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CENPS centromere protein S [ Homo sapiens (human) ]

Gene ID: 378708, updated on 10-Dec-2024

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
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Genomic context

See CENPS in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene kinesin family member 1B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:10367507-10368007 Neighboring gene MPRA-validated peak67 silencer Neighboring gene RNA, 7SL, cytoplasmic 731, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:10378039-10378580 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:10385546-10386745 Neighboring gene MPRA-validated peak69 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10437772-10438272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 147 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:10459711-10459887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 245 Neighboring gene MPRA-validated peak70 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10485963-10486568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10486569-10487174 Neighboring gene Sharpr-MPRA regulatory region 15261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 148 Neighboring gene phosphogluconate dehydrogenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10493213-10493793 Neighboring gene CENPS-CORT readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 149 Neighboring gene cortistatin Neighboring gene DNA fragmentation factor subunit alpha

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC32686

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

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)

  1. NM_199294.3NP_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:1792
    CENP-S; CENP-S protein

RNA

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    10430433..10442808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    9974048..9986421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)