HOXA1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
HOXA1
Official Name
homeobox A1 [Source:HGNC Symbol;Acc:HGNC:5099]
Ensembl ID
ENSG00000105991
Bio databases IDs NCBI: 3198 Ensembl: ENSG00000105991
Aliases homeobox A1
Synonyms BSAS, ERA1, homeobox A1, HOX1, Hox-1.6, HOX1F, Hoxa1l, LOC100911406, NEWGENE 2812
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HOXA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • transcription regulator
  • basic tetrad
  • double-stranded DNA binding
  • protein binding
  • sequence-specific DNA binding
  • homeodomain
  • identical protein binding

Pathways

Biological processes and signaling networks where the HOXA1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • glioblastoma
  • glioblastoma cancer
  • Athabaskan brainstem dysgenesis syndrome
  • neoplastic cell transformation
  • leukemia
  • anoxia
  • respiratory failure
  • glossopharyngeal-vagus nerve fusion
  • early missed abortion
  • muscle spasm
regulated by
regulates
role in cell
  • quantity
  • expression in
  • apoptosis
  • growth
  • proliferation
  • differentiation
  • migration
  • development
  • invasion
  • invasion by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HOXA1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • inner ear development
  • cochlea development
  • cochlea morphogenesis
  • neuromuscular process
  • embryonic neurocranium morphogenesis
  • abducens nerve formation
  • outer ear morphogenesis
  • artery morphogenesis
  • anatomical structure morphogenesis
  • optokinetic behavior
  • positive regulation of transcription from RNA polymerase II promoter
  • artery development
  • semicircular canal formation
  • regulation of transcription from RNA polymerase II promoter
  • regulation of behavior
  • sensory perception of sound
  • cognition

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • chromatin

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • sequence-specific DNA binding
  • sequence-specific DNA binding RNA polymerase II transcription factor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.