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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 Innate Immune System and Class I MHC mediated antigen processing and presentation. 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

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

Genomics for BTBD1 Gene

Regulatory Elements for BTBD1 Gene

Enhancers for BTBD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G083060 2 FANTOM5 Ensembl ENCODE dbSUPER 14.9 +2.7 2712 7.5 HDGF HNRNPUL1 PKNOX1 FOXA2 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 C15orf40 BTBD1 TM6SF1 SNHG21 FAM103A1 AP3B2 GOLGA6L9 WHAMM MIR4515 GC15P083164
GH15G083111 1.2 Ensembl ENCODE dbSUPER 19.9 -45.4 -45388 1.8 CTCF ZNF687 ZNF146 NFIB BHLHE40 NR2F1 ZNF592 NR2F2 NFIC GATA2 BTBD1 C15orf40 HOMER2 AP3B2 ENSG00000260579 TM6SF1
GH15G083091 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -25.3 -25304 1.6 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 FOS NCOA1 REST ZNF592 BTBD1 HOMER2 TM6SF1 GC15P083143
GH15G083200 0.9 FANTOM5 ENCODE 21.5 -133.0 -133027 1.5 ZNF664 MTA2 TARDBP IKZF1 NBN RELB ZBTB33 DPF2 IKZF2 RELA BTBD1 C15orf40 TM6SF1 BNC1 AP3B2 ENSG00000260351 SH3GL3 HDGFL3 ENSG00000259986
GH15G083010 1.1 ENCODE 15.1 +56.0 55975 2.8 HDGF CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B FAM103A1 SNHG21 C15orf40 CPEB1 CPEB1-AS1 AP3B2 WHAMM ENSG00000260579 HOMER2 BTBD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTBD1 on UCSC Golden Path with GeneCards custom track

Promoters for BTBD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080276 1334 3001 HDGF HNRNPUL1 PKNOX1 FOXA2 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1

Genomic Location for BTBD1 Gene

Chromosome:
15
Start:
83,016,422 bp from pter
End:
83,067,434 bp from pter
Size:
51,013 bases
Orientation:
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:
    Q9H0C5-BTBD1_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 1
    Protein Accession:
    Q9H0C5
    Secondary Accessions:
    • A6NMI8
    • Q9BX71
    • Q9NWN4

    Protein attributes for BTBD1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD1 Gene

Post-translational modifications for BTBD1 Gene

  • Ubiquitination at Lys52, posLast=264264, posLast=270270, and posLast=388388
  • Modification sites at PhosphoSitePlus

Other Protein References for BTBD1 Gene

No data available for DME Specific Peptides for BTBD1 Gene

Domains & Families for BTBD1 Gene

Gene Families for BTBD1 Gene

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.

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

Phenotypes for BTBD1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA 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, P-body. Note=Cytoplasmic bodies.

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 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 --
GO:0005829 cytosol IBA,TAS --
GO:0019005 SCF ubiquitin ligase complex IBA --
GO:0043234 protein complex IDA --
genes like me logo Genes that share ontologies with BTBD1: view

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:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
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

Unigene Clusters for BTBD1 Gene

BTB (POZ) domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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: -
SP3:
SP4:

Relevant External Links for BTBD1 Gene

GeneLoc Exon Structure for
BTBD1
ECgene alternative splicing isoforms for
BTBD1

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, PaxDb, MaxQB, and MOPED for BTBD1 Gene



Protein tissue co-expression partners for BTBD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BTBD1 Gene:

BTBD1

SOURCE GeneReport for Unigene cluster for BTBD1 Gene:

Hs.459149

mRNA Expression by UniProt/SwissProt for BTBD1 Gene:

Q9H0C5-BTBD1_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia BTBD1 34 35
  • 99.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD1 35
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BTBD1 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btbd1 34 16 35
  • 91.01 (n)
dog
(Canis familiaris)
Mammalia BTBD1 34 35
  • 90.6 (n)
rat
(Rattus norvegicus)
Mammalia Btbd1 34
  • 89.97 (n)
cow
(Bos Taurus)
Mammalia BTBD1 34 35
  • 89.95 (n)
chicken
(Gallus gallus)
Aves BTBD1 34 35
  • 84.93 (n)
lizard
(Anolis carolinensis)
Reptilia BTBD1 35
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii btbd2 35
  • 61 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17068 35
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F38H4.7 36
  • 55 (a)
tag-30 35
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6825 34
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

ENSEMBL:
Gene Tree for BTBD1 (if available)
TreeFam:
Gene Tree for BTBD1 (if available)

Paralogs for BTBD1 Gene

Paralogs for BTBD1 Gene

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

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 Sequence Context AA Info Type
rs1000014226 -- 83,063,034(+) ATAGC(A/G)TTGAG intron-variant
rs1000082086 -- 83,027,666(+) TGCCC(C/T)GAATA intron-variant
rs1000177491 -- 83,016,348(+) TCTCA(A/G)AAAAC downstream-variant-500B
rs1000211390 -- 83,033,942(+) ACAAG(A/G)GCAAC intron-variant
rs1000270717 -- 83,046,234(+) CTACC(A/G)AAAAA 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)

Relevant External Links for BTBD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD1

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

Disorders for BTBD1 Gene

Relevant External Links for BTBD1

Genetic Association Database (GAD)
BTBD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Exp. Cell Res. 2003) 3 4 22 64
  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 64
  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 64
  4. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. (PMID: 21326860) Tsai F.J. … Wu J.Y. (PLoS ONE 2011) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for BTBD1 Gene

Sources for BTBD1 Gene

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