HAL (histidine ammonia-lyase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3034
Gene name Histidine ammonia-lyase
Gene symbol HAL
Synonyms (NCBI Gene)
HISHSTD
Chromosome 12
Chromosome location 12q23.1
Summary 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
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs121434327 C>G,T Affects Upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434328 C>A,T Affects Upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434329 G>A Affects Upstream transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434330 C>G,T Affects Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
31
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (31)
miRTarBase ID miRNA Experiments Reference
MIRT020785 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT525708 hsa-miR-128-3p PAR-CLIP 22012620
MIRT525707 hsa-miR-216a-3p PAR-CLIP 22012620
MIRT525706 hsa-miR-3681-3p PAR-CLIP 22012620
MIRT525705 hsa-miR-873-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004397 Function Histidine ammonia-lyase activity EXP 15806399
GO:0004397 Function Histidine ammonia-lyase activity IBA
GO:0004397 Function Histidine ammonia-lyase activity IEA
GO:0005515 Function Protein binding IPI 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609457 4806 ENSG00000084110
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42357
Protein name Histidine ammonia-lyase (Histidase) (EC 4.3.1.3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12053 Par3_HAL_N_term 3 → 86 N-terminal of Par3 and HAL proteins Family
PF00221 Lyase_aromatic 121 → 585 Aromatic amino acid lyase Family
Sequence
Sequence length 657
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Histidine metabolism
Metabolic pathways 		  Histidine catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (50)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 2027299
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 2027299
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 8608960
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 25575548
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27696788 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25575548
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 35978033 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 22048691
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 31174203
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 31174203
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations