Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23186
Gene name Gene Name - the full gene name approved by the HGNC.
REST corepressor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RCOR1
Synonyms (NCBI Gene) Gene synonyms aliases
COREST, RCOR
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.31-q32.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs754404879 C>T Likely-pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001506 hsa-miR-155-5p pSILAC 18668040
MIRT003911 hsa-miR-9-3p Luciferase reporter assay, Western 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607675 17441 ENSG00000089902
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cerebellar vermis agenesis familial aplasia of the vermis rs754404879 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33221751
Astrocytoma Associate 27685921
Breast Neoplasms Associate 28947780, 29895970, 35687133, 36344844
Carcinogenesis Associate 36344844
Cartilage Diseases Inhibit 20973059
Ciliopathies Associate 26489029
Colorectal Neoplasms Associate 25043185
Endocrine System Diseases Associate 36344844
Glioblastoma Associate 27685921
Glioma Associate 27685921