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This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
CEP104 (Centrosomal Protein 104) is a Protein Coding gene. Diseases associated with CEP104 include Joubert Syndrome 25 and Aceruloplasminemia. Gene Ontology (GO) annotations related to this gene include binding and glutamate binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 26420826 |
GO:0016594 | glycine binding | IEA | -- |
GO:0016595 | glutamate binding | IEA | -- |
GO:0016596 | thienylcyclohexylpiperidine binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000922 | spindle pole | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005814 | centriole | IEA,IDA | 21399614 |
GO:0005815 | microtubule organizing center | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: | |||||||||||
SP6: | |||||||||||
SP7: | - | - | |||||||||
SP8: | |||||||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CEP104 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CEP104 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CEP104 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cep104 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CEP104 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cep104 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CEP104 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CEP104 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CEP104 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cep104 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cep104 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10137 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009750 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | C40H1.3 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2978 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
643732 | Uncertain Significance: Joubert syndrome 25 | 3,836,697(-) | A/T | INTRON_VARIANT | |
647427 | Uncertain Significance: Joubert syndrome 25 | 3,845,293(-) | T/C | MISSENSE_VARIANT | |
663561 | Uncertain Significance: Joubert syndrome 25 | 3,836,595(-) | C/T | MISSENSE_VARIANT | |
707262 | Benign: Joubert syndrome 25 | 3,844,983(-) | C/A | MISSENSE_VARIANT | |
707355 | Benign: Joubert syndrome 25 | 3,829,868(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1074506 | CNV | insertion | 17803354 |
esv1948239 | CNV | deletion | 18987734 |
esv3585042 | CNV | gain | 21293372 |
esv3585052 | CNV | gain | 21293372 |
nsv1012423 | CNV | gain | 25217958 |
nsv1116483 | OTHER | inversion | 24896259 |
nsv1140742 | CNV | deletion | 24896259 |
nsv1141741 | CNV | insertion | 24896259 |
nsv159844 | CNV | deletion | 16902084 |
nsv509590 | CNV | insertion | 20534489 |
nsv545130 | CNV | gain | 21841781 |
nsv830425 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
joubert syndrome 25 |
|
|
aceruloplasminemia |
|
|
dystonia |
|
|
joubert syndrome 1 |
|
|
oculomotor apraxia |
|
|