Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24

Laura Carim-Todd, Lauro Sumoy, Nuria Andreu, Xavier P. Estivill, Mònica Escarceller

Research output: Contribution to journalArticle

12 Citations (Scopus)


Working within the EUROIMAGE full-length cDNA sequencing project we have isolated BTBD1, a novel human gene with a BTB/POZ domain. This motif is found in developmentally regulated zinc finger proteins and in the kelch family of actin-associated proteins, and is thought to mediate protein-protein interactions. The BTBD1 gene encodes a transcript of 3188 nt with an ORF of 482 amino acids and a predicted protein product size of 52.7 kDa. Northern blot analysis revealed an enhanced BTBD1 expression in heart and skeletal muscle. We have identified a paralogous BTBD1 counterpart gene on chromosome 19, BTBD2. BTBD1 was mapped to chromosome 15q24. Conservation of multiple pairs of genes between 15q24 and 19p13.3-p12 suggests their possible common chromosomal origin. We show the existence of the murine BTBD1 and BTBD2 orthologous genes, as well as the partial rat and bovine homologs.

Original languageEnglish
Pages (from-to)275-281
Number of pages7
Issue number1-2
Publication statusPublished - 10 Jan 2001
Externally publishedYes



  • 15q24
  • 19p
  • BTB (POZ) domain containing 1

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics

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