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] See more...

Aliases for CENPC Gene

Aliases for CENPC Gene

  • Centromere Protein C 2 3 4 5
  • Centromere Protein C 1 2 3 4
  • CENP-C 2 3 4
  • Interphase Centromere Complex Protein 7 3 4
  • Centromere Autoantigen C 3 4
  • CENP-C 1 3 4
  • CENPC1 3 4
  • Hcp-4 2 3
  • MIF2 2 3
  • Centromere Autoantigen C1 3
  • CENPC 5
  • ICEN7 4

External Ids for CENPC Gene

Previous HGNC Symbols for CENPC Gene

  • CENPC1

Previous GeneCards Identifiers for CENPC Gene

  • GC04M068337

Summaries for CENPC Gene

Entrez Gene Summary for CENPC Gene

  • 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]

GeneCards Summary for CENPC Gene

CENPC (Centromere Protein C) is a Protein Coding gene. Diseases associated with CENPC include Limited Scleroderma and Hyperinsulinemic Hypoglycemia, Familial, 5. Among its related pathways are Signaling by GPCR and Mitotic Prometaphase. Gene Ontology (GO) annotations related to this gene include centromeric DNA binding.

UniProtKB/Swiss-Prot Summary for CENPC Gene

  • Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPC recruits DNA methylation and DNMT3B to both centromeric and pericentromeric satellite repeats and regulates the histone code in these regions.

Gene Wiki entry for CENPC Gene

Additional gene information for CENPC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CENPC Gene

Genomics for CENPC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CENPC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CENPC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CENPC

Genomic Locations for CENPC Gene

Genomic Locations for CENPC Gene
chr4:67,468,762-67,545,503
(GRCh38/hg38)
Size:
76,742 bases
Orientation:
Minus strand
chr4:68,337,521-68,411,324
(GRCh37/hg19)
Size:
73,804 bases
Orientation:
Minus strand

Genomic View for CENPC Gene

Genes around CENPC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CENPC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CENPC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CENPC Gene

Proteins for CENPC Gene

  • Protein details for CENPC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03188-CENPC_HUMAN
    Recommended name:
    Centromere protein C
    Protein Accession:
    Q03188
    Secondary Accessions:
    • Q6PIR0
    • Q8IW27
    • Q9P0M5

    Protein attributes for CENPC Gene

    Size:
    943 amino acids
    Molecular mass:
    106834 Da
    Quaternary structure:
    • Oligomer. Component of the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU (PubMed:16622419). The CENPA-NAC complex interacts with the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. Binds to DAXX (PubMed:9645950). Interacts with DNMT3B (PubMed:19482874). Interacts directly with CENPA (PubMed:19503796). Identified in a centromere complex containing histones H2A, H2B and H4, and at least CENPA, CENPB, CENPC, CENPT, CENPN, HJURP, SUPT16H, SSRP1 and RSF1 (PubMed:27499292). Interacts with MEIKIN (By similarity).

    Three dimensional structures from OCA and Proteopedia for CENPC Gene

    Alternative splice isoforms for CENPC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CENPC Gene

Post-translational modifications for CENPC Gene

  • Ubiquitination at Lys10, Lys119, Lys507, Lys727, Lys746, Lys807, and Lys871
  • Modification sites at PhosphoSitePlus

Other Protein References for CENPC Gene

Antibody Products

  • Abcam antibodies for CENPC
  • Santa Cruz Biotechnology (SCBT) Antibodies for CENPC

No data available for DME Specific Peptides for CENPC Gene

Domains & Families for CENPC Gene

Gene Families for CENPC Gene

Protein Domains for CENPC Gene

InterPro:
Blocks:
  • Cupin 2, conserved barrel
ProtoNet:

Suggested Antigen Peptide Sequences for CENPC Gene

GenScript: Design optimal peptide antigens:
  • Interphase centromere complex protein 7 (CENPC_HUMAN)
  • Centromere protein C 1, isoform CRA_a (Q8IW27_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q03188

UniProtKB/Swiss-Prot:

CENPC_HUMAN :
  • The MIF2 homology domain II targets centromeres and binds the alpha satellite DNA in vivo. The MIF2 homology domain III can induce CENPC dimerization/oligomerization.
  • Belongs to the CENP-C/MIF2 family.
Domain:
  • The MIF2 homology domain II targets centromeres and binds the alpha satellite DNA in vivo. The MIF2 homology domain III can induce CENPC dimerization/oligomerization.
Family:
  • Belongs to the CENP-C/MIF2 family.
genes like me logo Genes that share domains with CENPC: view

Function for CENPC Gene

Molecular function for CENPC Gene

UniProtKB/Swiss-Prot Function:
Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPC recruits DNA methylation and DNMT3B to both centromeric and pericentromeric satellite repeats and regulates the histone code in these regions.

