Characterization of human Enah gene

Biochim Biophys Acta. Jan-Feb 2006;1759(1-2):99-107. doi: 10.1016/j.bbaexp.2006.01.001. Epub 2006 Jan 25.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • DNA, Complementary / genetics*
  • DNA, Complementary / isolation & purification
  • Gene Expression Regulation
  • Humans
  • Mice
  • Microfilament Proteins / genetics*
  • Molecular Sequence Data
  • Protein Isoforms / isolation & purification
  • RNA, Messenger / analysis
  • Sequence Homology, Amino Acid

Substances

  • DNA, Complementary
  • Enah protein, human
  • Microfilament Proteins
  • Protein Isoforms
  • RNA, Messenger

Associated data

  • GENBANK/AY345143