTVEDKVLFEQAFSFHGKTFHRIQQMLPDKSIASLVKFYYSWKKTR
TKTSVMDRHARKQKREREESEDELEEANGNNPIDIEVDQNKESKKEVPPTETVPQVKKEK
HSTQAKNRAKRKPPKGMFLSQEDVEAVSANATAATTVLRQLDMELVSVKRQIQNIKQTNS
ALKEKLDGGIEPYRLPEVIQKCNARWTTEEQLLAVQAIRKYGRDFQAISDVIGNKSVVQV
KNFFVNYR
RRFNIDEVLQEWEAEHGKEETNGPSNQKPVKSPDNSIKMPEEEDEAPVLDVR
YASAS
Sequence length 485
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Huntington disease   HDACs deacetylate histones
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Joubert syndrome Likely pathogenic rs754404879 RCV000662277
★★★★☆
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS 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
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 30889214
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 27685921 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28947780, 29895970
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28947780, 29895970, 35687133, 36344844 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36344844 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 16247481
★☆☆☆☆
Found in Text Mining only
Cartilage Diseases Cartilage disease Pubtator 20973059 Inhibit
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 26489029
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathy Pubtator 26489029 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 25043185, 29122314
★☆☆☆☆
Found in Text Mining only