Aliases for HOXA1 Gene
External Ids for HOXA1 Gene
Previous HGNC Symbols for HOXA1 Gene
Previous GeneCards Identifiers for HOXA1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for HOXA1 Gene
HOXA1 (Homeobox A1) is a Protein Coding gene. Diseases associated with HOXA1 include Athabaskan Brainstem Dysgenesis Syndrome and Microtia, Hearing Impairment, And Cleft Palate. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXB1.
UniProtKB/Swiss-Prot Summary for HOXA1 Gene
Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMed:16155570). 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 (By similarity). Activates transcription in the presence of PBX1A and PKNOX1 (By similarity).