CENPS - centromere protein S Gene
Also Known as MHF1; APITD1; CENP-S; FAAP16
Species: Homo sapiens
About CENPS
This gene has 5 transcripts (splice variants), 171 orthologues and 1 paralogue. Broad expression in testis (RPKM 21.7), kidney (RPKM 12.6) and 24 other tissues.
Summary
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 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_199294.3 | NP_954988.1 | centromere protein S |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
20347429 | GOA |
| enables chromatin binding |
IDA
IDA: Inferred from direct assay
|
20347429 | GOA |
| contributes to double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
20347428 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20347429 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA damage response |
IDA
IDA: Inferred from direct assay
|
20347429 | GOA |
| involved in DNA damage response |
IMP
IMP: Inferred from mutant phenotype
|
20347428 | GOA |
| involved in DNA repair |
IDA
IDA: Inferred from direct assay
|
20347429 | GOA |
| involved in interstrand cross-link repair |
IDA
IDA: Inferred from direct assay
|
20347429 | GOA |
| involved in replication fork processing |
IMP
IMP: Inferred from mutant phenotype
|
20347428 | GOA |
| involved in resolution of meiotic recombination intermediates |
IMP
IMP: Inferred from mutant phenotype
|
20347428 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of FANCM-MHF complex |
IDA
IDA: Inferred from direct assay
|
20347428 | GOA |
| part of FANCM-MHF complex |
IPI
IPI: Inferred from physical interaction
|
20347429 | GOA |
| part of Fanconi anaemia nuclear complex |
IDA
IDA: Inferred from direct assay
|
20347428 | GOA |
| located in chromatin |
IDA
IDA: Inferred from direct assay
|
20347429 | GOA |
| part of inner kinetochore |
IPI
IPI: Inferred from physical interaction
|
36085283 | GOA |
CENPS Protein Structure
CENP-S: CENP-S protein (17 - 92)
- 0
- 100
- 138 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
centromere protein S |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Crest Syndrome |
|
|
| Neuroblastoma |
|
|
| Dyskinesia Of Esophagus |
|
|
| Limited Scleroderma |
|
|
| Telangiectasis |
|
|
| Aplastic Anemia |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CENPS | RGD | RGD:5128728 |
| Mus musculus | CENPS | MGD | MGI:1917178 |
| Others | CENPS | NCBI |