CENPS centromere protein S [Homo sapiens (human)] - Gene

Summary

Official Symbol: CENPSprovided by HGNC
Official Full Name: centromere protein Sprovided by HGNC
Primary source: HGNC:HGNC:23163
See related: Ensembl:ENSG00000175279 MIM:609130; AllianceGenome:HGNC:23163
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MHF1; APITD1; CENP-S; FAAP16
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]
Expression: Broad expression in testis (RPKM 21.7), kidney (RPKM 12.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (10430433..10442808)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (9974048..9986421)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (10490490..10502865)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MHF prefers branched DNA over dsDNA because it engages two duplex arms. MHF engages DNA forks or various four-way junctions independent of the junction-site structure. The DNA-binding interface of MHF is important for cellular resistance to DNA damage.
Title: The MHF complex senses branched DNA by binding a pair of crossover DNA duplexes.
The MHF complex, which is a heterotetramer that comprises two MHF1-MHF2 heterodimers, is remodeled by FANCM to favor recognition of branched DNA over dsDNA.
Title: The histone-fold complex MHF is remodeled by FANCM to recognize branched DNA and protect genome stability.
CENP-S is not found in a soluble complex with its binding partner CENP-T but it interacts strongly and specifically with immobilized CENP-T in an in vivo binding assay.
Title: A CENP-S/X complex assembles at the centromere in S and G2 phases of the human cell cycle.
It discusses current knowledge of the biological roles of CENP-S and CENP-X and how their dual existence may be a common feature of CCAN (constitutive centromere-associated network) proteins.
Title: Emerging roles for centromere-associated proteins in DNA repair and genetic recombination.
A long, positively charged patch exposed on the surface of the (MHF1-MHF2) complex plays a critical role in double-stranded DNA binding to chromatin.
Title: Structural peculiarities of the (MHF1-MHF2)4 octamer provide a long DNA binding patch to anchor the MHF-FANCM complex to chromatin: a solution SAXS study.
MHF1 and MHF2 form a compact tetramer to which FANCM-F binds through a 'dual-V' shaped structure.
Title: The structure of the FANCM-MHF complex reveals physical features for functional assembly.
provide biochemical evidence that MHF1 and MHF2 assemble into a heterodimer that binds DNA and enhances the DNA branch migration activity of FANCM.
Title: MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Results identified a centromere protein S (CENP-S)-containing subcomplex that includes the new constitutive kinetochore protein CENP-X.
Title: The CENP-S complex is essential for the stable assembly of outer kinetochore structure.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Readthrough CENPS-CORT

Readthrough gene: CENPS-CORT, Included gene: CORT

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	NAS Non-traceable Author Statement more info	PubMed
involved_in interstrand cross-link repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein ubiquitination	TAS Traceable Author Statement more info	PubMed
involved_in replication fork processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in replication fork processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in resolution of meiotic recombination intermediates	IBA Inferred from Biological aspect of Ancestor more info
involved_in resolution of meiotic recombination intermediates	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of FANCM-MHF complex	IBA Inferred from Biological aspect of Ancestor more info
part_of FANCM-MHF complex	IDA Inferred from Direct Assay more info	PubMed
part_of FANCM-MHF complex	IPI Inferred from Physical Interaction more info	PubMed
part_of Fanconi anaemia nuclear complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Fanconi anaemia nuclear complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of inner kinetochore	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: centromere protein S

Names: FANCM associated histone fold protein 1; FANCM-interacting histone fold protein 1; Fanconi anemia-associated polypeptide of 16 kDa; apoptosis-inducing TAF9-like domain-containing protein 1; apoptosis-inducing, TAF9-like domain 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_199294.3 → NP_954988.1 centromere protein S

See identical proteins and their annotated locations for NP_954988.1

Status: REVIEWED

Description

Transcript Variant: This variant (A) represents the shorter transcript but encodes the functional protein.

Source sequence(s)

AL139424, AL354956, BC029430

UniProtKB/Swiss-Prot

Q8N2Z9, Q8NFE5, Q8NFG5

Related

ENSP00000308583.2, ENST00000309048.8

Conserved Domains (1) summary

pfam15630
Location:17 → 92

CENP-S; CENP-S protein

RNA

NR_036462.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (B) uses an alternate 5' exon, compared to variant A. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant A, and also due to the presence of multiple upstream ORFs that are predicted to interfere with the translation of the longest ORF that is in-frame with that of variant A. Translation of an upstream ORF would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL139424, AL354956