HAL Gene Summary [Human]
Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | HAL |
| Official Name | histidine ammonia-lyase [Source:HGNC Symbol;Acc:HGNC:4806] |
| Ensembl ID | ENSG00000084110 |
| Bio databases IDs | |
| Aliases | histidine ammonia-lyase |
| Synonyms | HIS, histidase, histidine ammonia-lyase, Hsd, HSTD |
| Species | Human, Homo sapiens |
| Orthologies |
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 HAL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histidine ammonia-lyase
- Lyase class I-like
- Aromatic amino acid lyase
- phenylalanine aminomutase (L-beta-phenylalanine forming)
- enzyme
- N-terminal of Par3 and HAL proteins
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- liver cancer
- epithelial cancer
- epithelial basal cell carcinoma
- cutaneous melanoma
- cutaneous melanoma cancer
- skin neoplasm
- skin neoplasia
- skin squamous cell carcinoma
- squamous cell skin cancer
regulates
- L-histidine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HAL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- histidine catabolic process
- histidine catabolic process to glutamate and formate
- histidine catabolic process to glutamate and formamide
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- histidine ammonia-lyase activity