Recombinant Human Homeobox protein Hox-A1 (HOXA1)

Uniprot Id

P49639

Target Species

Human

Target Name

HOXA1

Target Full Name

Homeobox protein Hox-A1

Target Function

Sequence-specific transcription factor. Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior. Also 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 and/or generation of hindbrain segments. Activates transcription in the presence of PBX1A and PKNOX1.

Target Involvement

Athabaskan brainstem dysgenesis syndrome (ABDS); Bosley-Salih-Alorainy syndrome (BSAS)

Target Subcellular Location

Nucleus.

Target Protein Families

Antp homeobox family, Labial subfamily

Target Synonyms

BSAS; Homeo box A1; Homeobox 1F; Homeobox A1; Homeobox protein Hox A1; Homeobox protein Hox-1F; Homeobox protein Hox-A1; Hox 1.6 like protein; Hox 1F; HOX A1; HOX A1 homeodomain protein; HOX1; HOX1F; hoxa1; hoxb1b; HXA1_HUMAN; Lab like protein; MGC45232

Target Background

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.