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    CENPS centromere protein S [ Homo sapiens (human) ]

    Gene ID: 378708, updated on 27-Nov-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
    NEW
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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)

    NEW Try the new Transcript table

    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)