Gene Gene information from NCBI Gene database.
Entrez ID 8945
Gene name Beta-transducin repeat containing E3 ubiquitin protein ligase
Gene symbol BTRC
Synonyms (NCBI Gene)
BETA-TRCPFBW1AFBXW1FBXW1AFWD1bTrCPbTrCP1betaTrCP
Chromosome 10
Chromosome location 10q24.32
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), w
miRNA miRNA information provided by mirtarbase database.
696
miRTarBase ID miRNA Experiments Reference
MIRT004673 hsa-miR-183-5p 5'RACEqRT-PCRWestern blot 19647520
MIRT005510 hsa-miR-10a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 20624982
MIRT016603 hsa-miR-193b-3p Microarray 20304954
MIRT051452 hsa-let-7e-5p CLASH 23622248
MIRT051351 hsa-miR-15a-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SMAD4 Repression 14988407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IDA 28890335
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 11001584
GO:0000209 Process Protein polyubiquitination IDA 12820959
GO:0000209 Process Protein polyubiquitination IEA
GO:0000209 Process Protein polyubiquitination IMP 12820959
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603482 1144 ENSG00000166167
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y297
Protein name F-box/WD repeat-containing protein 1A (E3RSIkappaB) (Epididymis tissue protein Li 2a) (F-box and WD repeats protein beta-TrCP) (pIkappaBalpha-E3 receptor subunit)
Protein function Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:10066435, PubMed:10497169, PubMed:10644755
PDB 1P22 , 2P64 , 6M90 , 6M91 , 6M92 , 6M93 , 6M94 , 6TTU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12125 Beta-TrCP_D 139 177 D domain of beta-TrCP Domain
PF12937 F-box-like 183 231 F-box-like Domain
PF00400 WD40 288 329 WD domain, G-beta repeat Repeat
PF00400 WD40 333 369 WD domain, G-beta repeat Repeat
PF00400 WD40 416 452 WD domain, G-beta repeat Repeat
PF00400 WD40 456 492 WD domain, G-beta repeat Repeat
PF00400 WD40 496 532 WD domain, G-beta repeat Repeat
PF00400 WD40 546 581 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409}.
Sequence
MDPAEAVLQEKALKFMCSMPRSLWLGCSSLADSMPSLRCLYNPGTGALTAFQNSSEREDC
NNGEPPRKIIPEKNSLRQTYNSCARLCLNQETVCLASTAMKTENCVAKTKLANGTSSMIV
PKQRKLSASYEKEKELCVKYFEQWSESDQVEFVEHLISQMCHYQHGHINSYLKPMLQRDF
ITALPARGLDHIAENILSYLDAKSLCAAELVCKEWYRVTSDGMLWKKLIERMVRTDSLWR
GLAERRGWGQYLFKNKPPDGNAPPNSFYRALYPKIIQDIETIESNWRCGRHSLQRIHCRS
ETSKGVYCLQYDDQKIVSGLRDNTIKIWD
KNTLECKRILTGHTGSVLCLQYDERVIITGS
SDSTVRVWD
VNTGEMLNTLIHHCEAVLHLRFNNGMMVTCSKDRSIAVWDMASPTDITLRR
VLVGHRAAVNVVDFDDKYIVSASGDRTIKVWN
TSTCEFVRTLNGHKRGIACLQYRDRLVV
SGSSDNTIRLWD
IECGACLRVLEGHEELVRCIRFDNKRIVSGAYDGKIKVWDLVAALDPR
APAGTLCLRTLVEHSGRVFRLQFDEFQIVSSSHDDTILIWDFLNDPAAQAEPPRSPSRTY
TYISR
Sequence length 605
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oocyte meiosis
Ubiquitin mediated proteolysis
Cellular senescence
Wnt signaling pathway
Hedgehog signaling pathway
Hippo signaling pathway
Circadian rhythm
Shigellosis
Human immunodeficiency virus 1 infection
  Activation of NF-kappaB in B cells
Prolactin receptor signaling
SCF-beta-TrCP mediated degradation of Emi1
Vpu mediated degradation of CD4
Degradation of beta-catenin by the destruction complex
Downstream TCR signaling
Regulation of PLK1 Activity at G2/M Transition
FCERI mediated NF-kB activation
Deactivation of the beta-catenin transactivating complex
Dectin-1 mediated noncanonical NF-kB signaling
CLEC7A (Dectin-1) signaling
Degradation of GLI1 by the proteasome
GLI3 is processed to GLI3R by the proteasome
NIK-->noncanonical NF-kB signaling
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Neddylation
Interleukin-1 signaling
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BTRC-related disorder Benign; Likely benign; Uncertain significance rs6584429, rs2270439, rs17767748, rs4151060, rs1220353110, rs775210690, rs4151059, rs141008374 RCV003980746
RCV003926287
RCV003971137
RCV003913512
RCV003898614
RCV003416972
RCV003917320
RCV003940662
RCV003955804
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Inhibit 23416973
Breast Neoplasms Associate 28855742, 32462972, 36194598
Carcinogenesis Associate 32462972, 36822623
Carcinoma Hepatocellular Associate 25311538, 36169173, 36822623
Carcinoma Merkel Cell Associate 30689667, 35336880
Carcinoma Ovarian Epithelial Associate 23546975
Cell Transformation Neoplastic Associate 23416973
Disease Associate 34469739
Down Syndrome Associate 27807027
Drug Related Side Effects and Adverse Reactions Associate 23555649