BTBD1

BTBD1
Identifiers
Aliases	BTBD1 , C15orf1, NS5ATP8, BTB domain containing 1
External IDs	OMIM: 608530 MGI: 1933765 HomoloGene: 23529 GeneCards: BTBD1
Gene location (Human)
Chr.	Chromosome 15 (human)
End	83,067,252 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	81,479,179 bp
RNA expression pattern
	Top expressed in
	vastus lateralis muscle; ; biceps brachii; ; body of tongue; ; thoracic diaphragm; ; deltoid muscle; ; tibialis anterior muscle; ; myocardium; ; triceps brachii muscle; ; endothelial cell; ; gastrocnemius muscle;
	Top expressed in
	spermatid; ; spermatocyte; ; testicle; ; ovary; ; quadriceps femoris muscle; ; skeletal muscle tissue; ; olfactory bulb; ; mirror; ; zone of skin; ; heart;
	More reference expression data
	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
	53339
	83962
	ENSG00000064726
	ENSMUSG00000025103
	Q9H0C5
	P58544
	NM_001011885 ; NM_025238
	NM_146193
	NP_001011885 ; NP_079514
	NP_666305
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated September 26, 2022

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]

Related Research Articles

Transcriptional regulator Kaiso is a protein that in humans is encoded by the ZBTB33 gene. This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-α2, which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.

BTB/POZ domain-containing protein 2 is a protein that in humans is encoded by the BTBD2 gene.

Myotubularin-related protein 6 is a protein that in humans is encoded by the MTMR6 gene.

Zinc finger protein 43 is a protein that in humans is encoded by the ZNF43 gene.

Beta-taxilin is a protein that in humans is encoded by the TXLNB gene.

RCC1 and BTB domain-containing protein 1 is a protein that in humans is encoded by the RCBTB1 gene.

Stannin is a protein that in humans is encoded by the SNN gene.

LisH domain-containing protein ARMC9 is a protein that in humans is encoded by the ARMC9 gene.

Transmembrane protein 47 is a protein that in humans is encoded by the TMEM47 gene.

Activating signal cointegrator 1 complex subunit 3 is a protein that in humans is encoded by the ASCC3 gene.

FCH domain only protein 2 is a protein that in humans is encoded by the FCHO2 gene.

Synaptotagmin-13 is a protein that in humans is encoded by the SYT13 gene.

RNA-binding protein MEX3B is a protein that in humans is encoded by the MEX3B gene.

Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene. It is part of the Mitochondrial Pyruvate Carrier (MPC) protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.

Zinc finger protein 471 is a protein that in humans is encoded by the ZNF471 gene.

Zinc finger protein 34 is a protein that in humans is encoded by the ZNF34 gene.

Ankyrin repeat domain-containing protein 13C is a protein that in humans is encoded by the ANKRD13C gene.

Kelch repeat and BTB domain-containing protein 7 is a protein that in humans is encoded by the KBTBD7 gene.

Opalin is a protein that in humans is encoded by the OPALIN gene.

60S ribosomal protein L10-like is a protein that in humans is encoded by the RPL10L gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000064726 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025103 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: BTBD1 BTB (POZ) domain containing 1".
↑ 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 .

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000064726 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: BTBD1 BTB (POZ) domain containing 1".

[pmid11818025-6] 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.

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