BTRC (beta-transducin repeat containing E3 ubiquitin protein ligase)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8945 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Beta-transducin repeat containing E3 ubiquitin protein ligase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
BTRC |
SynonymsGene synonyms aliases
|
BETA-TRCP, FBW1A, FBXW1, FBXW1A, FWD1, bTrCP, bTrCP1, betaTrCP |
ChromosomeChromosome number
|
10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q24.32 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
SMAD4 |
Repression |
14988407 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000086 |
Process |
G2/M transition of mitotic cell cycle |
TAS |
|
GO:0000209 |
Process |
Protein polyubiquitination |
IDA |
12820959 |
GO:0000209 |
Process |
Protein polyubiquitination |
IMP |
12820959 |
GO:0000209 |
Process |
Protein polyubiquitination |
TAS |
|
GO:0002223 |
Process |
Stimulatory C-type lectin receptor signaling pathway |
TAS |
|
GO:0004842 |
Function |
Ubiquitin-protein transferase activity |
IDA |
15448698 |
GO:0005515 |
Function |
Protein binding |
IPI |
9859996, 11238952, 12609982, 12791267, 12820959, 12902344, 15070733, 15448698, 15917222, 16189514, 16371461, 16376880, 16865698, 16885022, 17318178, 17510365, 18354482, 18354483, 18521620, 18794143, 18805092, 19159283, 19196987, 19411070, 19615732, 19945379, 19966869, 20389281, 2053 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006470 |
Process |
Protein dephosphorylation |
ISS |
|
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
IDA |
15448698 |
GO:0007165 |
Process |
Signal transduction |
TAS |
9990853 |
GO:0008013 |
Function |
Beta-catenin binding |
IDA |
12820959 |
GO:0016032 |
Process |
Viral process |
IEA |
|
GO:0016055 |
Process |
Wnt signaling pathway |
TAS |
|
GO:0016567 |
Process |
Protein ubiquitination |
IBA |
21873635 |
GO:0016567 |
Process |
Protein ubiquitination |
IDA |
16885022, 18354482 |
GO:0016567 |
Process |
Protein ubiquitination |
IMP |
21258371 |
GO:0016874 |
Function |
Ligase activity |
IEA |
|
GO:0019005 |
Component |
SCF ubiquitin ligase complex |
IBA |
21873635 |
GO:0019005 |
Component |
SCF ubiquitin ligase complex |
IDA |
12820959, 19966869 |
GO:0031146 |
Process |
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process |
ISS |
21911472 |
GO:0031648 |
Process |
Protein destabilization |
IMP |
16885022 |
GO:0033598 |
Process |
Mammary gland epithelial cell proliferation |
IEA |
|
GO:0038061 |
Process |
NIK/NF-kappaB signaling |
TAS |
|
GO:0038095 |
Process |
Fc-epsilon receptor signaling pathway |
TAS |
|
GO:0042752 |
Process |
Regulation of circadian rhythm |
IDA |
15917222 |
GO:0042753 |
Process |
Positive regulation of circadian rhythm |
ISS |
|
GO:0043122 |
Process |
Regulation of I-kappaB kinase/NF-kappaB signaling |
IEA |
|
GO:0043161 |
Process |
Proteasome-mediated ubiquitin-dependent protein catabolic process |
IDA |
15917222 |
GO:0043433 |
Process |
Negative regulation of DNA-binding transcription factor activity |
TAS |
11001584 |
GO:0043687 |
Process |
Post-translational protein modification |
TAS |
|
GO:0045309 |
Function |
Protein phosphorylated amino acid binding |
IEA |
|
GO:0045862 |
Process |
Positive regulation of proteolysis |
IMP |
16885022 |
GO:0045879 |
Process |
Negative regulation of smoothened signaling pathway |
TAS |
11001584 |
GO:0045892 |
Process |
Negative regulation of transcription, DNA-templated |
IMP |
19966869 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
ISS |
|
GO:0046983 |
Function |
Protein dimerization activity |
IEA |
|
GO:0048511 |
Process |
Rhythmic process |
IEA |
|
GO:0050852 |
Process |
T cell receptor signaling pathway |
TAS |
|
GO:0051403 |
Process |
Stress-activated MAPK cascade |
TAS |
|
GO:0060444 |
Process |
Branching involved in mammary gland duct morphogenesis |
IEA |
|
GO:0060828 |
Process |
Regulation of canonical Wnt signaling pathway |
IC |
12820959 |
GO:0061136 |
Process |
Regulation of proteasomal protein catabolic process |
IEA |
|
GO:0061630 |
Function |
Ubiquitin protein ligase activity |
IEA |
|
GO:0070498 |
Process |
Interleukin-1-mediated signaling pathway |
TAS |
|
GO:0070936 |
Process |
Protein K48-linked ubiquitination |
IEA |
|
GO:0071407 |
Process |
Cellular response to organic cyclic compound |
IEA |
|
GO:1901990 |
Process |
Regulation of mitotic cell cycle phase transition |
TAS |
|
GO:1904668 |
Process |
Positive regulation of ubiquitin protein ligase activity |
IDA |
12820959 |
GO:1990756 |
Function |
Ubiquitin ligase-substrate adaptor activity |
IDA |
12820959 |
GO:1990757 |
Function |
Ubiquitin ligase activator activity |
IDA |
12820959 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
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 |
|
Sequence |
|
Sequence length |
605 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Aniridia |
Aniridia |
rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591 |
|
Ectrodactyly |
Ectrodactyly |
rs1850314485 |
16691619, 24115638 |
Hearing loss |
Sensorineural Hearing Loss (disorder) |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Isolated split hand-split foot malformation |
Isolated split hand-split foot malformation |
|
|
Oligodactyly |
Oligodactyly |
|
|
Syndactyly of fingers |
Syndactyly of fingers |
|
|
|
|
|