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CENPC centromere protein C [ Homo sapiens (human) ]

Gene ID: 1060, updated on 3-Apr-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
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Genomic context

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Location:
4q13.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (67468762..67545503, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (70911881..70988601, complement)
105.20220307 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 is a blueprint for constitutive centromere-associated network assembly within human kinetochores. Klare K, et al. J Cell Biol, 2015 Jul 6. PMID 26124289, Free PMC Article
  2. Death receptor-induced apoptosis reveals a novel interplay between the chromosomal passenger complex and CENP-C during interphase. Faragher AJ, et al. Mol Biol Cell, 2007 Apr. PMID 17287400, Free PMC Article
  3. 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
  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. 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

See all (79) 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)

Genotypes

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 
part_of 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_2023_10

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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