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This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010]
CENPS (Centromere Protein S) is a Protein Coding gene. Diseases associated with CENPS include Crest Syndrome and Neuroblastoma. Among its related pathways are Signaling by GPCR and Mitotic Prometaphase. An important paralog of this gene is CENPS-CORT.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA,IDA | 20347429 |
GO:0003682 | chromatin binding | IDA | 20347429 |
GO:0003690 | contributes_to double-stranded DNA binding | IDA | 20347428 |
GO:0005515 | protein binding | IPI | 20347429 |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000775 | chromosome, centromeric region | IEA | -- |
GO:0000776 | kinetochore | IEA | -- |
GO:0000777 | condensed chromosome kinetochore | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell Cycle, Mitotic |
.83
|
.60
|
2 | Chromosome Maintenance | ||
3 | Mitotic Metaphase and Anaphase |
.94
|
|
4 | Mitotic Prometaphase | ||
5 | Fanconi anemia pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000712 | resolution of meiotic recombination intermediates | IMP | 20347428 |
GO:0006281 | DNA repair | IDA | 20347429 |
GO:0006974 | cellular response to DNA damage stimulus | IMP | 20347428 |
GO:0007049 | cell cycle | IEA | -- |
GO:0031297 | replication fork processing | IMP | 20347428 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APITD1 30 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | APITD1 30 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | APITD1 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Apitd1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Apitd1 30 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | APITD1 30 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | apitd1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | apitd1 30 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758920 | CNV | gain+loss | 17122850 |
esv2764192 | CNV | gain | 21179565 |
Disorder | Aliases | PubMed IDs |
---|---|---|
crest syndrome |
|
|
neuroblastoma |
|
|
dyskinesia of esophagus |
|
|
gastric antral vascular ectasia |
|
|
limited scleroderma |
|
|