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The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008]
SIN3A (SIN3 Transcription Regulator Family Member A) is a Protein Coding gene. Diseases associated with SIN3A include Witteveen-Kolk Syndrome and Mental Retardation, Autosomal Dominant 13. Among its related pathways are Nur77 Signaling in T-Cell and Macrophage Differentiation and Growth Inhibition by METS. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is SIN3B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISS | -- |
GO:0001102 | RNA polymerase II activating transcription factor binding | IPI | 22783022 |
GO:0001103 | RNA polymerase II repressing transcription factor binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000776 | kinetochore | IEA | -- |
GO:0000785 | chromatin | IBA | 21873635 |
GO:0005634 | nucleus | IEA,ISS | -- |
GO:0005654 | nucleoplasm | TAS,IDA | -- |
GO:0005667 | transcription factor complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
2 | Macrophage Differentiation and Growth Inhibition by METS |
DNA Methylation and Transcriptional Repression
.30
|
Macrophage Differentiation and Growth Inhibition by METS
.30
|
3 | RNA Polymerase II Transcription Initiation And Promoter Clearance |
Protein Acetylation and Deacetylation
.51
|
|
4 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 22783022 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0002218 | activation of innate immune response | IMP | 22783022 |
GO:0002230 | positive regulation of defense response to virus by host | IMP | 22783022 |
GO:0002244 | hematopoietic progenitor cell differentiation | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25a | · | 25b | ^ | 26a | · | 26b | ^ | 27 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | - | ||||||||||||||||||
SP3: | - | ||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | |||||||||||||||||||
SP6: | |||||||||||||||||||
SP7: | |||||||||||||||||||
SP8: | |||||||||||||||||||
SP9: | |||||||||||||||||||
SP10: | |||||||||||||||||||
SP11: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SIN3A 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | SIN3A 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | SIN3A 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | SIN3A 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Sin3a 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Sin3a 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | SIN3A 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SIN3A 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | SIN3A 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | sin3a 32 |
|
||
Str.14936 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Sin3 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | sin3aa 33 |
|
OneToMany | |
sin3ab 33 |
|
OneToMany | |||
wufb95g11 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Sin3A 33 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007892 32 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | sin-3 33 |
|
OneToMany | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SIN3 35 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3742 33 |
|
OneToMany | |
Cin.4585 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4585 32 |
|
SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1135401768 | pathogenic, Witteveen-kolk syndrome | 75,384,340(-) | TGTGTGT/TGTGT | coding_sequence_variant, frameshift | |
rs1555443682 | likely-pathogenic, Inborn genetic diseases | 75,392,614(-) | GGG/G | coding_sequence_variant, frameshift | |
rs1555444885 | pathogenic, Inborn genetic diseases | 75,400,810(-) | G/A | coding_sequence_variant, stop_gained | |
rs1567368243 | pathogenic, Witteveen-kolk syndrome | 75,411,652(-) | T/TT | coding_sequence_variant, frameshift | |
rs879255618 | pathogenic, Witteveen-kolk syndrome | 75,411,697(-) | GGGGG/GGGGGG | coding_sequence_variant, frameshift |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1243n106 | CNV | deletion | 24896259 |
dgv2621n100 | CNV | gain | 25217958 |
esv2749894 | CNV | deletion | 23290073 |
esv2749895 | CNV | deletion | 23290073 |
esv3636926 | CNV | gain | 21293372 |
nsv1116463 | OTHER | inversion | 24896259 |
nsv1615 | CNV | insertion | 18451855 |
nsv474716 | CNV | novel sequence insertion | 20440878 |
nsv525265 | CNV | gain | 19592680 |
nsv827389 | CNV | gain | 20364138 |
nsv976952 | CNV | duplication | 23825009 |
nsv977737 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
witteveen-kolk syndrome |
|
|
mental retardation, autosomal dominant 13 |
|
|
rett syndrome |
|
|
chromosome 15q24 deletion syndrome |
|
|