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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
  • BTrCP 3 4
  • FBW1A 3 4
  • 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
  • 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 Split Hand-Split Foot Malformation and Shigellosis. Among its related pathways are TCR signaling (REACTOME) and MyD88 cascade initiated on plasma membrane. GO annotations related to this gene include ligase activity and protein dimerization activity. An important paralog of this gene is TRAF7.

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. SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling. 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. Ubiquitination of NFKBIA occurs at Lys-21 and Lys-22. SCF(BTRC) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25704143, PubMed:25503564). SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1/nuclear factor NF-kappa-B p105 subunit, ATF4, CDC25A, DLG1, FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2. Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and PER2. 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.

Tocris Summary for BTRC Gene

Gene Wiki entry for BTRC Gene

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

Genomics for BTRC Gene

Regulatory Elements for BTRC Gene

Enhancers for BTRC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BTRC on UCSC Golden Path with GeneCards custom track

Promoters for BTRC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BTRC on UCSC Golden Path with GeneCards custom track

Genomic Location for BTRC Gene

Chromosome:
10
Start:
101,354,033 bp from pter
End:
101,557,321 bp from pter
Size:
203,289 bases
Orientation:
Plus strand

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 HIV-1 Vpu. 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; the interaction occurs when ZC3H12A is phosphorylated in a IKBKB/IKKB-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for BTRC Gene

    Alternative splice isoforms for BTRC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTRC Gene

Proteomics data for BTRC Gene at MOPED

Post-translational modifications for BTRC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BTRC Gene

No data available for DME Specific Peptides for BTRC Gene

Domains & 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.
  • Contains 7 WD repeats.
Domain:
  • The N-terminal D domain mediates homodimerization.
  • Contains 1 F-box domain.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with BTRC: view

Function for BTRC Gene

Molecular function for BTRC Gene

GENATLAS Biochemistry:
beta transducin repeat containing protein,interacting with HIV Vpu to trigger the destruction of CD4 in the endoplasmic reticulum
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. SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling. 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. Ubiquitination of NFKBIA occurs at Lys-21 and Lys-22. SCF(BTRC) mediates the ubiquitination of CEP68; this is required for centriole separation during mitosis (PubMed:25704143, PubMed:25503564). SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1/nuclear factor NF-kappa-B p105 subunit, ATF4, CDC25A, DLG1, FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2. Has an essential role in the control of the clock-dependent transcription via degradation of phosphorylated PER1 and PER2. 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.

Gene Ontology (GO) - Molecular Function for BTRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016874 ligase activity 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:

Animal Model Products

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
Jensen Localization Image for BTRC Gene COMPARTMENTS Subcellular localization image for BTRC gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BTRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with BTRC: view

Pathways & Interactions for BTRC Gene

SuperPathways for BTRC Gene

Superpath Contained pathways
1 MyD88 cascade initiated on plasma membrane
2 CDK-mediated phosphorylation and removal of Cdc6
3 Interleukin-3, 5 and GM-CSF signaling
4 Infectious disease
.48
5 Cell cycle Role of SCF complex in cell cycle regulation
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 IEA,TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
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:

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 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, PaxDb, MOPED, and MaxQB for BTRC Gene



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).
genes like me logo Genes that share expression patterns with BTRC: view

Protein tissue co-expression partners for BTRC Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia BTRC 35
  • 95.2 (n)
  • 99.47 (a)
BTRC 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BTRC 35
  • 96.14 (n)
  • 99.83 (a)
BTRC 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btrc 35
  • 90.85 (n)
  • 98.68 (a)
Btrc 16
Btrc 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BTRC 35
  • 97.26 (n)
  • 97.09 (a)
BTRC 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btrc 35
  • 91.35 (n)
  • 98.51 (a)
oppossum
(Monodelphis domestica)
Mammalia BTRC 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTRC 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTRC 35
  • 84.38 (n)
  • 96.17 (a)
BTRC 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTRC 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btrc 35
  • 80.52 (n)
  • 95.13 (a)
African clawed frog
(Xenopus laevis)
Amphibia btrc-A-prov 35
fruit fly
(Drosophila melanogaster)
Insecta slmb 37
  • 80 (a)
slmb 35
  • 67.01 (n)
  • 80.91 (a)
slmb 36
  • 78 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001944 35
  • 65.11 (n)
  • 76.83 (a)
worm
(Caenorhabditis elegans)
Secernentea lin-23 36
  • 48 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET30 36
  • 23 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3627 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8954 36
  • 64 (a)
OneToMany
Species with no ortholog for BTRC:
  • 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)

Paralogs for BTRC Gene

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

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 Sequence Context AA Info Type
rs2270439 - 101,550,817(+) TGAAC(A/C/G/T)CCCCC reference, missense
rs4151060 - 101,538,342(+) CTCCT(G/T)CAGGG reference, missense
rs2019 -- 101,557,061(-) TGGCC(A/G)TCCCT utr-variant-3-prime
rs14249 -- 101,556,922(-) GAGGT(A/T)ACACT utr-variant-3-prime
rs16405 -- 101,553,963(-) GAGAA(-/TCCACTGTT)GCCAC utr-variant-3-prime, cds-indel

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

Variant ID Type Subtype PubMed ID
esv2750847 CNV Gain 17911159
nsv831967 CNV Gain 17160897
nsv895967 CNV Gain 21882294
esv2658484 CNV Deletion 23128226
esv2661408 CNV Deletion 23128226

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)

Relevant External Links for BTRC Gene

Human Gene Mutation Database (HGMD)
BTRC

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

Disorders for BTRC Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
split hand-split foot malformation
  • split hand foot malformation
shigellosis
  • bacillary dysentery
aarskog-scott syndrome
  • aarskog syndrome
hepatitis e
split foot
- elite association - COSMIC cancer census association via MalaCards
Search BTRC in MalaCards View complete list of genes associated with diseases

Relevant External Links for BTRC

Genetic Association Database (GAD)
BTRC
Human Genome Epidemiology (HuGE) Navigator
BTRC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTRC
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. A novel human WD protein, h-beta TrCp, that interacts with HIV-1 Vpu connects CD4 to the ER degradation pathway through an F-box motif. (PMID: 9660940) Margottin F. … Benarous R. (Mol. Cell 1998) 2 3 4 67
  2. SCFbeta-TRCP controls oncogenic transformation and neural differentiation through REST degradation. (PMID: 18354483) Westbrook T.F. … Elledge S.J. (Nature 2008) 2 3 23
  3. 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. (Biochem. Biophys. Res. Commun. 2010) 3 23
  4. The ubiquitin-specific protease USP47 is a novel beta-TRCP interactor regulating cell survival. (PMID: 19966869) Peschiaroli A. … Melino G. (Oncogene 2010) 3 23
  5. betaTrCP- and Rsk1/2-mediated degradation of BimEL inhibits apoptosis. (PMID: 19150432) Dehan E. … Pagano M. (Mol. Cell 2009) 3 23

Products for BTRC Gene

  • Addgene plasmids for BTRC

Sources for BTRC Gene

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