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Members of the F-box protein family, such as FBXL14, 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]
FBXL14 (F-Box And Leucine Rich Repeat Protein 14) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is FBXL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IDA | 19955572 |
GO:0005515 | protein binding | IPI | 19955572 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 19955572 |
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:0000209 | protein polyubiquitination | TAS | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IBA,IDA | 19955572 |
GO:0031146 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | IBA | 21873635 |
GO:0043687 | post-translational protein modification | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | - | - | |||||||||||
SP3: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | FBXL14 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | FBXL14 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FBXL14 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FBXL14 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fbxl14 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fbxl14 30 |
|
||
Chicken (Gallus gallus) |
Aves | FBXL14 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | FBXL14 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbxl14 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fbxl14b 30 31 |
|
OneToOne | |
ppab 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | ppa 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010289 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
778076 | Benign: not provided | 1,593,304(-) | G/A | SYNONYMOUS_VARIANT | |
rs35571553 | - | p.Leu220Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2269n54 | CNV | loss | 21841781 |
dgv2270n54 | CNV | loss | 21841781 |
dgv2271n54 | CNV | gain | 21841781 |
dgv2272n54 | CNV | gain+loss | 21841781 |
dgv257n67 | CNV | gain | 20364138 |
esv1091719 | CNV | insertion | 17803354 |
esv1766777 | CNV | insertion | 17803354 |
esv2658521 | CNV | deletion | 23128226 |
esv2762959 | CNV | gain | 21179565 |
esv27885 | CNV | loss | 19812545 |
esv3628286 | CNV | loss | 21293372 |
nsv1070500 | CNV | deletion | 25765185 |
nsv470258 | CNV | gain | 18288195 |
nsv556979 | CNV | loss | 21841781 |
nsv556981 | CNV | gain+loss | 21841781 |
nsv556986 | CNV | loss | 21841781 |
nsv556990 | CNV | gain+loss | 21841781 |
nsv556992 | CNV | gain | 21841781 |
nsv556993 | CNV | loss | 21841781 |
No disorders were found for FBXL14 Gene.