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    CENPC centromere protein C [ Homo sapiens (human) ]

    Gene ID: 1060, updated on 3-Apr-2024

    Summary

    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
    NEW
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    Genomic context

    See CENPC in Genome Data Viewer
    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

    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

    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

    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)

    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_001362481.2NP_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:848932
      CENP-C_C; Mif2/CENP-C like
      pfam15620
      Location:297551
      CENP-C_mid; Centromere assembly component CENP-C middle DNMT3B-binding region
      pfam15622
      Location:7292
      CENP_C_N; Kinetochore assembly subunit CENP-C N-terminal
    2. NM_001812.4NP_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:856940
      CENP-C_C; Mif2/CENP-C like
      pfam15620
      Location:297551
      CENP-C_mid; Centromere assembly component CENP-C middle DNMT3B-binding region
      pfam15622
      Location:7292
      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_047449526.1XP_047305482.1  centromere protein C isoform X1

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

      UniProtKB/TrEMBL
      H0Y8J2
      Related
      ENSP00000421234.1, ENST00000513216.5
      Conserved Domains (2) summary
      pfam15620
      Location:297551
      CENP-C_mid; Centromere assembly component CENP-C middle DNMT3B-binding region
      pfam15622
      Location:7292
      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_054348772.1XP_054204747.1  centromere protein C isoform X1

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