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Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXO15 (F-Box Protein 15) is a Protein Coding gene. Diseases associated with FBXO15 include Goldberg-Shprintzen Syndrome and Germ Cell And Embryonal Cancer. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is FBXW5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 32814053 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Oct4 in Mammalian ESC Pluripotency |
Oct4 in Mammalian ESC Pluripotency
-
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3 | Innate Immune System |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | TAS | -- |
GO:0043687 | post-translational protein modification | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FBXO15 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FBXO15 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fbxo15 30 |
|
||
Cow (Bos Taurus) |
Mammalia | FBXO15 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fbxo15 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FBXO15 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO15 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FBXO15 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FBXO15 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbxo15 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:161973 30 |
|
||
FBXO15 (2 of 2) 31 |
|
OneToMany | |||
fbxo15 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs114044705 | Benign: not provided | 74,073,539(-) |
G/A NM_001142958.2(FBXO15):c.1455C>T (p.Thr485=) |
SYNONYMOUS | |
rs35815390 | - |
p.Tyr496His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3400n100 | CNV | gain | 25217958 |
esv27743 | CNV | loss | 19812545 |
esv3643105 | CNV | loss | 21293372 |
esv3643108 | CNV | loss | 21293372 |
nsv1058079 | CNV | gain | 25217958 |
nsv2355 | CNV | deletion | 18451855 |
nsv577650 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
goldberg-shprintzen syndrome |
|
|
germ cell and embryonal cancer |
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