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This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]
NCOR1 (Nuclear Receptor Corepressor 1) is a Protein Coding gene. Diseases associated with NCOR1 include Mitochondrial Complex Iii Deficiency, Nuclear Type 2 and Rett Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is NCOR2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISS | -- |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0001012 | RNA polymerase II regulatory region DNA binding | IBA | -- |
GO:0001102 | RNA polymerase II activating transcription factor binding | IPI | 19955185 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000118 | histone deacetylase complex | IBA,IDA | 18326024 |
GO:0000790 | nuclear chromatin | IDA | 17505061 |
GO:0005634 | nucleus | IEA,IDA | 10049357 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005829 | cytosol | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | -- |
GO:0007623 | circadian rhythm | TAS | -- |
GO:0019216 | regulation of lipid metabolic process | TAS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37a | · | 37b | ^ | 38 | ^ | 39a | · | 39b | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NCOR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NCOR1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ncor1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ncor1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NCOR1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NCOR1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NCOR1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NCOR1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NCOR1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ncor1 30 |
|
||
Str.16187 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398304 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ncor1 30 31 |
|
OneToOne | |
zgc56355 30 |
|
||||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SNT1 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710458 | Benign: not provided | 16,057,910(-) | G/T | SYNONYMOUS_VARIANT | |
710459 | Benign: not provided | 16,101,427(-) | C/G | MISSENSE_VARIANT | |
712852 | Benign: not provided | 16,058,511(-) | C/T | SYNONYMOUS_VARIANT | |
712853 | Benign: not provided | 16,194,474(-) | G/A | SYNONYMOUS_VARIANT | |
716462 | Benign: not provided | 16,080,656(-) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1426n106 | CNV | duplication | 24896259 |
dgv3107n100 | CNV | gain | 25217958 |
dgv3108n100 | CNV | gain | 25217958 |
esv2661970 | CNV | deletion | 23128226 |
esv2715702 | CNV | deletion | 23290073 |
esv3335248 | CNV | insertion | 20981092 |
esv3416216 | CNV | insertion | 20981092 |
esv3554199 | CNV | deletion | 23714750 |
esv3554201 | CNV | deletion | 23714750 |
esv3554202 | CNV | deletion | 23714750 |
esv3572431 | CNV | gain | 25503493 |
esv3640096 | CNV | loss | 21293372 |
esv3640097 | CNV | loss | 21293372 |
esv3640098 | CNV | loss | 21293372 |
esv3892973 | CNV | gain | 25118596 |
nsv1070814 | CNV | deletion | 25765185 |
nsv112235 | CNV | deletion | 16902084 |
nsv1134603 | CNV | deletion | 24896259 |
nsv1138502 | CNV | deletion | 24896259 |
nsv1150926 | CNV | duplication | 26484159 |
nsv522169 | CNV | gain | 19592680 |
nsv528263 | CNV | loss | 19592680 |
nsv833377 | CNV | loss | 17160897 |
nsv960422 | CNV | duplication | 23825009 |
nsv960423 | CNV | duplication | 23825009 |
nsv962265 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex iii deficiency, nuclear type 2 |
|
|
rett syndrome |
|
|
endometrial hyperplasia |
|
|
acute promyelocytic leukemia |
|
|
mitochondrial complex iii deficiency |
|
|