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Members of the F-box protein family, such as FBXO28, 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]
FBXO28 (F-Box Protein 28) is a Protein Coding gene. Diseases associated with FBXO28 include Chromosome 1Q41-Q42 Deletion Syndrome.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO:0042802 | identical protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000775 | chromosome, centromeric region | IEA | -- |
GO:0000776 | kinetochore | IEA,IDA | 20813266 |
GO:0000777 | condensed chromosome kinetochore | IEA | -- |
GO:0005694 | chromosome | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | - | - | ||||||||||||||
SP3: | - | ||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FBXO28 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | FBXO28 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FBXO28 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fbxo28 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fbxo28 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FBXO28 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FBXO28 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FBXO28 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbxo28 30 |
|
||
Str.16184 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.13216 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fbxo28 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | pall 31 |
|
OneToMany | |
CG11866 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1553292987 | Uncertain Significance: Inborn genetic diseases | 224,157,682(+) |
G/T NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
VAR_064713 | - |
p.Pro345His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2663158 | CNV | deletion | 23128226 |
esv2759000 | CNV | gain+loss | 17122850 |
esv3588968 | CNV | loss | 21293372 |
esv3588969 | CNV | loss | 21293372 |
nsv1133942 | CNV | deletion | 24896259 |
nsv1133943 | CNV | deletion | 24896259 |
nsv832692 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chromosome 1q41-q42 deletion syndrome |
|
|