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Members of the F-box protein family, such as FBXL12, 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]
FBXL12 (F-Box And Leucine Rich Repeat Protein 12) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 18660753 |
GO:0061630 | ubiquitin protein ligase activity | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000151 | ubiquitin ligase complex | IEA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0019005 | SCF ubiquitin ligase complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000086 | G2/M transition of mitotic cell cycle | IBA | 21873635 |
GO:0000209 | protein polyubiquitination | TAS | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0031146 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | · | 6f | · | 6g | · | 6h | · | 6i | · | 6j |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP11: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FBXL12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FBXL12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FBXL12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fbxl12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fbxl12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FBXL12 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC100859027 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | FBXL12 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbxl12 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8417 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
VAR_064712 | - | p.Leu63His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2669314 | CNV | deletion | 23128226 |
esv3643642 | CNV | loss | 21293372 |
nsv520683 | CNV | loss | 19592680 |
No disorders were found for FBXL12 Gene.