BTBD1

BTB/POZ domain-containing protein 1 is a protein that in humans is encoded by the BTBD1 gene.^[5]

BTBD1
Identifiers
Aliases	BTBD1, C15orf1, NS5ATP8, BTB domain containing 1
External IDs	OMIM: 608530; MGI: 1933765; HomoloGene: 23529; GeneCards: BTBD1; OMA:BTBD1 - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q25.2 Start 83,016,423 bp[1] End 83,067,252 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 D3 Start 81,441,822 bp[2] End 81,479,179 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of rectus abdominis vastus lateralis muscle biceps brachii body of tongue thoracic diaphragm Skeletal muscle tissue of biceps brachii deltoid muscle glutes tibialis anterior muscle myocardium Top expressed in spermatid spermatocyte testicle ovary quadriceps femoris muscle muscle of thigh neural layer of retina skeletal muscle tissue olfactory bulb dentate gyrus of hippocampal formation granule cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding ubiquitin protein ligase binding Cellular component cytoplasm P-body SCF ubiquitin ligase complex cytosol protein-containing complex Biological process regulation of protein binding protein ubiquitination regulation of proteolysis proteasome-mediated ubiquitin-dependent protein catabolic process neurogenesis post-translational protein modification muscle organ development cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 53339 83962 Ensembl ENSG00000064726 ENSMUSG00000025103 UniProt Q9H0C5 P58544 RefSeq (mRNA) NM_001011885 NM_025238 NM_146193 RefSeq (protein) NP_001011885 NP_079514 NP_666305 Location (UCSC) Chr 15: 83.02 – 83.07 Mb Chr 7: 81.44 – 81.48 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[5]

Interactions

BTBD1 has been shown to interact with TOP1.^[6]