CENPS Gene (Protein Coding)

Centromere Protein S

GC01P010433
GIFtS:
30
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 n... See more...

Aliases for CENPS Gene

Aliases for CENPS Gene

  • Centromere Protein S 2 3 4 5
  • CENP-S 2 3 4
  • FAAP16 2 3 4
  • 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
  • MHF1 3 4
  • FANCM-Associated Histone Fold Protein 1 4
  • CENPS 5

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 Crest Syndrome and Dyskinesia Of Esophagus. Among its related pathways are Cell Cycle, Mitotic and Signaling by GPCR. An important paralog of this gene is CENPS-CORT.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CENPS Gene

Genomics for CENPS Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CENPS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CENPS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CENPS

Genomic Locations for CENPS Gene

Latest Assembly
chr1:10,430,433-10,442,808
(GRCh38/hg38)
Size:
12,376 bases
Orientation:
Plus strand

Previous Assembly
chr1:10,490,490-10,502,865
(GRCh37/hg19 by Entrez Gene)
Size:
12,376 bases
Orientation:
Plus strand

chr1:10,490,159-10,512,210
(GRCh37/hg19 by Ensembl)
Size:
22,052 bases
Orientation:
Plus strand

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 Structure • Gene Density

RefSeq DNA sequence for CENPS Gene

Proteins for CENPS Gene

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  • 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

  • Ubiquitination at Lys94
  • Modification sites at PhosphoSitePlus

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CENPS Gene

InterPro:

Suggested Antigen Peptide Sequences for CENPS Gene

GenScript: Design optimal peptide antigens:
  • Fanconi anemia-associated polypeptide of 16 kDa (CENPS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N2Z9

UniProtKB/Swiss-Prot:

CENPS_HUMAN :
  • Belongs to the TAF9 family. CENP-S/MHF1 subfamily.
Family:
  • Belongs to the TAF9 family. CENP-S/MHF1 subfamily.
genes like me logo Genes that share domains with CENPS: view

Function for CENPS Gene

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  6. Cell Lines for research

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

miRNA for CENPS Gene

miRTarBase miRNAs that target CENPS

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CENPS

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}.

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
plasma membrane 1
extracellular 1
mitochondrion 1

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

1 KEGG pathway 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:0006974 cellular response to DNA damage stimulus IMP 20347428
GO:0007049 cell cycle IEA --
GO:0031297 replication fork processing IMP 20347428
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

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No Compound Related Data Available

Transcripts for CENPS Gene

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mRNA/cDNA for CENPS Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CENPS

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

No ASD Table

Relevant External Links for CENPS Gene

GeneLoc Exon Structure for
CENPS

Expression for CENPS Gene

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  1. Primer products for research

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.2)

Primer products for research

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 29 30
  • 99.52 (n)
 OneToMany
Cow
(Bos Taurus)
 Mammalia APITD1 29 30
  • 88.11 (n)
 OneToMany
Dog
(Canis familiaris)
 Mammalia APITD1 29
  • 86.5 (n)
Rat
(Rattus norvegicus)
 Mammalia Apitd1 29
  • 81.94 (n)
Mouse
(Mus musculus)
 Mammalia Apitd1 29 30
  • 81.2 (n)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 53 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves APITD1 29 30
  • 66.67 (n)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia apitd1 29
  • 66.38 (n)
Zebrafish
(Danio rerio)
 Actinopterygii apitd1 29 30
  • 63.31 (n)
 OneToMany
Species where no ortholog for CENPS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CENPS: view image
Alliance of Genome Resources:
Additional Orthologs for CENPS

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CENPS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

Variation tolerance for CENPS Gene

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
Leiden Open Variation Database (LOVD)
CENPS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CENPS Gene

Disorders for CENPS Gene

MalaCards: The human disease database

(7) MalaCards diseases for CENPS Gene - From: COP and GCD

Disorder Aliases PubMed IDs
crest syndrome
dyskinesia of esophagus
  • dyskinesia of oesophagus
neuroblastoma
  • nb
gastric antral vascular ectasia
  • watermelon stomach
limited scleroderma
  • limited cutaneous systemic sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search CENPS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CENPS

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  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
  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
  5. A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability. (PMID: 20347428) Yan Z … Wang W (Molecular cell 2010) 3 4

ExternalLinks

View latest publications for CENPS gene in Mastermind

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