homeobox protein HOX-A1; HOX-1F (HOXA1, HOX1F)

Function

• sequence-specific transcription factor
• part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
• acts on the anterior body structures
• seems to act in the maintenance &/or generation of hindbrain segments

Structure

• belongs to the antp homeobox family, Labial subfamily
• contains 1 homeobox DNA-binding domain

Compartment

nucleus

Alternative splicing

named isoforms=3

Pathology

• defects in HOXA1 are the cause of
  • Athabaskan brainstem dysgenesis syndrome
  • Bosley-Salih-Alorainy syndrome

More general terms

• homeobox protein

Database

• UniProt: http://www.uniprot.org/uniprot/P49639.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3198
• OMIM: https://mirror.omim.org/entry/142955
• OMIM: https://mirror.omim.org/entry/601536
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3198