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    CENPC centromere protein C [ Homo sapiens (human) ]

    Gene ID: 1060, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CENPCprovided by HGNC
    Official Full Name
    centromere protein Cprovided by HGNC
    Primary source
    HGNC:HGNC:1854
    See related
    Ensembl:ENSG00000145241 MIM:117141; AllianceGenome:HGNC:1854
    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
    MIF2; hcp-4; CENP-C; CENPC1
    Summary
    Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.9), testis (RPKM 4.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CENPC in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (67468762..67545503, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (70911881..70988601, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68334480..68411221, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 63, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 527 Neighboring gene NANOG hESC enhancer GRCh37_chr4:68344255-68344756 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68385691-68386192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68386193-68386692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68410993-68411543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21596 Neighboring gene Sharpr-MPRA regulatory region 12077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15462 Neighboring gene signal transducing adaptor family member 1 Neighboring gene small EDRK-rich factor 2-like Neighboring gene ubiquitin like modifier activating enzyme 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. CENP-C, an autoantigen in scleroderma, is a component of the human inner kinetochore plate. Saitoh H, et al. Cell, 1992 Jul 10. PMID 1339310
    2. FISH mapping of centromere protein C (CENPC) on human chromosome 4q31-->q21. Xie Y, et al. Cytogenet Cell Genet, 1996. PMID 8941372
    3. Human chromosome pellicle antibody recognizing centromere protein-C (CENP-C), the main component of the kinetochore. Xie Y, et al. Cell Res, 1997 Jun. PMID 9261558
    4. Mutational analysis of the central centromere targeting domain of human centromere protein C, (CENP-C). Song K, et al. Exp Cell Res, 2002 Apr 15. PMID 11925107
    5. CENP-C binds the alpha-satellite DNA in vivo at specific centromere domains. Politi V, et al. J Cell Sci, 2002 Jun 1. PMID 12006616

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Elusive Structure of Centro-Chromatin: Molecular Order or Dynamic Heterogenetity?
      Title: The Elusive Structure of Centro-Chromatin: Molecular Order or Dynamic Heterogenetity?
    2. A genetic memory initiates the epigenetic loop necessary to preserve centromere position.
      Title: A genetic memory initiates the epigenetic loop necessary to preserve centromere position.
    3. CDK1-mediated CENP-C phosphorylation modulates CENP-A binding and mitotic kinetochore localization
      Title: CDK1-mediated CENP-C phosphorylation modulates CENP-A binding and mitotic kinetochore localization.
    4. two key conformational changes within the CENP-A nucleosome upon CENP-C binding, are reported.
      Title: CENP-C unwraps the human CENP-A nucleosome through the H2A C-terminal tail.
    5. CENP-N stabilizes CENP-A nucleosomes alone and additively with CENP-C in vitro. However, removal of CENP-C and CENP-N from cells, or mutating CENP-A so that it no longer interacts with CENP-C or CENP-N, had no effect on centromeric CENP-A stability in vivo. Thus, the stability of CENP-A nucleosomes in chromatin does not arise solely from its interactions with CENP-C or CENP-N.
      Title: Constitutive centromere-associated network contacts confer differential stability on CENP-A nucleosomes in vitro and in the cell.
    6. Collectively, these studies clarify how CENP-N and CENP-C decode and stabilize the non-canonical CENP-A nucleosome to enforce epigenetic centromere specification and kinetochore assembly.
      Title: Decoding the centromeric nucleosome through CENP-N.
    7. Levels of centromere aberrations increase upon depletion of CENP-A, CENP-C, and CENP-T/W, during replicative senescence, and in cancer cells.
      Title: Integrity of the human centromere DNA repeats is protected by CENP-A, CENP-C, and CENP-T.
    8. Upon cross-linking, the entire CENPA/CENPB/CENPC/CENPT complex is nuclease-protected over an alpha-satellite dimer that comprises the fundamental unit of centromeric chromatin. We conclude that CENPA/CENPC and CENPT pathways for kinetochore assembly are physically integrated over young alpha-satellite dimers.
      Title: CENPT bridges adjacent CENPA nucleosomes on young human α-satellite dimers.
    9. Whereas CENP-C recruits a single MIS12:NDC80 complex, the authors show here that CENP-T binds one MIS12:NDC80 and two NDC80 complexes upon phosphorylation by the mitotic CDK1:Cyclin B complex at three distinct CENP-T sites.
      Title: Molecular basis of outer kinetochore assembly on CENP-T.
    10. CENP-C specifically binds alpha satellite non-coding RNAs.
      Title: Human Centromeres Produce Chromosome-Specific and Array-Specific Alpha Satellite Transcripts that Are Complexed with CENP-A and CENP-C.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    Phenotypes

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    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables centromeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in attachment of mitotic spindle microtubules to kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromosome segregation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in kinetochore assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in kinetochore assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spindle attachment to meiosis I kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in condensed chromosome, centromeric region 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 kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in pericentric heterochromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centromere protein C
    Names
    CENP-C 1
    centromere autoantigen C
    centromere autoantigen C1
    centromere protein C 1
    interphase centromere complex protein 7

    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_001362481.2 → NP_001349410.1  centromere protein C isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region compared to variant 1. The encoded protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC104806, AC109356
      Conserved Domains (3) summary
      pfam11699
      Location:848 → 932
      CENP-C_C; Mif2/CENP-C like
      pfam15620
      Location:297 → 551
      CENP-C_mid; Centromere assembly component CENP-C middle DNMT3B-binding region
      pfam15622
      Location:7 → 292
      CENP_C_N; Kinetochore assembly subunit CENP-C N-terminal

    2. NM_001812.4 → NP_001803.2  centromere protein C isoform 1

      See identical proteins and their annotated locations for NP_001803.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC104806, AC109356
      Consensus CDS
      CCDS47063.1
      UniProtKB/Swiss-Prot
      Q03188, Q6PIR0, Q8IW27, Q9P0M5
      Related
      ENSP00000273853.6, ENST00000273853.11
      Conserved Domains (3) summary
      pfam11699
      Location:856 → 940
      CENP-C_C; Mif2/CENP-C like
      pfam15620
      Location:297 → 551
      CENP-C_mid; Centromere assembly component CENP-C middle DNMT3B-binding region
      pfam15622
      Location:7 → 292
      CENP_C_N; Kinetochore assembly subunit CENP-C N-terminal

    RNA

    1. NR_155754.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC104806, AC109356

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      67468762..67545503 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449526.1 → XP_047305482.1  centromere protein C isoform X1

    2. XM_011531542.4 → XP_011529844.1  centromere protein C isoform X2

      UniProtKB/TrEMBL
      H0Y8J2
      Related
      ENSP00000421234.1, ENST00000513216.5
      Conserved Domains (2) summary
      pfam15620
      Location:297 → 551
      CENP-C_mid; Centromere assembly component CENP-C middle DNMT3B-binding region
      pfam15622
      Location:7 → 292
      CENP_C_N; Kinetochore assembly subunit CENP-C N-terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      70911881..70988601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348772.1 → XP_054204747.1  centromere protein C isoform X1

    2. XM_054348773.1 → XP_054204748.1  centromere protein C isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q03188.2 GenPept UniProtKB/Swiss-Prot:Q03188

    Gene LinkOut

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