BTBD1

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
View/Edit Human View/Edit Mouse

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

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]

References

1. GRCh38: Ensembl release 89: ENSG00000064726 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025103 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: BTBD1 BTB (POZ) domain containing 1".
6. Xu L, Yang L, Hashimoto K, Anderson M, Kohlhagen G, Pommier Y, D'Arpa P (2002). "Characterization of BTBD1 and BTBD2, two similar BTB-domain-containing Kelch-like proteins that interact with Topoisomerase I". BMC Genomics. 3: 1. doi: 10.1186/1471-2164-3-1 . PMC   64781 . PMID   11818025.

External links

• Human BTBD1 genome location and BTBD1 gene details page in the UCSC Genome Browser .

Further reading

• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (Mar 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi: 10.1073/pnas.97.7.3491 . PMC   16267 . PMID   10737800.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Carim-Todd L, Sumoy L, Andreu N, Estivill X, Escarceller M (Jan 2001). "Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24". Gene. 262 (1–2): 275–81. doi:10.1016/S0378-1119(00)00513-8. PMID   11179693.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• Xu L, Yang L, Hashimoto K, Anderson M, Kohlhagen G, Pommier Y, D'Arpa P (2003). "Characterization of BTBD1 and BTBD2, two similar BTB-domain-containing Kelch-like proteins that interact with Topoisomerase I". BMC Genomics. 3: 1. doi: 10.1186/1471-2164-3-1 . PMC   64781 . PMID   11818025.
• Xu L, Yang L, Moitra PK, Hashimoto K, Rallabhandi P, Kaul S, Meroni G, Jensen JP, Weissman AM, D'Arpa P (August 2003). "BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta". Experimental Cell Research. 288 (1): 84–93. doi:10.1016/S0014-4827(03)00187-3. PMID   12878161.
• Pisani DF, Cabane C, Derijard B, Dechesne CA (November 2004). "The topoisomerase 1-interacting protein BTBD1 is essential for muscle cell differentiation" (PDF). Cell Death and Differentiation. 11 (11): 1157–65. doi:10.1038/sj.cdd.4401479. PMID   15486563. S2CID   33142531.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (Oct 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (Jan 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.