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Aliases for BTBD1 Gene

Aliases for BTBD1 Gene

  • BTB Domain Containing 1 2 3 5
  • Hepatitis C Virus NS5A-Transactivated Protein 8 3 4
  • HCV NS5A-Transactivated Protein 8 3 4
  • BTB (POZ) Domain Containing 1 2 3
  • C15orf1 3 4
  • NS5ATP8 3 4
  • BTB/POZ Domain-Containing Protein 1 3

External Ids for BTBD1 Gene

Previous GeneCards Identifiers for BTBD1 Gene

  • GC15M079611
  • GC15M076717
  • GC15M081263
  • GC15M081404
  • GC15M081476
  • GC15M083685
  • GC15M059948
  • GC15M083018
  • GC15M083020
  • GC15M083021

Summaries for BTBD1 Gene

Entrez Gene Summary for BTBD1 Gene

  • The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for BTBD1 Gene

BTBD1 (BTB Domain Containing 1) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is BTBD2.

UniProtKB/Swiss-Prot for BTBD1 Gene

  • Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Gene Wiki entry for BTBD1 Gene

Additional gene information for BTBD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD1 Gene

Genomics for BTBD1 Gene

GeneHancer (GH) Regulatory Elements for BTBD1 Gene

Promoters and enhancers for BTBD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J083060 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.9 +2.7 2712 7.5 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 BTBD1 C15orf40 SNHG21 TM6SF1 RAMMET AP3B2 GOLGA6L9 WHAMM MIR4515 GC15P083184
GH15J083069 Enhancer 0.9 Ensembl ENCODE 665.1 -1.9 -1905 0.3 NFATC3 ASH1L CHAMP1 CC2D1A ZNF316 NFYB VEZF1 FOS MAFK MAFG BTBD1 TM6SF1 RAMMET C15orf40 GC15P083169 ENSG00000260351 LOC105370928
GH15J083010 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.1 +56.0 55974 2.8 HDGF CLOCK ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B C15orf40 HOMER2 ENSG00000260608 GC15M083024 PIR34182 RAMMET WHAMM EFL1 ENSG00000260579 BTBD1
GH15J083277 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.9 -216.3 -216335 12.4 PKNOX1 NFIB NEUROD1 SIN3A BMI1 ZNF335 FOS RCOR1 EGR2 CEBPB BNC1 LOC105370932 BTBD1 HDGFL3 GOLGA6L9 AP3B2 RAMMET HOMER2 UBE2Q2P2 ENSG00000259986
GH15J083091 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -25.3 -25303 1.6 PKNOX1 SMAD1 ATF1 ARNT TCF12 POLR2B ZNF766 GATA2 ATF7 RUNX3 GC15P083169 GC15P083174 BTBD1 HOMER2 TM6SF1 LOC105370928
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTBD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTBD1 gene promoter:
  • Lmo2
  • c-Ets-1
  • FOXJ2 (long isoform)
  • FOXJ2
  • GATA-2
  • YY1
  • RSRFC4
  • GATA-1

Genomic Locations for BTBD1 Gene

Genomic Locations for BTBD1 Gene
51,013 bases
Minus strand
50,933 bases
Minus strand

Genomic View for BTBD1 Gene

Genes around BTBD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD1 Gene

Proteins for BTBD1 Gene

  • Protein details for BTBD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    BTB/POZ domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • A6NMI8
    • Q9BX71
    • Q9NWN4

    Protein attributes for BTBD1 Gene

    482 amino acids
    Molecular mass:
    52771 Da
    Quaternary structure:
    • Interacts with topoisomerase 1 and with TRIM5 isoform Delta. Interacts with CUL3.

    Alternative splice isoforms for BTBD1 Gene


neXtProt entry for BTBD1 Gene

Post-translational modifications for BTBD1 Gene

  • Ubiquitination at Lys388, posLast=270270, posLast=264264, and Lys52
  • Modification sites at PhosphoSitePlus

Other Protein References for BTBD1 Gene

Antibody Products

  • Boster Bio Antibodies for BTBD1

No data available for DME Specific Peptides for BTBD1 Gene

Domains & Families for BTBD1 Gene

Gene Families for BTBD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BTBD1 Gene

Suggested Antigen Peptide Sequences for BTBD1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BTBD1: view

No data available for UniProtKB/Swiss-Prot for BTBD1 Gene

Function for BTBD1 Gene

Molecular function for BTBD1 Gene

UniProtKB/Swiss-Prot Function:
Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Phenotypes From GWAS Catalog for BTBD1 Gene

Gene Ontology (GO) - Molecular Function for BTBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12878161
GO:0031625 ubiquitin protein ligase binding IBA --
genes like me logo Genes that share ontologies with BTBD1: view
genes like me logo Genes that share phenotypes with BTBD1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTBD1 Gene

Localization for BTBD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD1 Gene

Cytoplasm. Note=Localizes to punctate or elongated cytoplasmic bodies. {ECO:0000269 PubMed:12878161}.

