Protein-coding gene in the species Homo sapiens
| CEP63 |
|---|
|
| Identifiers |
|---|
| Aliases | CEP63, SCKL6, centrosomal protein 63 |
|---|
| External IDs | OMIM: 614724; MGI: 2158560; HomoloGene: 11861; GeneCards: CEP63; OMA:CEP63 - orthologs |
|---|
| Gene location (Human) |
|---|
 | | Chr. | Chromosome 3 (human)[1] |
|---|
| | Band | 3q22.2 | Start | 134,485,699 bp[1] |
|---|
| End | 134,587,789 bp[1] |
|---|
|
| Gene location (Mouse) |
|---|
 | | Chr. | Chromosome 9 (mouse)[2] |
|---|
| | Band | 9 F1|9 54.61 cM | Start | 102,461,787 bp[2] |
|---|
| End | 102,503,733 bp[2] |
|---|
|
| RNA expression pattern |
|---|
| Bgee | | Human | Mouse (ortholog) |
|---|
| Top expressed in | - Achilles tendon
- epithelium of colon
- sural nerve
- muscle of thigh
- monocyte
- left testis
- gastrocnemius muscle
- ganglionic eminence
- gonad
- right testis
|
| | Top expressed in | - spermatid
- seminiferous tubule
- spermatocyte
- tail of embryo
- neural layer of retina
- genital tubercle
- otolith organ
- utricle
- ventricular zone
- muscle of thigh
|
| | More reference expression data |
|
|---|
| BioGPS | 
 | | More reference expression data |
|
|---|
|
| Gene ontology |
|---|
| Molecular function | | | Cellular component | - cytoplasm
- microtubule organizing center
- centriole
- cytosol
- centrosome
- spindle pole
- cytoskeleton
| | Biological process | - spindle assembly
- cell division
- cell cycle
- DNA damage checkpoint signaling
- G2/M transition of mitotic cell cycle
- de novo centriole assembly involved in multi-ciliated epithelial cell differentiation
- signal transduction in response to DNA damage
- cellular response to DNA damage stimulus
- centriole replication
- ciliary basal body-plasma membrane docking
- regulation of G2/M transition of mitotic cell cycle
| | Sources:Amigo / QuickGO |
|
| Orthologs |
|---|
| Species | Human | Mouse |
|---|
| Entrez | | |
|---|
| Ensembl | | |
|---|
| UniProt | | |
|---|
| RefSeq (mRNA) | NM_001042383
NM_001042384
NM_001042400
NM_025180
NM_001353108
|
|---|
NM_001353109
NM_001353110
NM_001353111
NM_001353112
NM_001353113
NM_001353117
NM_001353118
NM_001353119
NM_001353120
NM_001353121
NM_001353122
NM_001353123
NM_001353124
NM_001353125
NM_001353126 |
| |
|---|
| RefSeq (protein) | NP_001035842
NP_001035843
NP_001035859
NP_079456
NP_001340037
|
|---|
NP_001340038
NP_001340039
NP_001340040
NP_001340041
NP_001340042
NP_001340046
NP_001340047
NP_001340048
NP_001340049
NP_001340050
NP_001340051
NP_001340052
NP_001340053
NP_001340054
NP_001340055 |
| NP_001074591
NP_001288618
NP_001394628
NP_001394629
NP_001394630
|
|---|
NP_001394631
NP_001394632
NP_001394633
NP_001394634
NP_001394635
NP_001394636
NP_001394637
NP_001394638
NP_001394639
NP_001394640
NP_001394641
NP_001394642
NP_001394643
NP_001394644
NP_001394645
NP_001394646
NP_001394647
NP_001394648
NP_001394649
NP_001394650
NP_001394651
NP_001394652 |
|
|---|
| Location (UCSC) | Chr 3: 134.49 – 134.59 Mb | Chr 9: 102.46 – 102.5 Mb |
|---|
| PubMed search | [3] | [4] |
|---|
|
| Wikidata |
| View/Edit Human | View/Edit Mouse |
|
Centrosomal protein of 63 kDa is a protein that in humans is encoded by the CEP63 gene.[5][6] Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.
Function
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.[6] Recent computational analysis revealed pathogenic property of L61P point mutation in CEP63 protein that affected its native structural conformation.[7]
Interactions
CEP63 has been shown to interact with DISC1,[8] CEP152 and CDK1.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000182923 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032534 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (Dec 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
- ^ a b "Entrez Gene: CEP63 centrosomal protein 63kDa".
- ^ a b Kumar A, Purohit R (April 2012). "Computational investigation of pathogenic nsSNPs in CEP63 protein". Gene. 503 (1): 75–82. doi:10.1016/j.gene.2012.04.032. PMID 22555018.
- ^ Morris JA, Kandpal G, Ma L, Austin CP (July 2003). "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation". Hum. Mol. Genet. 12 (13): 1591–608. doi:10.1093/hmg/ddg162. PMID 12812986.
External links
Further reading
- Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L, Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J, Ducar M (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
- Morris JA, Kandpal G, Ma L, Austin CP (2003). "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation". Hum. Mol. Genet. 12 (13): 1591–608. doi:10.1093/hmg/ddg162. PMID 12812986.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Buim ME, Soares FA, Sarkis AS, Nagai MA (2005). "The transcripts of SFRP1, CEP63 and EIF4G2 genes are frequently downregulated in transitional cell carcinomas of the bladder". Oncology. 69 (6): 445–54. doi:10.1159/000090984. PMID 16410684. S2CID 21133968.
 | This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it. |
