Aliases for CENPS Gene
Aliases for CENPS Gene
External Ids for CENPS Gene
- HGNC: 23163
- Entrez Gene: 378708
- Ensembl: ENSG00000175279
- OMIM: 609130
- UniProtKB: Q8N2Z9
Previous HGNC Symbols for CENPS Gene
- APITD1
- MHF1
Summaries for CENPS Gene
-
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]
GeneCards Summary for CENPS Gene
CENPS (Centromere Protein S) is a Protein Coding gene. Diseases associated with CENPS include Neuroblastoma and Limited Scleroderma. Among its related pathways are Fanconi anemia pathway and Chromosome Maintenance. An important paralog of this gene is CENPS-CORT.
UniProtKB/Swiss-Prot for CENPS Gene
-
DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:20347428, PubMed:20347429). In complex with CENPX (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM (PubMed:20347428, PubMed:20347429). In complex with CENPX and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks (PubMed:20347428). In complex with CENPT, CENPW and CENPX (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression (PubMed:19620631). As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure (PubMed:20347428, PubMed:22304917). DNA-binding function is fulfilled in the presence of CENPX, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own (PubMed:20347428, PubMed:20347429).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CENPS Gene
Genomics for CENPS Gene
GeneHancer (GH) Regulatory Elements for CENPS Gene
Promoters and enhancers for CENPS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CENPS on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CENPS Gene
Genomic Locations for CENPS Gene
- chr1:10,430,102-10,442,815
- (GRCh38/hg38)
- Size:
- 12,714 bases
- Orientation:
- Plus strand
- chr1:10,490,159-10,512,210
- (GRCh37/hg19)
Genomic View for CENPS Gene
Genes around CENPS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.22 by Ensembl
- 1p36.22 by Entrez Gene
- 1p36.22 by HGNC
CENPS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CENPS Gene
Proteins for CENPS Gene
-
Protein details for CENPS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N2Z9-CENPS_HUMAN
- Recommended name:
- Centromere protein S
- Protein Accession:
- Q8N2Z9
- Q8NFE5
- Q8NFG5
Protein attributes for CENPS Gene
- Size:
- 138 amino acids
- Molecular mass:
- 15893 Da
- Quaternary structure:
-
- Heterodimer with CENPX, sometimes called MHF; this interaction stabilizes both partners (PubMed:19620631, PubMed:20347428, PubMed:20347429, PubMed:24522885). MHF heterodimers can assemble to form tetrameric structures (PubMed:22304917). MHF also coassemble with CENPT-CENPW heterodimers at centromeres to form the tetrameric CENP-T-W-S-X complex (PubMed:22304917, PubMed:24522885). Forms a discrete complex with FANCM and CENPX, called FANCM-MHF; this interaction, probably mediated by direct binding between CENPS and FANCM, leads to synergistic activation of double-stranded DNA binding and strongly stimulates FANCM-mediated DNA remodeling (PubMed:20347428, PubMed:20347429). Recruited by FANCM to the Fanconi anemia (FA) core complex, which consists of CENPS, CENPX, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FAAP24 and FAAP100. The FA core complex associates with Bloom syndrome (BLM) complex, which consists of at least BLM, DNA topoisomerase 3-alpha (TOP3A), RMI1/BLAP75, RPA1/RPA70 and RPA2/RPA32. The super complex between FA and BLM is called BRAFT (PubMed:20347428, PubMed:20347429). Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex, composed of at least CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU (PubMed:16622419).
Three dimensional structures from OCA and Proteopedia for CENPS Gene
Post-translational modifications for CENPS Gene
Other Protein References for CENPS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Assay Products
No data available for DME Specific Peptides for CENPS Gene
Domains & Families for CENPS Gene
Gene Families for CENPS Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for CENPS Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CENPS Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8N2Z9- Family:
-
- Belongs to the TAF9 family. CENPS subfamily.
Function for CENPS Gene
Molecular function for CENPS Gene
- UniProtKB/Swiss-Prot Function:
- DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:20347428, PubMed:20347429). In complex with CENPX (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM (PubMed:20347428, PubMed:20347429). In complex with CENPX and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks (PubMed:20347428). In complex with CENPT, CENPW and CENPX (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression (PubMed:19620631). As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure (PubMed:20347428, PubMed:22304917). DNA-binding function is fulfilled in the presence of CENPX, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own (PubMed:20347428, PubMed:20347429).
