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This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]
FBXO8 (F-Box Protein 8) is a Protein Coding gene. Diseases associated with FBXO8 include Arthrogryposis, Distal, Type 10 and Cardiomyopathy, Familial Hypertrophic, 17. Among its related pathways are Arf6 signaling events. Gene Ontology (GO) annotations related to this gene include ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is IQSEC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005086 | ARF guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000151 | ubiquitin ligase complex | NAS | 10945468 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Arf6 signaling events |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006511 | ubiquitin-dependent protein catabolic process | NAS | 10945468 |
GO:0032012 | regulation of ARF protein signal transduction | IEA | -- |
GO:0050790 | regulation of catalytic activity | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||
SP5: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FBXO8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FBXO8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FBXO8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fbxo8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fbxo8 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FBXO8 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FBXO8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FBXO8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbxo8 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.18650 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fbxo8 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | M02B7.5 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8763 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.713 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs115274413 | Benign: not provided | 174,237,602(-) |
G/A NM_012180.3(FBXO8):c.773-3C>T |
INTRON | |
rs61748174 | Benign: not provided | 174,259,787(-) |
T/C NM_012180.3(FBXO8):c.368A>G (p.Asn123Ser) |
MISSENSE | |
rs77119323 | Benign: not provided | 174,237,490(-) |
G/A NM_012180.3(FBXO8):c.882C>T (p.Arg294=) |
SYNONYMOUS | |
VAR_036157 | A breast cancer sample |
p.Leu269Ile |
|||
rs17854000 | - |
p.Tyr156His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2123340 | CNV | deletion | 18987734 |
esv2728766 | CNV | deletion | 23290073 |
nsv479066 | CNV | novel sequence insertion | 20440878 |
nsv480020 | CNV | novel sequence insertion | 20440878 |
nsv596234 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
arthrogryposis, distal, type 10 |
|
|
cardiomyopathy, familial hypertrophic, 17 |
|
|
acinar cell cystadenocarcinoma |
|
|
arthrogryposis, distal, type 7 |
|
|
distal arthrogryposis |
|
|