Phenotypes From GWAS Catalog for CENPC Gene

Gene Ontology (GO) - Molecular Function for CENPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 1339310
GO:0005515 protein binding IPI 19503796
GO:0019237 centromeric DNA binding IEA,IBA 21873635
GO:0042802 identical protein binding IPI 19503796
genes like me logo Genes that share ontologies with CENPC: view
genes like me logo Genes that share phenotypes with CENPC: view

Animal Models for CENPC Gene

MGI Knock Outs for CENPC:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CENPC

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CENPC Gene

Localization for CENPC Gene

Subcellular locations from UniProtKB/Swiss-Prot for CENPC Gene

Nucleus. Chromosome, centromere, kinetochore. Chromosome, centromere. Note=Localizes exclusively in the kinetochore domain of centromeres. {ECO:0000269 PubMed:21529714}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CENPC gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CENPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA,IDA 21529714
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000778 condensed nuclear chromosome kinetochore IBA 21873635
GO:0000780 condensed nuclear chromosome, centromeric region IDA 11682612
genes like me logo Genes that share ontologies with CENPC: view

Pathways & Interactions for CENPC Gene

genes like me logo Genes that share pathways with CENPC: view

Gene Ontology (GO) - Biological Process for CENPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 21529714
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IMP 21529714
GO:0034080 CENP-A containing nucleosome assembly TAS --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with CENPC: view

No data available for SIGNOR curated interactions for CENPC Gene

Drugs & Compounds for CENPC Gene

No Compound Related Data Available

Transcripts for CENPC Gene

mRNA/cDNA for CENPC Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CENPC

Alternative Splicing Database (ASD) splice patterns (SP) for CENPC Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for CENPC Gene

GeneLoc Exon Structure for
CENPC

Expression for CENPC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CENPC Gene

Protein differential expression in normal tissues from HIPED for CENPC Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.6), Skin (9.2), Blymphocyte (8.4), CD8 Tcells (7.0), and Testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CENPC Gene



Protein tissue co-expression partners for CENPC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CENPC

Evidence on tissue expression from TISSUES for CENPC Gene

  • Blood(4.5)
  • Kidney(2.4)
  • Nervous system(2.2)
  • Skin(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with CENPC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CENPC Gene

Orthologs for CENPC Gene

This gene was present in the common ancestor of chordates.

Orthologs for CENPC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CENPC1 30 31
  • 99.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CENPC1 30 31
  • 82.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CENPC 30 31
  • 82.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cenpc 30
  • 72.52 (n)
Mouse
(Mus musculus)
Mammalia Cenpc1 30 17 31
  • 69.97 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CENPC 31
  • 37 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CENPC 31
  • 31 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CENPC1 31
  • 24 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CENPC 31
  • 42 (a)
OneToOne
Species where no ortholog for CENPC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CENPC Gene

ENSEMBL:
Gene Tree for CENPC (if available)
TreeFam:
Gene Tree for CENPC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CENPC: view image

Paralogs for CENPC Gene

(1) SIMAP similar genes for CENPC Gene using alignment to 3 proteins:

  • CENPC_HUMAN
  • H0Y8J2_HUMAN
  • H0Y9W1_HUMAN

Pseudogenes.org Pseudogenes for CENPC Gene

genes like me logo Genes that share paralogs with CENPC: view

No data available for Paralogs for CENPC Gene

Variants for CENPC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CENPC Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
758227 Likely Benign: not provided 67,514,213(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1056787 - p.Gly389Asp
rs11250 - p.Leu341Phe

Additional dbSNP identifiers (rs#s) for CENPC Gene

Structural Variations from Database of Genomic Variants (DGV) for CENPC Gene

Variant ID Type Subtype PubMed ID
dgv5241n100 CNV gain 25217958
esv22504 CNV loss 19812545
esv2356691 CNV deletion 18987734
esv24989 CNV loss 19812545
esv2512052 CNV deletion 19546169
esv2605147 CNV deletion 19546169
esv2669747 CNV deletion 23128226
esv2674936 CNV deletion 23128226
esv2727765 CNV deletion 23290073
esv3600850 CNV loss 21293372
esv3600851 CNV loss 21293372
nsv950046 CNV duplication 24416366

Variation tolerance for CENPC Gene

Residual Variation Intolerance Score: 87.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CENPC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CENPC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CENPC Gene

Disorders for CENPC Gene

MalaCards: The human disease database

(8) MalaCards diseases for CENPC Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
limited scleroderma
  • crest syndrome
hyperinsulinemic hypoglycemia, familial, 5
  • persistent hyperinsulinemic hypoglycemia of infancy
crest syndrome
  • scleroderma, familial progressive
cowden syndrome 1
  • cws1
dyskinesia of esophagus
  • dyskinesia of oesophagus
- elite association - COSMIC cancer census association via MalaCards
Search CENPC in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CENPC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CENPC Gene

Publications for CENPC Gene

  1. Co-localization of CENP-C and CENP-H to discontinuous domains of CENP-A chromatin at human neocentromeres. (PMID: 17651496) Alonso A … Warburton PE (Genome biology 2007) 3 4 23
  2. The human CENP-A centromeric nucleosome-associated complex. (PMID: 16622419) Foltz DR … Cleveland DW (Nature cell biology 2006) 3 4 23
  3. Interphase-specific association of intrinsic centromere protein CENP-C with HDaxx, a death domain-binding protein implicated in Fas-mediated cell death. (PMID: 9645950) Pluta AF … Goldberg IG (Journal of cell science 1998) 3 4 23
  4. CENP-C, an autoantigen in scleroderma, is a component of the human inner kinetochore plate. (PMID: 1339310) Saitoh H … Earnshaw WC (Cell 1992) 3 4 23
  5. Induced ectopic kinetochore assembly bypasses the requirement for CENP-A nucleosomes. (PMID: 21529714) Gascoigne KE … Cheeseman IM (Cell 2011) 3 4

Products for CENPC Gene

  • Signalway Proteins for CENPC

Sources for CENPC Gene