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 multipl... See more...

Aliases for BTBD1 Gene

Aliases for BTBD1 Gene

  • BTB Domain Containing 1 2 3 5
  • Hepatitis C Virus NS5A-Transactivated Protein 8 3 4
  • BTB/POZ Domain-Containing Protein 1 3 4
  • HCV NS5A-Transactivated Protein 8 3 4
  • BTB (POZ) Domain Containing 1 2 3
  • C15orf1 3 4
  • NS5ATP8 3 4
  • BTBD1 5

External Ids for BTBD1 Gene

Previous GeneCards Identifiers for BTBD1 Gene

  • GC15M079611
  • GC15M076717
  • GC15M081263
  • GC15M081404
  • GC15M081476
  • GC15M083685
  • GC15M059948
  • GC15M083018
  • GC15M083020
  • GC15M083023
  • GC15M083024
  • GC15M083025
  • GC15M083039
  • 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. Diseases associated with BTBD1 include Autosomal Recessive Congenital Cerebellar Ataxia and Congenital Mesoblastic Nephroma. 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 Summary 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 (PubMed:14528312). Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism (By similarity). May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity).

Gene Wiki entry for BTBD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTBD1 Gene

Genomics for BTBD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BTBD1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTBD1

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

Genomic Locations for BTBD1 Gene

Genomic Locations for BTBD1 Gene
chr15:83,016,423-83,067,258
(GRCh38/hg38)
Size:
50,836 bases
Orientation:
Minus strand
chr15:83,685,174-83,736,106
(GRCh37/hg19)
Size:
50,933 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 (via C-terminus) with TOP1 (PubMed:11818025). Interacts with TRIM5 isoform Delta (PubMed:12878161). Interacts with CUL3 (PubMed:14528312).

    Alternative splice isoforms for BTBD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD1 Gene

Post-translational modifications for BTBD1 Gene

  • Ubiquitination at Lys52, Lys264, Lys270, and Lys388
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BTBD1 Gene

InterPro:
Blocks:
  • BTB/POZ domain
  • BTB/Kelch-associated
  • PHR
ProtoNet:

Suggested Antigen Peptide Sequences for BTBD1 Gene

GenScript: Design optimal peptide antigens:
  • Hepatitis C virus NS5A-transactivated protein 8 (BTBD1_HUMAN)
  • BTB domain containing 1 (Q3ZTS5_HUMAN)
genes like me logo Genes that share domains with BTBD1: view

No data available for Graphical View of Domain Structure and 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 (PubMed:14528312). Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism (By similarity). May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity).

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:0097602 cullin family protein binding IPI 14528312
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 Models for BTBD1 Gene

MGI Knock Outs for BTBD1:
  • Btbd1 Btbd1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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:11818025, ECO:0000269 PubMed:12878161}.

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 3
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (3)
  • Rods & Rings (3)
  • Nucleoplasm (1)
See all subcellular structures

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 TAS --
GO:0032991 protein-containing 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:0007517 muscle organ development IEA --
GO:0016567 protein ubiquitination IEA --
GO:0022008 neurogenesis IBA 21873635
GO:0030154 cell differentiation IEA --
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

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD1

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

Expression for BTBD1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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; highest levels in testes, heart and skeletal muscle.

Evidence on tissue expression from TISSUES for BTBD1 Gene

  • Nervous system(4.8)
  • Muscle(2.8)
  • Kidney(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with BTBD1: view

No data available for 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 30 31
  • 99.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BTBD1 31
  • 95 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BTBD1 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Btbd1 30 17 31
  • 91.01 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BTBD1 30 31
  • 90.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Btbd1 30
  • 89.97 (n)
Cow
(Bos Taurus)
Mammalia BTBD1 30 31
  • 89.95 (n)
OneToOne
Chicken
(Gallus gallus)
Aves BTBD1 30 31
  • 84.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BTBD1 31
  • 89 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii btbd2 31
  • 61 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG17068 31
  • 19 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F38H4.7 32
  • 55 (a)
tag-30 31
  • 42 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6825 30
Species where no ortholog for BTBD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
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:

  • BTBD1_HUMAN
  • H0YL89_HUMAN
  • Q3ZTS5_HUMAN
genes like me logo Genes that share paralogs with BTBD1: view

Variants for BTBD1 Gene

Additional dbSNP identifiers (rs#s) for BTBD1 Gene

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
BTBD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTBD1 Gene

Disorders for BTBD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for BTBD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive congenital cerebellar ataxia
congenital mesoblastic nephroma
  • nephroma, mesoblastic
pediatric fibrosarcoma
  • childhood fibrosarcoma
congenital fibrosarcoma
  • infantile fibrosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search BTBD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BTBD1

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

No data available for 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 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. 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
  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 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for BTBD1 Gene

Sources for BTBD1 Gene