Phenotypes From GWAS Catalog for CENPS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IDA,IEA | 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 | -- |
Phenotypes for CENPS Gene
- GenomeRNAi human phenotypes for CENPS:
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miRNA for CENPS Gene
- miRTarBase miRNAs that target CENPS
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CENPS Gene
Localization for CENPS Gene
Subcellular locations from UniProtKB/Swiss-Prot for CENPS Gene
- Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore. Note=Assembly of CENPS and CENPX and its partner subunits CENPT and CENPW at centromeres occurs through a dynamic exchange mechanism. Although exchange is continuous in the cell cycle, de novo assembly starts principally during mid-late S phase and is complete by G2. CENPS is more stably bound at the kinetochore than CENPX (PubMed:19620631, PubMed:24522885). During S phase, rapidly recruited to DNA interstrand cross-links that block replication (PubMed:20347428). Recruited to DNA damage sites about 20 minutes following UV irradiation, reaching a plateau after approximately 40 minutes (PubMed:24522885). {ECO:0000269 PubMed:19620631, ECO:0000269 PubMed:20347428, ECO:0000269 PubMed:24522885}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| cytoskeleton | 2 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CENPS Gene
Pathways & Interactions for CENPS Gene
| 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 | ||
Pathways by source for CENPS Gene
17 Reactome pathways for CENPS Gene
1 KEGG pathway for CENPS Gene
Interacting Proteins for CENPS Gene
Selected Interacting proteins:
Q8N2Z9-CENPS_HUMAN
ENSP00000308583
for CENPS Gene via
IID
STRING
MINT
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000712 | resolution of meiotic recombination intermediates | IMP | 20347428 |
| GO:0006281 | DNA repair | IDA | 20347429 |
| GO:0006312 | mitotic recombination | IBA | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IMP | 20347428 |
| GO:0007049 | cell cycle | IEA | -- |
No data available for SIGNOR curated interactions for CENPS Gene
Transcripts for CENPS Gene
mRNA/cDNA for CENPS Gene
- (1) REFSEQ mRNAs :
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for CENPS
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available APITD1 gene related products
- orf clones - Search results for available APITD1 gene related products
- Applied Biological Materials Clones for CENPS
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CENPS Gene
NURSA nuclear receptor signaling pathways regulating expression of CENPS Gene:
CENPSmRNA Expression by UniProt/SwissProt for CENPS Gene:
Q8N2Z9-CENPS_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for CENPS Gene
- Kidney(4)
Primer Products
-
OriGene qPCR primer pairs for CENPS
-
OriGene qPCR primer pairs and template standards for CENPS
- genomics-online: primer clones - Search results for available APITD1 gene related products
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CENPS Gene
Orthologs for CENPS Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | APITD1 34 33 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | APITD1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | APITD1 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Apitd1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Apitd1 34 33 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | APITD1 34 33 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | apitd1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | apitd1 34 33 |
|
OneToMany |
- Species where no ortholog for CENPS was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for CENPS Gene
Paralogs for CENPS Gene
Pseudogenes.org Pseudogenes for CENPS Gene
Variants for CENPS Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000356299 | -- | 10,442,091(+) | G/A | intron_variant | |
| rs1000780672 | -- | 10,437,962(+) | A/G | intron_variant | |
| rs1000904944 | -- | 10,431,427(+) | C/T | intron_variant | |
| rs1001668937 | -- | 10,431,301(+) | A/G | intron_variant, non_coding_transcript_variant | |
| rs1001902326 | -- | 10,436,788(+) | A/G | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758920 | CNV | gain+loss | 17122850 |
| esv2764192 | CNV | gain | 21179565 |
Residual Variation Intolerance Score:
53.3% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CENPS Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CENPS
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CENPS Gene
Disorders for CENPS Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuroblastoma |
|
|
| limited scleroderma |
|
|
| fanconi anemia, complementation group a |
|
|
Search CENPS in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CENPS
No data available for UniProtKB/Swiss-Prot and Genatlas for CENPS Gene
Publications for CENPS Gene
- A novel 1p36.2 located gene, APITD1, with tumour-suppressive properties and a putative p53-binding domain, shows low expression in neuroblastoma tumours. (PMID: 15328517) Krona C … Martinsson T (British journal of cancer 2004) 2 3 4 22 58
- A CENP-S/X complex assembles at the centromere in S and G2 phases of the human cell cycle. (PMID: 24522885) Dornblut C … Sullivan KF (Open biology 2014) 2 3 4 58
- FANCM-associated proteins MHF1 and MHF2, but not the other Fanconi anemia factors, limit meiotic crossovers. (PMID: 25038251) Girard C … Mercier R (Nucleic acids research 2014) 2 3 58
- CENP-T-W-S-X forms a unique centromeric chromatin structure with a histone-like fold. (PMID: 22304917) Nishino T … Fukagawa T (Cell 2012) 3 4 58
- MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. (PMID: 20347429) Singh TR … Meetei AR (Molecular cell 2010) 3 4 58
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
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- Search ViGene Biosciences for CENPS
- Horizon Cell Lines for CENPS
- genomics-online: cdna clones - Search results for available APITD1 gene related products
- orf clones - Search results for available APITD1 gene related products
- genomics-online: gRNA clones - Search results for available APITD1 gene related products
- genomics-online: primer clones - Search results for available APITD1 gene related products
- genomics-online: shRNA clones - Search results for available APITD1 gene related products
Sources for CENPS Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems