Human Gene CEP63 (ENST00000675561.1_8) from GENCODE V47lift37
  Description: centrosomal protein 63, transcript variant 5 (from RefSeq NM_001353108.3)
Gencode Transcript: ENST00000675561.1_8
Gencode Gene: ENSG00000182923.20_19
Transcript (Including UTRs)
   Position: hg19 chr3:134,204,899-134,283,873 Size: 78,975 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr3:134,214,163-134,280,377 Size: 66,215 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:134,204,899-134,283,873)mRNA (may differ from genome)Protein (703 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CEP63_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein of 63 kDa; Short=Cep63;
FUNCTION: Required for normal spindle assembly. Maintains centrosome numbers 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 (By similarity).
SUBUNIT: Interacts with CEP152 and CDK1; these interactions recruit both ligands to centrosomes. May also interact with CDK2.
INTERACTION: Q9NRI5:DISC1; NbExp=7; IntAct=EBI-741977, EBI-529989;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. 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.
DISEASE: Defects in CEP63 are the cause of Seckel syndrome type 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.
SIMILARITY: Belongs to the CEP63 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CEP63
Diseases sorted by gene-association score: seckel syndrome 6* (1069), microcephalic osteodysplastic primordial dwarfism, type ii (7), congenital nervous system abnormality (7), seckel syndrome (7), meier-gorlin syndrome 1 (5), physical disorder (4), microcephaly (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.60171-0.331 Picture PostScript Text
3' UTR -943.383496-0.270 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF17045 - Centrosomal protein of 63 kDa

ModBase Predicted Comparative 3D Structure on Q96MT8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000077 DNA damage checkpoint
GO:0000086 G2/M transition of mitotic cell cycle
GO:0006974 cellular response to DNA damage stimulus
GO:0007049 cell cycle
GO:0007099 centriole replication
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0042770 signal transduction in response to DNA damage
GO:0051225 spindle assembly
GO:0051301 cell division
GO:0097711 ciliary basal body docking
GO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation

Cellular Component:
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  BC014050 - Homo sapiens centrosomal protein 63kDa, mRNA (cDNA clone MGC:19876 IMAGE:3639744), complete cds.
AK023738 - Homo sapiens cDNA FLJ13676 fis, clone PLACE1011922, weakly similar to MYOSIN HEAVY CHAIN, NONMUSCLE TYPE B.
AK023448 - Homo sapiens cDNA FLJ13386 fis, clone PLACE1001104, weakly similar to MYOSIN HEAVY CHAIN, NON-MUSCLE.
BC068997 - Homo sapiens centrosomal protein 63kDa, mRNA (cDNA clone MGC:78416 IMAGE:5951988), complete cds.
AK056465 - Homo sapiens cDNA FLJ31903 fis, clone NT2RP7004260, weakly similar to MYOSIN HEAVY CHAIN, NONMUSCLE TYPE B.
HQ447283 - Synthetic construct Homo sapiens clone IMAGE:100070594; CCSB007011_02 centrosomal protein 63kDa (CEP63) gene, encodes complete protein.
KJ894801 - Synthetic construct Homo sapiens clone ccsbBroadEn_04195 CEP63 gene, encodes complete protein.
CU680758 - Synthetic construct Homo sapiens gateway clone IMAGE:100019672 5' read CEP63 mRNA.
JD049110 - Sequence 30134 from Patent EP1572962.
AK054897 - Homo sapiens cDNA FLJ30335 fis, clone BRACE2007281.
JD304731 - Sequence 285755 from Patent EP1572962.
JD204260 - Sequence 185284 from Patent EP1572962.
AK123837 - Homo sapiens cDNA FLJ41843 fis, clone NT2RI3003027.
DQ571424 - Homo sapiens piRNA piR-31536, complete sequence.
JD353168 - Sequence 334192 from Patent EP1572962.
JD218228 - Sequence 199252 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96MT8 (Reactome details) participates in the following event(s):

R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-5617833 Cilium Assembly
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-68886 M Phase
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: CEP63 , CEP63_HUMAN, D3DND8, D3DND9, D3DNE0, NM_001353108, Q96CR0, Q96MT8, Q9H8F5, Q9H8N0, uc329zwy.1, uc329zwy.2
UCSC ID: ENST00000675561.1_8
RefSeq Accession: NM_001353108.3
Protein: Q96MT8 (aka CEP63_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.