| Name | beta-transducin repeat containing |
| Symbol | BTRC |
| Aliases | FWD1; BTRCP; FBW1A; FBXW1A; BETATRCP; BETA-TRCP; Beta transducin repeats containing protein |
| Gene Product | - beta-transducin repeat containing protein, isoform 1
- beta-transducin repeat containing protein, isoform 2
|
| Category | - Mutation in Prostate cancer
|
| UniGene | Hs.334624 |
| OMIM | 603482 |
| Locus | 8945 |
| Summary | 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 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 Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. This protein is homologous to Xenopus bTrCP1, yeast Met30, Neurospora Scon2 and Drosophila Slimb proteins. It interacts with HIV-1 Vpu and connects CD4 to the proteolytic machinery. It also associates specifically with phosphorylated IkappaBalpha and beta-catenin destruction motifs, probably functioning in multiple transcriptional programs by activating the NF-kappaB pathway and inhibiting the beta-catenin pathway. |
| Gene Ontology | |
| Expression | | EST (40 ESTs, 28 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| adrenal gland (1/15) |  | 2/17521 |
| brain (2/204) | | 2/362011 |
| colon (1/853) | | 1/165626 |
| embryo (1/19) | | 1/37976 |
| eye (1/33) | | 3/93836 |
| foreskin (1/4) | | 1/20040 |
| head and neck (1/990) | | 1/79796 |
| heart (1/22) | | 1/55494 |
| kidney (1/86) | | 1/132968 |
| muscle (2/21) | | 4/71297 |
| nervous (1/475) | | 1/43438 |
| stomach (1/312) | | 1/129930 |
| testis (3/171) | | 6/117531 |
| uncharacterized tissue (11/1773) | | 15/713325 |
|
| SAGE (1265741 tags, 23 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (6/19) | | 12/611878 |
| colon (1/8) | | 1/52094 |
| eye (2/6) | | 2/158978 |
| foreskin (1/2) | | 1/9759 |
| mammary gland (1/19) | | 1/60162 |
| ovary (2/10) | | 4/82227 |
| pancreas (1/8) | | 1/24924 |
| prostate (1/13) |  | 1/65351 |
| stomach (1/3) | | 1/70433 |
| uncharacterized tissue (2/22) | | 2/71931 |
| vascular (1/3) | | 1/58004 |
|
|
| SNP | rs2270439 (C/A:coding-nonsyn); rs3051299 (-/TTTTT:intron); rs720356 (A/G:intron); rs3127238 (G/A:intron); rs3095797 (G/A:intron); rs1045316 (G/A:locus-region); rs959754 (C/T:intron); |
| Evidence | Mutation in Prostate cancer
|
