Characterization of human Enah gene

Lorena Urbanelli, Carlo Massini, Carla Emiliani, Antonio Orlacchio, Giorgio Bernardi, Aldo Orlacchio

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)99-107
Number of pages9
JournalBBA - Gene Structure and Expression
Volume1759
Issue number1-2
DOIs
Publication statusPublished - Jan 2006

Fingerprint

Genes
Amino Acids
Drosophila
Amino Acid Repetitive Sequences
Tissue
Signal transduction
Phosphorylation
Actin Cytoskeleton
Northern Blotting
Tyrosine
Vertebrates
Actins
Amino Acid Sequence
Exons
Signal Transduction
Protein Isoforms
Complementary DNA
Polymerase Chain Reaction
Proteins
vasodilator-stimulated phosphoprotein

Keywords

  • Alzheimer's disease
  • Cloning
  • Cytoskeleton
  • Ena/VASP family

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Genetics
  • Structural Biology

Cite this

Urbanelli, L., Massini, C., Emiliani, C., Orlacchio, A., Bernardi, G., & Orlacchio, A. (2006). Characterization of human Enah gene. BBA - Gene Structure and Expression, 1759(1-2), 99-107. https://doi.org/10.1016/j.bbaexp.2006.01.001

Characterization of human Enah gene. / Urbanelli, Lorena; Massini, Carlo; Emiliani, Carla; Orlacchio, Antonio; Bernardi, Giorgio; Orlacchio, Aldo.

In: BBA - Gene Structure and Expression, Vol. 1759, No. 1-2, 01.2006, p. 99-107.

Research output: Contribution to journalArticle

Urbanelli, L, Massini, C, Emiliani, C, Orlacchio, A, Bernardi, G & Orlacchio, A 2006, 'Characterization of human Enah gene', BBA - Gene Structure and Expression, vol. 1759, no. 1-2, pp. 99-107. https://doi.org/10.1016/j.bbaexp.2006.01.001
Urbanelli L, Massini C, Emiliani C, Orlacchio A, Bernardi G, Orlacchio A. Characterization of human Enah gene. BBA - Gene Structure and Expression. 2006 Jan;1759(1-2):99-107. https://doi.org/10.1016/j.bbaexp.2006.01.001
Urbanelli, Lorena ; Massini, Carlo ; Emiliani, Carla ; Orlacchio, Antonio ; Bernardi, Giorgio ; Orlacchio, Aldo. / Characterization of human Enah gene. In: BBA - Gene Structure and Expression. 2006 ; Vol. 1759, No. 1-2. pp. 99-107.
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