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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]
CEP63 (Centrosomal Protein 63) is a Protein Coding gene. Diseases associated with CEP63 include Seckel Syndrome 6 and Primary Autosomal Recessive Microcephaly. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is DEUP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 12812986 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of PLK1 Activity at G2/M Transition |
.50
|
|
2 | Cell Cycle, Mitotic |
.83
|
|
3 | Organelle biogenesis and maintenance |
.56
|
|
4 | ATM Signaling Network in Development and Disease |
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 | IBA,ISS | -- |
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: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CEP63 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CEP63 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CEP63 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cep63 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cep63 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CEP63 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CEP63 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CEP63 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CEP63 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100494857 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.6728 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cep63 30 |
|
||
-- 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5362 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709140 | Likely Benign: not provided | 134,604,170(+) | C/T | SYNONYMOUS_VARIANT | |
711861 | Likely Benign: not provided | 134,608,640(+) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
712055 | Likely Benign: not provided | 134,507,154(+) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
725712 | Benign: not provided | 134,550,146(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
727076 | Benign: not provided | 134,647,423(+) | AAG/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2605n106 | CNV | deletion | 24896259 |
esv33705 | CNV | loss | 17666407 |
nsv1002382 | CNV | gain | 25217958 |
nsv829730 | CNV | loss | 17160897 |
nsv955350 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
seckel syndrome 6 |
|
|
primary autosomal recessive microcephaly |
|
|
seckel syndrome |
|
|
dyslexia |
|
|
myopathy, myofibrillar, 7 |
|
|