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Aliases for CEP63 Gene

Aliases for CEP63 Gene

  • Centrosomal Protein 63kDa 2 3
  • SCKL6 3 6
  • Centrosomal Protein Of 63 KDa 3
  • Centrosome Protein CEP63 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 63kDa) is a Protein Coding gene. Diseases associated with CEP63 include seckel syndrome 6 and microcephaly, primary autosomal recessive. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. 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, through centrosomal recruitment of CEP152. Also recruits CDK1 to centrosomes. 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.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CEP63 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. May also interact with CDK2.
    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 Lys435
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP63 Gene

Domains 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 :
  • Q96MT8
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, through centrosomal recruitment of CEP152. Also recruits CDK1 to centrosomes. 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.

Gene Ontology (GO) - Molecular Function for CEP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12812986
genes like me logo Genes that share ontologies with CEP63: view

Phenotypes for CEP63 Gene

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

Animal Model Products

CRISPR Products

miRNA for CEP63 Gene

miRTarBase miRNAs that target CEP63

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP63

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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. Note=Colocalizes with CEP152 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP63 Gene COMPARTMENTS Subcellular localization image for CEP63 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CEP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole ISS --
GO:0005813 centrosome IDA 14654843
GO:0005814 centriole ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CEP63: view

Pathways 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:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0006996 organelle organization TAS --
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with CEP63: view

Transcripts for CEP63 Gene

Unigene Clusters for CEP63 Gene

Centrosomal protein 63kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CEP63

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with CEP63: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CEP63 35
  • 99.53 (n)
  • 99.15 (a)
CEP63 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CEP63 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP63 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep63 35
  • 81.82 (n)
  • 81.52 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.6728 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494857 35
  • 54.59 (n)
  • 45.74 (a)
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

Selected 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 MAF
rs1127826 Benign, - 134,559,428(+) ATCTT(C/T)GGTAT intron-variant, reference, missense, downstream-variant-500B
rs1133424 -- 134,538,954(-) GCTTC(A/T)ATACC intron-variant
rs1133425 -- 134,538,947(-) ACCCT(A/G)GCCCT intron-variant
rs1133426 -- 134,538,825(-) AGAAT(C/T)TATAA intron-variant
rs1138271 -- 134,542,486(+) GGCTG(C/T)GGCCT 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

Relevant External Links for CEP63 Gene

HapMap Linkage Disequilibrium report
CEP63
Human Gene Mutation Database (HGMD)
CEP63

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

Disorders for CEP63 Gene

(1) OMIM Diseases for CEP63 Gene (614724)

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

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Genome-wide association analysis identifies 20 loci that influence adult height. (PMID: 18391952) Weedon M.N. … Frayling T.M. (Nat. Genet. 2008) 3 48
  5. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U. … Jarvelin M.R. (PLoS Genet. 2009) 3 48

Products for CEP63 Gene

Sources for CEP63 Gene

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