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Aliases for BTBD1 Gene

Aliases for BTBD1 Gene

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

External Ids for BTBD1 Gene

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 (POZ) Domain Containing 1) is a Protein Coding gene. Diseases associated with BTBD1 include hepatitis c virus and hepatitis c. 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

Genomic Location for BTBD1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BTBD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys52, Lys264, Lys270, and Lys388

Other Protein References for BTBD1 Gene

No data available for DME Specific Peptides for BTBD1 Gene

Domains for BTBD1 Gene

Gene Families for BTBD1 Gene

HGNC:
  • BTBD :BTB/POZ domain containing

Protein Domains for BTBD1 Gene

UniProtKB/Swiss-Prot:

BTBD1_HUMAN
Domain:
  • Contains 1 BTB (POZ) domain.:
    • Q9H0C5
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.

Gene Ontology (GO) - Molecular Function for BTBD1 Gene

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

Phenotypes for BTBD1 Gene

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

miRNA for BTBD1 Gene

miRTarBase miRNAs that target BTBD1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for BTBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 cytoplasmic mRNA processing body IDA 12878161
GO:0043234 protein complex IDA --
genes like me logo Genes that share ontologies with BTBD1: view

Pathways for BTBD1 Gene

SuperPathways for BTBD1 Gene

No Data Available

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:0043393 regulation of protein binding NAS 11179693
genes like me logo Genes that share ontologies with BTBD1: view

No data available for Pathways by source for BTBD1 Gene

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 (7.2).

Integrated Proteomics: protein expression 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 expressions with BTBD1: view

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
  • 99.59 (n)
  • 100 (a)
BTBD1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BTBD1 36
  • 89.95 (n)
  • 95.84 (a)
BTBD1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BTBD1 36
  • 90.6 (n)
  • 99.72 (a)
BTBD1 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btbd1 36
  • 91.01 (n)
  • 97.51 (a)
Btbd1 16
Btbd1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BTBD1 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD1 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btbd1 36
  • 89.97 (n)
  • 97.51 (a)
chicken
(Gallus gallus)
Aves BTBD1 36
  • 84.93 (n)
  • 96.01 (a)
BTBD1 37
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTBD1 37
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii btbd2 37
  • 61 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17068 37
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tag-30 37
  • 42 (a)
OneToMany
F38H4.7 38
  • 55 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6825 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs7757 -- 83,016,688(-) TGGGA(C/T)GTGTG utr-variant-3-prime
rs716886 -- 83,047,101(+) TACAC(A/G)AGACA intron-variant
rs874247 -- 83,061,818(+) AACTG(G/T)AAAAG intron-variant
rs1045635 -- 83,018,145(-) TTTTT(C/T)TTTTT utr-variant-3-prime, reference, synonymous-codon
rs1045742 -- 83,016,562(-) GACCT(A/T)TTAAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv7269 OTHER Inversion 18451855

Relevant External Links for BTBD1 Gene

HapMap Linkage Disequilibrium report
BTBD1

Disorders for BTBD1 Gene

Relevant External Links for BTBD1

Genetic Association Database (GAD)
BTBD1
genes like me logo Genes that share disorders with BTBD1: view

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

Publications for BTBD1 Gene

  1. 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 23
  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 23
  3. 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 23
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for BTBD1 Gene

Sources for BTBD1 Gene

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