|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23186
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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REST corepressor 1 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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RCOR1 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
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COREST, RCOR |
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Chromosome
Chromosome number
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14 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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14q32.31-q32.32 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
| 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 |
|
| Sequence length |
485 |
| Interactions |
View interactions
|
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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 |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
|
|
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