title: Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24.
abstract: 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.
authors.affiliation: Medical and Molecular Genetics Center, Institut de Recerca Oncològica, Hospital Duran i Reynals, Av. Gran Via s/n km 2,7L'Hospitalet de Llobregat, 08907, Barcelona, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Carim-Todd
authors.forename: L
authors.initials: L
authors.lastname: Sumoy
authors.forename: N
authors.initials: N
authors.lastname: Andreu
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: M
authors.initials: M
authors.lastname: Escarceller
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002884:Chromosomes, Human, Pair 15; D002888:Chromosomes, Human, Pair 19; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D020224:Expressed Sequence Tags; D005786:Gene Expression Regulation; D006321:Heart / Q000502:physiology; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000502:physiology; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D016335:Zinc Fingers
chemical_list: C429757:BTBD1 protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors