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Aliases for BTRC Gene

Aliases for BTRC Gene

  • Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase 2 3 5
  • F-Box And WD Repeats Protein Beta-TrCP 3 4
  • PIkappaBalpha-E3 Receptor Subunit 3 4
  • Epididymis Tissue Protein Li 2a 3 4
  • E3RSIkappaB 3 4
  • FBXW1A 3 4
  • FBW1A 3 4
  • F-Box/WD Repeat-Containing Protein 1A 3
  • Beta-Transducin Repeat Containing 2
  • F-Box And WD-Repeat Protein 1B 3
  • Beta-TrCP1 3
  • BETA-TRCP 3
  • BetaTrCP 3
  • BTrCP1 3
  • FBXW1 3
  • BTrCP 3
  • BTRCP 4
  • FWD1 3

External Ids for BTRC Gene

Previous GeneCards Identifiers for BTRC Gene

  • GC10P102007
  • GC10P102347
  • GC10P103245
  • GC10P102778
  • GC10P103103
  • GC10P096744

Summaries for BTRC Gene

Entrez Gene Summary for BTRC 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), 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. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]

GeneCards Summary for BTRC Gene

BTRC (Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with BTRC include Vaccinia and Isolated Split Hand-Split Foot Malformation. Among its related pathways are Activated TLR4 signalling and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include ligase activity and protein dimerization activity. An important paralog of this gene is FBXW11.

UniProtKB/Swiss-Prot for BTRC Gene

  • 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. Recognizes and binds to phosphorylated target proteins (PubMed:10066435, PubMed:10497169, PubMed:10644755, PubMed:10835356, PubMed:11238952, PubMed:11359933, PubMed:11994270, PubMed:12791267, PubMed:12902344, PubMed:14603323, PubMed:14681206, PubMed:14988407, PubMed:15448698, PubMed:15917222, PubMed:16371461, PubMed:25503564, PubMed:25704143, PubMed:9859996). SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling (PubMed:12077367, PubMed:12820959). SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1, ATF4, CDC25A, DLG1, FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2 (PubMed:10835356, PubMed:11238952, PubMed:14681206, PubMed:14603323). SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription (PubMed:10066435, PubMed:10497169, PubMed:10644755). Ubiquitination of NFKBIA occurs at Lys-21 and Lys-22 (PubMed:10066435). SCF(BTRC) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25704143, PubMed:25503564). SCF(BTRC) mediates the ubiquitination and subsequent degradation of nuclear NFE2L1 (By similarity). Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and PER2 (PubMed:15917222). May be involved in ubiquitination and subsequent proteasomal degradation through a DBB1-CUL4 E3 ubiquitin-protein ligase. Required for activation of NFKB-mediated transcription by IL1B, MAP3K14, MAP3K1, IKBKB and TNF. Required for proteolytic processing of GLI3 (PubMed:16371461).

Tocris Summary for BTRC Gene

  • Ubiquitin E3 ligases (EC 6.3.2.19) attach ubiquitin molecules onto lysine residues of proteins in order to target the protein for a specific cellular process, such as proteasomal degradation or an alteration in subcellular localization.

Gene Wiki entry for BTRC Gene

Additional gene information for BTRC Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTRC Gene

Genomics for BTRC Gene

GeneHancer (GH) Regulatory Elements for BTRC Gene

Promoters and enhancers for BTRC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J101353 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 663.9 +0.4 380 2.3 HDGF PKNOX1 ARID4B SIN3A IRF4 YY1 ZNF766 ZNF213 ZNF207 ZNF143 BTRC ENSG00000272572 RNU2-59P GC10M101365
GH10J101059 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.2 -290.2 -290191 8.7 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 SSRP1 KAZALD1 BTRC ENSG00000272572 KCNIP2-AS1 SFXN3 MRPL43 ENSG00000273162 GC10M101091
GH10J101379 Enhancer 1.1 UCNEbase ENCODE 19.8 +26.4 26350 1.6 PAX8 FEZF1 CTBP1 GATA3 SCRT2 FOS SMARCA5 SCRT1 SMARCE1 DPF2 GC10P101379 BTRC GC10P101410
GH10J101442 Enhancer 1.2 Ensembl ENCODE 13.3 +88.3 88304 0.3 PKNOX1 ARNT FEZF1 ZNF2 YY1 ZNF213 ZNF143 KLF13 DEK SP3 ENSG00000272572 SEC31B GBF1 NOLC1 BTRC PPRC1 LDB1 MRPL43 PDZD7 GC10P101447
GH10J101330 Enhancer 1 UCNEbase FANTOM5 ENCODE 13.7 -22.9 -22911 0.4 GATAD2A SOX13 CBFA2T3 BTRC RNU2-43P RNU2-59P POLL DPCD PDZD7 OGA GC10P101339 ENSG00000230967
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BTRC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTRC gene promoter:

