HAX-1: a multifunctional protein with emerging roles in human disease

Biochim Biophys Acta. 2009 Oct;1790(10):1139-48. doi: 10.1016/j.bbagen.2009.06.004. Epub 2009 Jun 12.

Abstract

HS-1-associated protein X-1 (HAX-1) was identified more than 10 years ago as a novel protein with ubiquitous tissue expression and a predominantly mitochondrial localization at the subcellular level. Recent studies have shown that homozygous mutations in the HAX1 gene are associated with autosomal recessive forms of severe congenital neutropenia (also known as Kostmann disease), and results from studies in mice and men are beginning to unravel a prominent role for HAX-1 in apoptosis signaling not only in the hematopoietic compartment, but also in the central nervous system. Moreover, several different cellular and viral binding partners of HAX-1 have been identified thus pointing toward a complex and multifunctional role of this protein. HAX-1 has also been shown to bind to the 3' untranslated regions of certain mRNAs and could therefore contribute to the regulation of transport and/or stability of such transcripts. The present review discusses the emerging and divergent roles of HAX-1, including its involvement in cell migration, apoptosis signaling, and mRNA surveillance. The importance of HAX-1 in human disease is also highlighted and outstanding questions that remain to be addressed are identified.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Apoptosis / genetics
  • Apoptosis / physiology
  • Cell Movement / genetics
  • Cell Movement / physiology
  • Humans
  • Mitochondrial Proteins / genetics
  • Mitochondrial Proteins / metabolism
  • Mitochondrial Proteins / physiology*
  • Models, Biological
  • Mutation
  • Neutropenia / congenital
  • Neutropenia / genetics
  • Neutropenia / physiopathology*
  • Proteins / genetics
  • Proteins / metabolism
  • Proteins / physiology*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • RNA-Binding Proteins / genetics
  • RNA-Binding Proteins / metabolism
  • RNA-Binding Proteins / physiology

Substances

  • Adaptor Proteins, Signal Transducing
  • HAX1 protein, human
  • Mitochondrial Proteins
  • Proteins
  • RNA, Messenger
  • RNA-Binding Proteins