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Aliases for BTBD1 Gene

Aliases for BTBD1 Gene

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

External Ids for BTBD1 Gene

Previous GeneCards Identifiers for BTBD1 Gene

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

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 Immune System and Antigen processing- Ubiquitination and Proteasome degradation. An important paralog of this gene is BTBD9.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD1 Gene

Genomics for BTBD1 Gene

Regulatory Elements for BTBD1 Gene

Promoters for BTBD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BTBD1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for BTBD1 Gene at MOPED

Post-translational modifications for BTBD1 Gene

  • Ubiquitination at Lys 52, Lys 264, Lys 270, and Lys 388
  • Modification sites at PhosphoSitePlus

Other Protein References for BTBD1 Gene

Antibody Products

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

Q9H0C5

UniProtKB/Swiss-Prot:

BTBD1_HUMAN :
  • Contains 1 BTB (POZ) domain.
Domain:
  • Contains 1 BTB (POZ) domain.
genes like me logo Genes that share domains with BTBD1: view

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 for BTBD1 Gene

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

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for BTBD1 Gene COMPARTMENTS Subcellular localization image for BTBD1 gene
Compartment Confidence
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components 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

None

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:

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 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, MOPED, and MaxQB for BTBD1 Gene



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.
genes like me logo Genes that share expression patterns with BTBD1: view

Protein tissue co-expression partners for BTBD1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 36
  • 100 (a)
OneToOne
BTBD1 35
  • 99.59 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia BTBD1 36
  • 96 (a)
OneToOne
BTBD1 35
  • 89.95 (n)
  • 95.84 (a)
dog
(Canis familiaris)
Mammalia BTBD1 35
  • 90.6 (n)
  • 99.72 (a)
BTBD1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btbd1 16
Btbd1 35
  • 91.01 (n)
  • 97.51 (a)
Btbd1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BTBD1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD1 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btbd1 35
  • 89.97 (n)
  • 97.51 (a)
chicken
(Gallus gallus)
Aves BTBD1 35
  • 84.93 (n)
  • 96.01 (a)
BTBD1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTBD1 36
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii btbd2 36
  • 61 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17068 36
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F38H4.7 37
  • 55 (a)
tag-30 36
  • 42 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6825 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToMany
Species with no ortholog for BTBD1:
  • 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
rs7757 -- 83,016,688(-) TGGGA(C/T)GTGTG utr-variant-3-prime
rs1045635 -- 83,018,145(+) TTTTT(A/C/G/T)TTTTT downstream-variant-500B, reference, synonymous-codon, utr-variant-3-prime
rs1045742 -- 83,016,562(-) GACCT(A/T)TTAAA utr-variant-3-prime
rs2053948 -- 83,029,114(+) TATAG(A/T)TATTG intron-variant
rs2167603 -- 83,055,658(+) TCCAG(C/G)AGTAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7269 OTHER Inversion 18451855

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

HapMap Linkage Disequilibrium report
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. 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 23 67
  2. 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 23
  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 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Novel Cul3 binding proteins function to remodel E3 ligase complexes. (PMID: 25011449) Wimuttisuk W. … Singer J.D. (BMC Cell Biol. 2014) 3

Products for BTBD1 Gene

Sources for BTBD1 Gene

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