Genomic Locations for BTRC Gene

Genomic Locations for BTRC Gene
chr10:101,354,033-101,557,321
(GRCh38/hg38)
Size:
203,289 bases
Orientation:
Plus strand
chr10:103,113,820-103,317,078
(GRCh37/hg19)

Genomic View for BTRC Gene

Genes around BTRC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTRC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTRC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTRC Gene

Proteins for BTRC Gene

  • Protein details for BTRC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y297-FBW1A_HUMAN
    Recommended name:
    F-box/WD repeat-containing protein 1A
    Protein Accession:
    Q9Y297
    Secondary Accessions:
    • B5MD49
    • Q5W141
    • Q5W142
    • Q9Y213

    Protein attributes for BTRC Gene

    Size:
    605 amino acids
    Molecular mass:
    68867 Da
    Quaternary structure:
    • Homodimer. Self-associates. Component of the SCF(BTRC) complex formed of CUL1, SKP1, RBX1 and a BTRC dimer. Direct interaction with SKP1 occurs via the F-box domain. Interacts with phosphorylated ubiquitination substrates SMAD3 and SMAD4. Interacts with phosphorylated ubiquitination substrates CTNNB1, NFKBIA, NFKBIB, NFKBIE, NFKB1/nuclear factor NF-kappa-B p105 subunit, ATF4, CDC25A, DLG1, FBXO5 and SNAI1; the interaction requires the phosphorylation of the 2 serine residues in the substrate destruction motif D-S-G-X(2,3,4)-S. Binds UBQLN1. Interacts with CDC34 and UBE2R2. Interacts with FBXW11. Interacts with CUL4A and DDB1. Part of a SCF(BTRC)-like complex lacking CUL1, which is associated with phosphorylated NKBIA and RELA; RELA interacts directly with NFKBIA. Interacts with the phosphorylated form of GLI3. Interacts with CLU. Interacts with PER1 (phosphorylated), PER2 (phosphorylated) and PER3. Interacts with phosphorylated ubiquitination substrate CEP68 (PubMed:25704143, PubMed:25503564). Interacts with ZC3H12A; this interaction occurs when ZC3H12A is phosphorylated in a IKBKB/IKKB-dependent manner (By similarity). Interacts with HSF1; this interaction occurs during mitosis and induces HSF1 ubiquitin-dependent degradation, a process inhibited by CDC20 (PubMed:18794143). Interacts with NFE2L1 (By similarity). Interacts with INAVA (PubMed:29420262).
    • (Microbial infection) Interacts with vaccinia virus A49; this interaction inhibits NF-kappa-B activation.
    • (Microbial infection) Interacts with HIV-1 Vpu.

    Three dimensional structures from OCA and Proteopedia for BTRC Gene

    Alternative splice isoforms for BTRC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTRC Gene

Post-translational modifications for BTRC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BTRC Gene

Domains & Families for BTRC Gene

Gene Families for BTRC Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y297

UniProtKB/Swiss-Prot:

FBW1A_HUMAN :
  • The N-terminal D domain mediates homodimerization.
Domain:
  • The N-terminal D domain mediates homodimerization.
genes like me logo Genes that share domains with BTRC: view

