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Aliases for CENPS Gene

Aliases for CENPS Gene

  • Centromere Protein S 2 3 5
  • Apoptosis-Inducing TAF9-Like Domain-Containing Protein 1 3 4
  • Fanconi Anemia-Associated Polypeptide Of 16 KDa 3 4
  • FANCM-Interacting Histone Fold Protein 1 3 4
  • FANCM Associated Histone Fold Protein 1 2 3
  • Apoptosis-Inducing, TAF9-Like Domain 1 2 3
  • APITD1 3 4
  • CENP-S 3 4
  • FAAP16 3 4
  • MHF1 3 4
  • FANCM-Associated Histone Fold Protein 1 4

External Ids for CENPS Gene

Previous HGNC Symbols for CENPS Gene

  • APITD1
  • MHF1

Summaries for CENPS Gene

Entrez Gene Summary 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 Cell Cycle, Mitotic and Fanconi anemia pathway. 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).

Additional gene information for CENPS Gene

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

Regulatory Elements for CENPS Gene

Enhancers for CENPS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H010494 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +66.8 66845 4.7 ELF3 HDGF PKNOX1 RB1 SIN3A ARID4B BMI1 ZNF2 RAD21 RFX5 PEX14 DFFA CENPS-CORT CENPS CORT ENSG00000203469 ENSG00000271989 PGD GC01P010513
GH01H010073 1.3 Ensembl ENCODE dbSUPER 10.4 -355.6 -355591 2.2 BATF RAD21 FOS RUNX3 CREM JUNB ZNF589 SMARCA4 IKZF1 MYC UBE4B RN7SKP269 NMNAT1 LZIC ENSG00000228150 RNU6-37P CENPS CTNNBIP1 PGAM1P11 RNU6-828P
GH01H010903 2.4 VISTA Ensembl ENCODE 5.5 +474.6 474633 2.7 BCOR SMARCA5 ZMYM3 CBX1 ZFHX2 NR2F6 KDM1A RCOR1 MAFK EGR2 CENPS HSPE1P24 C1orf127
GH01H010449 0.7 Ensembl ENCODE 12.3 +21.0 20977 2.2 ZNF362 ZNF600 PGD ENSG00000271989 CENPS-CORT CENPS PEX14 DFFA C1orf127 CORT ENSG00000203469
GH01H010429 1.1 ENCODE 6.9 +0.5 517 2.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 CBX5 TARDBP ENSG00000226849 EXOSC10 PGD ENSG00000271989 UBIAD1 ENSG00000271895 CENPS SRM CENPS-CORT
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CENPS on UCSC Golden Path with GeneCards custom track

Promoters for CENPS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001275 798 1401 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 CBX5 ZNF207

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:
CENPS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CENPS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for CENPS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CENPS Gene

Post-translational modifications for CENPS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CENPS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CENPS Gene

Domains & Families for CENPS Gene

Gene Families for CENPS Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CENPS Gene

Suggested Antigen Peptide Sequences for CENPS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N2Z9

UniProtKB/Swiss-Prot:

CENPS_HUMAN :
  • Belongs to the TAF9 family. CENPS subfamily.
Family:
  • Belongs to the TAF9 family. CENPS subfamily.
genes like me logo Genes that share domains with CENPS: view

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

Gene Ontology (GO) - Molecular Function for CENPS Gene

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 --
genes like me logo Genes that share ontologies with CENPS: view
genes like me logo Genes that share phenotypes with CENPS: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CENPS gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for CENPS Gene

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 --
genes like me logo Genes that share ontologies with CENPS: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CENPS Gene

Pathways & Interactions for CENPS Gene

genes like me logo Genes that share pathways with CENPS: view

Pathways by source for CENPS Gene

Gene Ontology (GO) - Biological Process for CENPS Gene

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 --
genes like me logo Genes that share ontologies with CENPS: view

No data available for SIGNOR curated interactions for CENPS Gene

Drugs & Compounds for CENPS Gene

No Compound Related Data Available

Transcripts for CENPS Gene

mRNA/cDNA for CENPS Gene

(1) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CENPS Gene

No ASD Table

Relevant External Links for CENPS Gene

GeneLoc Exon Structure for
CENPS
ECgene alternative splicing isoforms for
CENPS

Expression for CENPS Gene

NURSA nuclear receptor signaling pathways regulating expression of CENPS Gene:

CENPS

mRNA 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

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.

Orthologs for CENPS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APITD1 34 33
  • 99.52 (n)
OneToMany
cow
(Bos Taurus)
Mammalia APITD1 34 33
  • 88.11 (n)
OneToMany
dog
(Canis familiaris)
Mammalia APITD1 33
  • 86.5 (n)
rat
(Rattus norvegicus)
Mammalia Apitd1 33
  • 81.94 (n)
mouse
(Mus musculus)
Mammalia Apitd1 34 33
  • 81.2 (n)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves APITD1 34 33
  • 66.67 (n)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia apitd1 33
  • 66.38 (n)
zebrafish
(Danio rerio)
Actinopterygii apitd1 34 33
  • 63.31 (n)
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)

Evolution for CENPS Gene

ENSEMBL:
Gene Tree for CENPS (if available)
TreeFam:
Gene Tree for CENPS (if available)

Paralogs for CENPS Gene

Paralogs for CENPS Gene

Pseudogenes.org Pseudogenes for CENPS Gene

genes like me logo Genes that share paralogs with CENPS: view

Variants for CENPS Gene

Sequence variations from dbSNP and Humsavar for CENPS Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000356299 -- 10,442,091(+) AAAAA(A/G)AAAAA intron-variant
rs1000780672 -- 10,437,962(+) TCACC(A/G)TGTTG intron-variant
rs1000904944 -- 10,431,427(+) CGTCA(C/T)CTTGA intron-variant
rs1001668937 -- 10,431,301(+) TCCAG(A/G)CGCGG intron-variant, nc-transcript-variant, reference, synonymous-codon
rs1001902326 -- 10,436,788(+) AGTCC(A/G)GTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CENPS Gene

Variant ID Type Subtype PubMed ID
esv2764192 CNV gain 21179565
esv2758920 CNV gain+loss 17122850

Variation tolerance for CENPS Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links 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

MalaCards: The human disease database

(3) MalaCards diseases for CENPS Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
limited scleroderma
  • limited cutaneous systemic sclerosis
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search CENPS in MalaCards View complete list of genes associated with diseases

Relevant External Links for CENPS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CENPS
genes like me logo Genes that share disorders with CENPS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CENPS Gene

Publications for CENPS Gene

  1. 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 60
  2. 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 60
  3. 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 60
  4. 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 60
  5. 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 60

Products for CENPS Gene

Sources for CENPS Gene

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