Characterization of human Enah gene.
Enabled homolog (Enah) is a mammalian ortholog of Drosophila Enabled (Ena), which is genetically linked to the Drosophila Abl tyrosine phosphorylation signaling cascade and is required for normal neural development. Vertebrates have three Ena-related genes: Enah, VASP (vasodilator-stimulated phosphoprotein) and Ena/VASP like (EVL). These genes play an important role in linking signal transduction pathways to localized remodeling of the actin cytoskeleton. We isolated and sequenced a cDNA encoding human Enah. Comparison of the amino acid sequences of mouse (Mus musculus) and human (Homo sapiens) species shows 86.6% identity. The human protein appears longer than the mouse and additional amino acids are concentrated in a region containing repeats of the amino acid sequence LERER. The complete gene is about 157 kb and consists of 14 exons. Analysis of multiple tissue northern blot revealed a major transcript of about 4.8 kb in all tissue examined. Alternatively spliced isoforms were isolated by RT-PCR. The gene is differentially expressed and to gain insight factors affecting its expression we cloned and preliminarily characterized human Enah gene promoter.
Urbanelli
Lorena
L
Dipartimento di Medicina Sperimentale e Scienze Biochimiche, Sezione di Biochimica e Biologia Molecolare, Università degli Studi di Perugia, via del Giochetto, 06122 Perugia, Italy.
Massini
Carlo
C
Emiliani
Carla
C
Orlacchio
Antonio
A
Bernardi
Giorgio
G
Orlacchio
Aldo
A
D000595:Amino Acid Sequence; D000818:Animals; D018076:DNA, Complementary / Q000235:genetics* / Q000302:isolation & purification; D005786:Gene Expression Regulation; D006801:Humans; D051379:Mice; D008840:Microfilament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020033:Protein Isoforms / Q000302:isolation & purification; D012333:RNA, Messenger / Q000032:analysis; D017386:Sequence Homology, Amino Acid
D018076:DNA, Complementary; C511939:Enah protein, human; D008840:Microfilament Proteins; D020033:Protein Isoforms; D012333:RNA, Messenger