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Aliases for CEP63 Gene

Aliases for CEP63 Gene

  • Centrosomal Protein 63 2 3
  • Centrosomal Protein 63kDa 2 3 5
  • Centrosome Protein CEP63 3
  • SCKL6 3
  • Cep63 4

External Ids for CEP63 Gene

Previous GeneCards Identifiers for CEP63 Gene

  • GC03P135688
  • GC03P134204
  • GC03P131583

Summaries for CEP63 Gene

Entrez Gene Summary for CEP63 Gene

  • This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for CEP63 Gene

CEP63 (Centrosomal Protein 63) is a Protein Coding gene. Diseases associated with CEP63 include Seckel Syndrome 6 and Autosomal Recessive Primary Microcephaly. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. An important paralog of this gene is CCDC67.

UniProtKB/Swiss-Prot for CEP63 Gene

  • Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398).

Gene Wiki entry for CEP63 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP63 Gene

Genomics for CEP63 Gene

Regulatory Elements for CEP63 Gene

Enhancers for CEP63 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CEP63 on UCSC Golden Path with GeneCards custom track

Promoters for CEP63 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEP63 on UCSC Golden Path with GeneCards custom track

Genomic Location for CEP63 Gene

Chromosome:
3
Start:
134,485,733 bp from pter
End:
134,575,017 bp from pter
Size:
89,285 bases
Orientation:
Plus strand

Genomic View for CEP63 Gene

Genes around CEP63 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP63 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP63 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP63 Gene

Proteins for CEP63 Gene

  • Protein details for CEP63 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MT8-CEP63_HUMAN
    Recommended name:
    Centrosomal protein of 63 kDa
    Protein Accession:
    Q96MT8
    Secondary Accessions:
    • D3DND8
    • D3DND9
    • D3DNE0
    • Q96CR0
    • Q9H8F5
    • Q9H8N0

    Protein attributes for CEP63 Gene

    Size:
    703 amino acids
    Molecular mass:
    81344 Da
    Quaternary structure:
    • Interacts with CEP152 and CDK1; these interactions recruit both ligands to centrosomes (PubMed:21406398). Interacts with CDK2, CDK5RAP2, WDR62, CEP90, KIAA0753/moonraker and CCDC14. CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles (PubMed:21406398, PubMed:26297806).
    Miscellaneous:
    • CEP63 and CCDC67/DEUP1 paralogs are both involved in centriole amplification: while CEP63 mediates mother-centriole-dependent centriole duplication, CCDC67/DEUP1 mediates de novo centriole amplification in multiciliated cells.

    Alternative splice isoforms for CEP63 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP63 Gene

Proteomics data for CEP63 Gene at MOPED

Post-translational modifications for CEP63 Gene

  • Ubiquitination at Lys 435
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for CEP63

No data available for DME Specific Peptides for CEP63 Gene

Domains & Families for CEP63 Gene

Protein Domains for CEP63 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP63 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96MT8

UniProtKB/Swiss-Prot:

CEP63_HUMAN :
  • Belongs to the CEP63 family.
Family:
  • Belongs to the CEP63 family.
genes like me logo Genes that share domains with CEP63: view

No data available for Gene Families for CEP63 Gene

Function for CEP63 Gene

Molecular function for CEP63 Gene

UniProtKB/Swiss-Prot Function:
Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398).

Phenotypes for CEP63 Gene

genes like me logo Genes that share phenotypes with CEP63: view

Human Phenotype Ontology for CEP63 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP63 Gene

Localization for CEP63 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP63 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Colocalizes with CDK5RAP2, CEP152 and WDR62 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. {ECO:0000269 PubMed:21983783, ECO:0000269 PubMed:26297806}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP63 Gene COMPARTMENTS Subcellular localization image for CEP63 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for CEP63 Gene

Pathways & Interactions for CEP63 Gene

genes like me logo Genes that share pathways with CEP63: view

Gene Ontology (GO) - Biological Process for CEP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint ISS --
GO:0000278 mitotic cell cycle TAS --
GO:0007067 mitotic nuclear division IEA --
GO:0051225 spindle assembly ISS --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with CEP63: view

No data available for SIGNOR curated interactions for CEP63 Gene

Drugs & Compounds for CEP63 Gene

No Compound Related Data Available

Transcripts for CEP63 Gene

Unigene Clusters for CEP63 Gene

Centrosomal protein 63kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEP63 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19
SP1: - - -
SP2: - - - - - - - -
SP3: - -
SP4: - - -
SP5: - -
SP6:
SP7: - - - - - - - - - - - - - - -
SP8:

Relevant External Links for CEP63 Gene

GeneLoc Exon Structure for
CEP63
ECgene alternative splicing isoforms for
CEP63

Expression for CEP63 Gene

mRNA expression in normal human tissues for CEP63 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP63 Gene

This gene is overexpressed in Ovary (39.1), Prostate (13.4), and Spleen (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEP63 Gene



SOURCE GeneReport for Unigene cluster for CEP63 Gene Hs.443301

genes like me logo Genes that share expression patterns with CEP63: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CEP63 Gene

Orthologs for CEP63 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP63 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CEP63 35
  • 88.43 (n)
  • 85.21 (a)
CEP63 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP63 35
  • 90 (n)
  • 86.2 (a)
CEP63 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cep63 35
  • 83.93 (n)
  • 81.83 (a)
Cep63 16
Cep63 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP63 35
  • 99.53 (n)
  • 99.15 (a)
CEP63 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep63 35
  • 81.82 (n)
  • 81.52 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP63 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP63 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP63 35
  • 63.29 (n)
  • 57.45 (a)
CEP63 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP63 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494857 35
  • 54.59 (n)
  • 45.74 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6728 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
cep63 35
  • 50.33 (n)
  • 38.18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5362 36
  • 40 (a)
OneToMany
Species with no ortholog for CEP63:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP63 Gene

ENSEMBL:
Gene Tree for CEP63 (if available)
TreeFam:
Gene Tree for CEP63 (if available)

Paralogs for CEP63 Gene

Paralogs for CEP63 Gene

(1) SIMAP similar genes for CEP63 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CEP63: view

Variants for CEP63 Gene

Sequence variations from dbSNP and Humsavar for CEP63 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1127826 - 134,559,428(+) ATCTT(A/C/T)GGTAT intron-variant, downstream-variant-500B, reference, missense
rs1880376 -- 134,551,505(+) TGAAT(A/C/G)TAAGT intron-variant
rs1880377 -- 134,551,626(+) AACTT(C/T)GCTGC intron-variant
rs1133424 -- 134,538,954(-) GCTTC(A/T)ATACC intron-variant
rs1133425 -- 134,538,947(-) ACCCT(A/G)GCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP63 Gene

Variant ID Type Subtype PubMed ID
nsv877510 CNV Gain 21882294
dgv5259n71 CNV Loss 21882294
nsv829730 CNV Loss 17160897
esv33705 CNV Loss 17666407

Variation tolerance for CEP63 Gene

Residual Variation Intolerance Score: 85.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.82; 89.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP63 Gene

Human Gene Mutation Database (HGMD)
CEP63

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP63 Gene

Disorders for CEP63 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CEP63 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CEP63 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEP63_HUMAN
  • Seckel syndrome 6 (SCKL6) [MIM:614728]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:21983783}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CEP63

Genetic Association Database (GAD)
CEP63
Human Genome Epidemiology (HuGE) Navigator
CEP63
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP63
genes like me logo Genes that share disorders with CEP63: view

No data available for Genatlas for CEP63 Gene

Publications for CEP63 Gene

  1. Proteomic characterization of the human centrosome by protein correlation profiling. (PMID: 14654843) Andersen J.S. … Mann M. (Nature 2003) 2 3 4 67
  2. The Cep63 paralogue Deup1 enables massive deA novo centriole biogenesis for vertebrate multiciliogenesis. (PMID: 24240477) Zhao H. … Zhu X. (Nat. Cell Biol. 2013) 2 3
  3. Cep63 recruits cdk1 to the centrosome-letter. (PMID: 25643699) Alsara M. … KrAomer A. (Cancer Res. 2015) 3
  4. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A. … Reiter J.F. (Elife 2015) 3
  5. Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family. (PMID: 26400686) Einarsdottir E. … Matsson H. (Hum. Genet. 2015) 3

Products for CEP63 Gene

Sources for CEP63 Gene

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