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Aliases for CEP63 Gene

Aliases for CEP63 Gene

  • Centrosomal Protein 63 2 3 5
  • Centrosomal Protein 63kDa 2 3
  • Centrosomal Protein Of 63 KDa 3
  • 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 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii. 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 DEUP1.

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

Additional gene information for CEP63 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H134482 1.6 FANTOM5 ENCODE dbSUPER 41.7 -0.5 -500 6 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ANAPC13 CEP63 RYK HMGB3P14 TOPBP1 MIR4788
GH03H134598 0.5 FANTOM5 42 +113.1 113137 0.2 CTCF ZIC2 CEP63 ANAPC13 EPHB1 GC03M134600
GH03H134307 1.6 FANTOM5 ENCODE dbSUPER 11 -172.5 -172510 10.5 FOXA2 ARID4B SIN3A BRCA1 YY1 GLIS2 ZNF143 FOS DEK SP5 ENSG00000260633 ANAPC13 CEP63 LINC02004 LOC105374118
GH03H134241 1.1 Ensembl ENCODE 10.2 -243.2 -243193 1.8 GTF2F1 MXI1 SAP130 JUN MAX ZNF384 CEBPG ZNF644 FOSL1 NFYB CEP63 ANAPC13 RYK GC03P134171
GH03H134380 1 ENCODE dbSUPER 10.2 -104.1 -104062 2.8 SMARCE1 ZNF687 NFIB NRF1 MNT ELF1 DPF2 ZBTB40 ZNF217 E2F1 ENSG00000260633 ANAPC13 CEP63 RYK HMGN1P9 GC03P134378
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000158740 467 2401 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Genomic Locations for CEP63 Gene

Genomic Locations for CEP63 Gene
chr3:134,485,733-134,575,017
(GRCh38/hg38)
Size:
89,285 bases
Orientation:
Plus strand
chr3:134,204,575-134,293,859
(GRCh37/hg19)

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 DEUP1 paralogs are both involved in centriole amplification: while CEP63 mediates mother-centriole-dependent centriole duplication, DEUP1 mediates de novo centriole amplification in multiciliated cells.

    Alternative splice isoforms for CEP63 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP63 Gene

Post-translational modifications for CEP63 Gene

  • Ubiquitination at posLast=435435
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP63 Gene

Domains & Families for CEP63 Gene

Gene Families for CEP63 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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 From GWAS Catalog for CEP63 Gene

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
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 CEP63 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CEP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole ISS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 14654843
GO:0005814 centriole IBA,ISS --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CEP63: view

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:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
GO:0007099 centriole replication ISS --
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CEP63 Gene



NURSA nuclear receptor signaling pathways regulating expression of CEP63 Gene:

CEP63

SOURCE GeneReport for Unigene cluster for CEP63 Gene:

Hs.443301

Evidence on tissue expression from TISSUES for CEP63 Gene

  • Blood(4.1)
  • Pancreas(4.1)
  • Nervous system(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP63 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CEP63: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 33 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia CEP63 33 34
  • 90 (n)
cow
(Bos Taurus)
Mammalia CEP63 33 34
  • 88.43 (n)
mouse
(Mus musculus)
Mammalia Cep63 33 16 34
  • 83.93 (n)
rat
(Rattus norvegicus)
Mammalia Cep63 33
  • 81.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CEP63 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEP63 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP63 33 34
  • 63.29 (n)
lizard
(Anolis carolinensis)
Reptilia CEP63 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494857 33
  • 54.59 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6728 33
zebrafish
(Danio rerio)
Actinopterygii cep63 33
  • 50.33 (n)
-- 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5362 34
  • 40 (a)
OneToMany
Species where no ortholog for CEP63 was found in the sources mined by GeneCards:
  • 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
rs377332009 Pathogenic 134,625,131(+) CAGGG(A/G/T)TAGGC intron-variant, reference, synonymous-codon
rs752207334 Pathogenic 134,549,061(+) ATACA(A/G/T)TTTGG splice-acceptor-variant
rs886037917 Pathogenic 134,608,668(-) CCAGA(-/G)ACTTC intron-variant, reference, frameshift-variant
rs146845434 Likely benign 134,545,597(+) CTTGT(A/C/T)AATCG nc-transcript-variant, reference, synonymous-codon
rs142766824 Uncertain significance 134,546,264(+) TAACA(C/G/T)TCAAC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv955350 CNV deletion 24416366
nsv829730 CNV loss 17160897
nsv1002382 CNV gain 25217958
esv33705 CNV loss 17666407
dgv2605n106 CNV deletion 24896259

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
seckel syndrome 6
  • seckel syndrome type 6
microcephalic osteodysplastic primordial dwarfism, type ii
  • microcephalic osteodysplastic primordial dwarfism type ii
congenital nervous system abnormality
  • congenital neurologic anomaly
seckel syndrome
  • bird-headed dwarfism
meier-gorlin syndrome 1
  • meier-gorlin syndrome
- 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 JS … Mann M (Nature 2003) 2 3 4 60
  2. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A … Reiter JF (eLife 2015) 3 4 60
  3. Proximity interactions among centrosome components identify regulators of centriole duplication. (PMID: 24613305) Firat-Karalar EN … Stearns T (Current biology : CB 2014) 3 4 60
  4. The Cep63 paralogue Deup1 enables massive de novo centriole biogenesis for vertebrate multiciliogenesis. (PMID: 24240477) Zhao H … Zhu X (Nature cell biology 2013) 2 3 60
  5. Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance. (PMID: 21406398) Löffler H … Krämer A (Cancer research 2011) 3 4 60

Products for CEP63 Gene

Sources for CEP63 Gene

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