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SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]
SAP130 (Sin3A Associated Protein 130) is a Protein Coding gene. Among its related pathways are Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and histone acetyltransferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0016607 | nuclear speck | IDA | -- |
GO:0070822 | Sin3-type complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
3 | Gene Expression |
.48
|
|
4 | RNA Polymerase II Transcription Initiation And Promoter Clearance |
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
.33
|
|
5 | Development NOTCH1-mediated pathway for NF-KB activity modulation |
Transcription Sin3 and NuRD in transcription regulation
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 22783022 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | · | 16c | · | 16d | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 20a | · | 20b | · | 20c | · | 20d | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25a | · | 25b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||
SP2: | |||||||||||||||||||||||
SP3: | |||||||||||||||||||||||
SP4: | |||||||||||||||||||||||
SP5: | |||||||||||||||||||||||
SP6: | |||||||||||||||||||||||
SP7: | |||||||||||||||||||||||
SP8: | |||||||||||||||||||||||
SP9: | |||||||||||||||||||||||
SP10: | |||||||||||||||||||||||
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SAP130 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SAP130 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SAP130 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SAP130 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sap130 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sap130 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SAP130 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SAP130 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SAP130 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100127690 30 |
|
||
Str.15929 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.15283 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sap130b 30 31 |
|
OneToMany | |
sap130a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sap130 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
808800 | Likely Pathogenic: not provided | 128,017,847(-) | G/A | NONSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1357413 | CNV | deletion | 17803354 |
esv2720731 | CNV | deletion | 23290073 |
esv2720732 | CNV | deletion | 23290073 |
esv2720733 | CNV | deletion | 23290073 |
esv2720734 | CNV | deletion | 23290073 |
esv2720735 | CNV | deletion | 23290073 |
esv3560106 | CNV | deletion | 23714750 |
esv3592372 | CNV | loss | 21293372 |
esv4100 | CNV | loss | 18987735 |
nsv1072026 | CNV | deletion | 25765185 |
nsv1072447 | CNV | deletion | 25765185 |
nsv1118876 | CNV | deletion | 24896259 |
nsv1123382 | CNV | deletion | 24896259 |
nsv1136409 | CNV | deletion | 24896259 |
nsv1153553 | CNV | deletion | 26484159 |
nsv508865 | CNV | insertion | 20534489 |
nsv834367 | CNV | loss | 17160897 |
No disorders were found for SAP130 Gene.