Function for BTRC Gene

Molecular function for BTRC Gene

UniProtKB/Swiss-Prot 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. Recognizes and binds to phosphorylated target proteins (PubMed:10066435, PubMed:10497169, PubMed:10644755, PubMed:10835356, PubMed:11238952, PubMed:11359933, PubMed:11994270, PubMed:12791267, PubMed:12902344, PubMed:14603323, PubMed:14681206, PubMed:14988407, PubMed:15448698, PubMed:15917222, PubMed:16371461, PubMed:25503564, PubMed:25704143, PubMed:9859996). SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling (PubMed:12077367, PubMed:12820959). SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1, ATF4, CDC25A, DLG1, FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2 (PubMed:10835356, PubMed:11238952, PubMed:14681206, PubMed:14603323). SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription (PubMed:10066435, PubMed:10497169, PubMed:10644755). Ubiquitination of NFKBIA occurs at Lys-21 and Lys-22 (PubMed:10066435). SCF(BTRC) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25704143, PubMed:25503564). SCF(BTRC) mediates the ubiquitination and subsequent degradation of nuclear NFE2L1 (By similarity). Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and PER2 (PubMed:15917222). May be involved in ubiquitination and subsequent proteasomal degradation through a DBB1-CUL4 E3 ubiquitin-protein ligase. Required for activation of NFKB-mediated transcription by IL1B, MAP3K14, MAP3K1, IKBKB and TNF. Required for proteolytic processing of GLI3 (PubMed:16371461).
GENATLAS Biochemistry:
beta transducin repeat containing protein,interacting with HIV Vpu to trigger the destruction of CD4 in the endoplasmic reticulum

Phenotypes From GWAS Catalog for BTRC Gene

Gene Ontology (GO) - Molecular Function for BTRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 9660940
GO:0008013 beta-catenin binding IDA 12820959
GO:0016874 ligase activity IEA --
GO:0045309 protein phosphorylated amino acid binding IEA --
genes like me logo Genes that share ontologies with BTRC: view
genes like me logo Genes that share phenotypes with BTRC: view

Human Phenotype Ontology for BTRC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BTRC Gene

MGI Knock Outs for BTRC:
  • Btrc Btrc<tm1Paga>
  • Btrc Btrc<tm1Kin>
  • Btrc Btrc<tm1b(KOMP)Wtsi>

Animal Model Products

Clone Products

  • Addgene plasmids for BTRC

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BTRC Gene

Localization for BTRC Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTRC Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTRC gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BTRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IDA 12820959
genes like me logo Genes that share ontologies with BTRC: view

Pathways & Interactions for BTRC Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 CDK-mediated phosphorylation and removal of Cdc6
3 HIV Life Cycle
.45
4 Cell cycle Role of SCF complex in cell cycle regulation
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with BTRC: view

UniProtKB/Swiss-Prot Q9Y297-FBW1A_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for BTRC Gene

Gene Ontology (GO) - Biological Process for BTRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006470 protein dephosphorylation ISS --
GO:0006511 ubiquitin-dependent protein catabolic process IDA,TAS 15448698
genes like me logo Genes that share ontologies with BTRC: view

Drugs & Compounds for BTRC Gene

(2) Drugs for BTRC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for BTRC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BTRC: view

Transcripts for BTRC Gene

Unigene Clusters for BTRC Gene

Beta-transducin repeat containing E3 ubiquitin protein ligase:
Representative Sequences:

Clone Products

  • Addgene plasmids for BTRC

Alternative Splicing Database (ASD) splice patterns (SP) for BTRC Gene

No ASD Table

Relevant External Links for BTRC Gene

GeneLoc Exon Structure for
BTRC
ECgene alternative splicing isoforms for
BTRC

Expression for BTRC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTRC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BTRC Gene

This gene is overexpressed in Peripheral blood mononuclear cells (55.1) and Pancreatic juice (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BTRC Gene



Protein tissue co-expression partners for BTRC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BTRC Gene:

BTRC

SOURCE GeneReport for Unigene cluster for BTRC Gene:

Hs.643802

mRNA Expression by UniProt/SwissProt for BTRC Gene:

Q9Y297-FBW1A_HUMAN
Tissue specificity: Expressed in epididymis (at protein level).

