HOXA1

Homeobox protein Hox-A1 is a transcription factor encoded by HOXA1 gene. This gene is one of the four types of homeobox genes each of which contains a homobox DNA sequence that codes for the homeodomain, a region of 60 amino acids responsible for the DNA binding exhibited by these homeobox proteins. These Homeobox genes are essential metazoan genes as they determine the identity of embryonic regions along the anterio-posterior axis. The homeobox protein Hox-A1 may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Early in its development, the vertebrate hindbrain is transiently subdivided into a series of compartments called rhombomeres. Genes have been identified whose expression patterns distinguish these cellular compartments. Two of these genes, Hoxa1 and Hoxa2, have been shown to be required for proper patterning of the early mouse hindbrain and the associated neural crest. It has been detected HOXA1 expression in a variety of human breast cancer lesions, suggesting that HOXA1 may be required for the establishment of breast cancer cells phenotype.

HOXA1 Related Areas

 

HOXA1 Alternative Names

 

Summaries for HOXA1

Entrez Gene summary for HOXA1:

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.

OMIM - description for HOXA1:

See 142950. In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on 4 separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. Hong et al. (1995) determined the structure of the first gene in the homeobox A cluster, HOXA1, by cloning its full-length cDNA, which predicts a protein of 335 amino acids. In vitro translation produced the expected 36-kD protein. An alternatively spliced cDNA was also obtained. In PA-1 teratocarcinoma cells, HOXA1 was induced by retinoic acid earlier than other HOXA cluster genes.

Wikipedia summary for HOXA1:

Homeobox protein Hox-A1 is a protein that in humans is encoded by the HOXA1 gene.

Human HOXA1 Protein General Information

 

• Protein names: Recommended name: Homeobox protein Hox-A1
• Sequence length: 335 AA.
• Domain: Homeobox
• Sequence similarities: Belongs to the Antp homeobox family. Labial subfamily. Contains 1 homeobox DNA-binding domain.
• Subcellular location: Nucleus.
• Involvement in disease: Defects in HOXA1 are the cause of Athabaskan brainstem dysgenesis syndrome (ABDS) [MIM:601536]; also known as Narvajo brainstem syndrome. This syndrome is characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. Ref.9 Defects in HOXA1 are the cause of Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]. Affected individuals show horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. In contrast to individuals with ABSD, central hypoventilation is not observed in individuals with BSAS.

General information above from UniProt

Function for HOXA1 Protein

UniProtKB:

Sequence-specific transcription factor which is 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.

Genatlas:

• HOXA1 plays important roles in patterning segmental units (rhombomeres) (Studer 1998)
• HOXA1 plays important roles in patterning segmental units (rhombomeres)involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development

Homology for human HOXA1

• homolog to murine Hox-1.6
• homolog to Drosophila 1ab

Phenotype Information for HOXA1

• Gene/Locus: HOXA1, HOX1F, BSAS
• Phenotype: Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome

Phenotype Information for HOXA1 from OMIM (Online Mendelian Inheritance in Man)

Drugs for HOXA1

Target	Drug Name	Disease	Drug Status
HOXA1	Halazepam	Anxiety disorder	Approved
HOXA1	Methylphenobarbital	Anxiety disorder	Approved
HOXA1	Methoxyflurane	Anesthetic	Approved
HOXA1	Thiamylal	Anesthesia	Approved
HOXA1	Butethal	Insomnia	Approved
HOXA1	Prazepam	Anxiety disorder	Approved

Drugs for HOXA1 from TTD (Therapeutic Targets Database)