Subcellular locations from

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 BTBD1 gene
Compartment Confidence
cytosol 4

Gene Ontology (GO) - Cellular Components for BTBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IDA 12878161
GO:0005737 cytoplasm IEA,IBA --
GO:0005829 cytosol TAS,IBA --
GO:0019005 SCF ubiquitin ligase complex IBA --
GO:0032991 protein-containing complex IDA --
genes like me logo Genes that share ontologies with BTBD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTBD1 Gene

Pathways & Interactions for BTBD1 Gene

genes like me logo Genes that share pathways with BTBD1: view

UniProtKB/Swiss-Prot Q9H0C5-BTBD1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for BTBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0022008 neurogenesis IBA --
GO:0030162 regulation of proteolysis IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
GO:0043393 regulation of protein binding NAS 11179693
genes like me logo Genes that share ontologies with BTBD1: view

No data available for SIGNOR curated interactions for BTBD1 Gene

Drugs & Compounds for BTBD1 Gene

No Compound Related Data Available

Transcripts for BTBD1 Gene

mRNA/cDNA for BTBD1 Gene

Unigene Clusters for BTBD1 Gene

BTB (POZ) domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: - - -
SP2: -

Relevant External Links for BTBD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BTBD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTBD1 Gene

mRNA differential expression in normal tissues according to GTEx for BTBD1 Gene

This gene is overexpressed in Muscle - Skeletal (x7.2).

Protein differential expression in normal tissues from HIPED for BTBD1 Gene

This gene is overexpressed in Pancreatic juice (32.9), Frontal cortex (14.0), Prostate (13.7), and Brain (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BTBD1 Gene

Protein tissue co-expression partners for BTBD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BTBD1 Gene:


SOURCE GeneReport for Unigene cluster for BTBD1 Gene:


mRNA Expression by UniProt/SwissProt for BTBD1 Gene:

Tissue specificity: Ubiquitous; higher levels in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for BTBD1 Gene

  • Nervous system(4.7)
  • Muscle(2.6)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with BTBD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD1 Gene

Orthologs for BTBD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BTBD1 34 33
  • 99.59 (n)
(Ornithorhynchus anatinus)
Mammalia BTBD1 34
  • 95 (a)
(Monodelphis domestica)
Mammalia BTBD1 34
  • 92 (a)
(Mus musculus)
Mammalia Btbd1 16 34 33
  • 91.01 (n)
(Canis familiaris)
Mammalia BTBD1 34 33
  • 90.6 (n)
(Rattus norvegicus)
Mammalia Btbd1 33
  • 89.97 (n)
(Bos Taurus)
Mammalia BTBD1 34 33
  • 89.95 (n)
(Gallus gallus)
Aves BTBD1 34 33
  • 84.93 (n)
(Anolis carolinensis)
Reptilia BTBD1 34
  • 89 (a)
(Danio rerio)
Actinopterygii btbd2 34
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17068 34
  • 19 (a)
(Caenorhabditis elegans)
Secernentea F38H4.7 35
  • 55 (a)
tag-30 34
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
Cin.6825 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6825 33
Species where no ortholog for BTBD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for BTBD1 Gene

Gene Tree for BTBD1 (if available)
Gene Tree for BTBD1 (if available)
Evolutionary constrained regions (ECRs) for BTBD1: view image

Paralogs for BTBD1 Gene

Paralogs for BTBD1 Gene

(4) SIMAP similar genes for BTBD1 Gene using alignment to 3 proteins:

  • H0YL89_HUMAN
genes like me logo Genes that share paralogs with BTBD1: view

Variants for BTBD1 Gene

Sequence variations from dbSNP and Humsavar for BTBD1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000014226 -- 83,063,034(-) A/G intron_variant
rs1000082086 -- 83,027,666(-) C/G/T intron_variant
rs1000177491 -- 83,016,348(-) A/G downstream_transcript_variant
rs1000211390 -- 83,033,942(-) G/A intron_variant
rs1000270717 -- 83,046,234(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BTBD1 Gene

Variant ID Type Subtype PubMed ID
esv3637065 CNV gain 21293372
esv3637067 CNV loss 21293372
nsv1120052 OTHER inversion 24896259
nsv1122986 CNV deletion 24896259
nsv475626 CNV novel sequence insertion 20440878
nsv7269 OTHER inversion 18451855
nsv977749 CNV duplication 23825009

Variation tolerance for BTBD1 Gene

Residual Variation Intolerance Score: 21.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTBD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD1 Gene

Disorders for BTBD1 Gene

Additional Disease Information for BTBD1

No disorders were found for BTBD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTBD1 Gene

Publications for BTBD1 Gene

  1. BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta. (PMID: 12878161) Xu L … D'Arpa P (Experimental cell research 2003) 3 4 22 58
  2. Characterization of BTBD1 and BTBD2, two similar BTB-domain-containing Kelch-like proteins that interact with Topoisomerase I. (PMID: 11818025) Xu L … D'Arpa P (BMC genomics 2002) 3 4 22 58
  3. Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. (PMID: 11179693) Carim-Todd L … Escarceller M (Gene 2001) 3 4 22 58
  4. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. (PMID: 21326860) Tsai FJ … Wu JY (PloS one 2011) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for BTBD1 Gene

Sources for BTBD1 Gene

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