Evidence on tissue expression from TISSUES for BTRC Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BTRC Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • outer ear
  • skull
Abdomen:
  • kidney
Pelvis:
  • testicle
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with BTRC: view

No data available for mRNA differential expression in normal tissues for BTRC Gene

Orthologs for BTRC Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BTRC Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia BTRC 34
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BTRC 34 33
  • 97.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BTRC 34 33
  • 96.14 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTRC 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BTRC 34 33
  • 95.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btrc 33
  • 91.35 (n)
mouse
(Mus musculus)
Mammalia Btrc 16 34 33
  • 90.85 (n)
chicken
(Gallus gallus)
Aves BTRC 34 33
  • 84.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTRC 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btrc 33
  • 80.52 (n)
African clawed frog
(Xenopus laevis)
Amphibia btrc-A-prov 33
fruit fly
(Drosophila melanogaster)
Insecta slmb 34 35 33
  • 67.01 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001944 33
  • 65.11 (n)
worm
(Caenorhabditis elegans)
Secernentea lin-23 34
  • 48 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET30 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8954 34
  • 64 (a)
OneToMany
Cin.3627 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3627 33
Species where no ortholog for BTRC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for BTRC Gene

ENSEMBL:
Gene Tree for BTRC (if available)
TreeFam:
Gene Tree for BTRC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BTRC: view image

Paralogs for BTRC Gene

Paralogs for BTRC Gene

(7) SIMAP similar genes for BTRC Gene using alignment to 5 proteins:

  • FBW1A_HUMAN
  • B7Z3H4_HUMAN
  • Q5T1W7_HUMAN
  • Q86WI4_HUMAN
  • Q86WI5_HUMAN

Pseudogenes.org Pseudogenes for BTRC Gene

genes like me logo Genes that share paralogs with BTRC: view

Variants for BTRC Gene

Sequence variations from dbSNP and Humsavar for BTRC Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000015349 -- 101,502,477(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000032919 -- 101,510,230(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000040645 -- 101,450,633(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000059982 -- 101,353,764(+) A/T upstream_transcript_variant
rs1000068187 -- 101,536,316(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BTRC Gene

Variant ID Type Subtype PubMed ID
dgv278e212 CNV gain 25503493
dgv964n100 CNV gain 25217958
esv2658484 CNV deletion 23128226
esv2661408 CNV deletion 23128226
esv2750847 CNV gain 17911159
esv2760144 CNV gain 21179565
esv3546754 CNV deletion 23714750
esv3624375 CNV loss 21293372
esv3624376 CNV loss 21293372
esv3624377 CNV gain 21293372
esv3624378 CNV loss 21293372
esv3624379 CNV loss 21293372
esv3624380 CNV gain 21293372
esv3624382 CNV gain 21293372
esv3624383 CNV loss 21293372
nsv1053934 CNV gain 25217958
nsv1134048 CNV deletion 24896259
nsv552056 CNV gain 21841781
nsv831967 CNV gain 17160897

Variation tolerance for BTRC Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTRC Gene

Human Gene Mutation Database (HGMD)
BTRC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTRC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTRC Gene

Disorders for BTRC Gene

MalaCards: The human disease database

(7) MalaCards diseases for BTRC Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BTRC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BTRC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BTRC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BTRC Gene

Publications for BTRC Gene

  1. An insertion/deletion polymorphism in the 3' untranslated region of beta-transducin repeat-containing protein (betaTrCP) is associated with susceptibility for hepatocellular carcinoma in Chinese. (PMID: 19931512) Chen S … Gao Y (Biochemical and biophysical research communications 2010) 3 22 44 58
  2. SCFbeta-TRCP controls oncogenic transformation and neural differentiation through REST degradation. (PMID: 18354483) Westbrook TF … Elledge SJ (Nature 2008) 2 3 22 58
  3. Somatic mutations of the beta-TrCP gene in gastric cancer. (PMID: 17295679) Kim CJ … Park WS (APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2007) 3 22 44 58
  4. Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP. (PMID: 16705181) Tempé D … Concordet JP (Molecular and cellular biology 2006) 3 4 22 58
  5. SCFbeta-TRCP controls clock-dependent transcription via casein kinase 1-dependent degradation of the mammalian period-1 (Per1) protein. (PMID: 15917222) Shirogane T … Harper JW (The Journal of biological chemistry 2005) 3 4 22 58

Products for BTRC Gene

Sources for BTRC Gene

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