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The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
CEP350 (Centrosomal Protein 350) is a Protein Coding gene. Diseases associated with CEP350 include Epidermal Appendage Tumor and Seckel Syndrome 7. Gene Ontology (GO) annotations related to this gene include microtubule binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25134987 |
GO:0008017 | microtubule binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IEA,IDA | 21399614 |
GO:0005814 | centriole | IEA,IDA | 28625565 |
GO:0005815 | microtubule organizing center | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0034453 | microtubule anchoring | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33a | · | 33b | ^ | 34a | · | 34b | · | 34c | · | 34d | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: | |||||||||
SP11: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CEP350 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CEP350 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CEP350 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cep350 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cep350 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CEP350 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CEP350 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CEP350 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CEP350 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cep350 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-39n1.3 30 |
|
||
CEP350 31 |
|
OneToOne | |||
-- 30 |
|
||||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NIP100 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720147 | Likely Benign: not provided | 180,043,078(+) | A/G | MISSENSE_VARIANT | |
774160 | Likely Benign: not provided | 180,075,169(+) | A/G | MISSENSE_VARIANT | |
789553 | Benign: not provided | 180,014,018(+) | A/G | MISSENSE_VARIANT | |
791823 | Benign: not provided | 180,094,310(+) | G/C | MISSENSE_VARIANT | |
rs16855164 | -. - | p.Thr1445Alap.Thr1446Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv656n54 | CNV | loss | 21841781 |
esv3588061 | CNV | loss | 21293372 |
nsv1000698 | CNV | loss | 25217958 |
nsv3755 | CNV | deletion | 18451855 |
nsv466228 | CNV | loss | 19166990 |
nsv478740 | CNV | novel sequence insertion | 20440878 |
nsv520278 | CNV | gain | 19592680 |
nsv520322 | CNV | loss | 19592680 |
nsv946526 | CNV | duplication | 23825009 |
nsv952274 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epidermal appendage tumor |
|
|
seckel syndrome 7 |
|
|
orofaciodigital syndrome ix |
|
|
cone-rod dystrophy 20 |
|
|
epiphyseal dysplasia, multiple, 4 |
|
|