BTBD1

Protein-coding gene in the species Homo sapiens
BTBD1
Identifiers
AliasesBTBD1, C15orf1, NS5ATP8, BTB domain containing 1
External IDsOMIM: 608530; MGI: 1933765; HomoloGene: 23529; GeneCards: BTBD1; OMA:BTBD1 - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for BTBD1
Genomic location for BTBD1
Band15q25.2Start83,016,423 bp[1]
End83,067,252 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for BTBD1
Genomic location for BTBD1
Band7|7 D3Start81,441,822 bp[2]
End81,479,179 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 7: 81.44 – 81.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000064726 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.

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.


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