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HAL - histidine ammonia-lyase Gene

Also Known as HIS; HSTD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3034

About HAL

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:95,972,662-95,996,344 (from NCBI)

This gene has 11 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Biased expression in skin (RPKM 20.5), liver (RPKM 18.5) and 2 other tissues.

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 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]

HAL Products (3)

mRNA	Protein	Name
NM_001258333.2	NP_001245262.1	histidine ammonia-lyase isoform 2
NM_001258334.2	NP_001245263.1	histidine ammonia-lyase isoform 3
NM_002108.4	NP_002099.1	histidine ammonia-lyase isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables histidine ammonia-lyase activity	EXP EXP: Inferred from Experiment	15806399	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HAL Protein Structure

Lyase_aromatic

0
200
400
600
657 a.a.

Protein Preferred Names	Protein Names
histidine ammonia-lyase	histidase

Related Diseases

Diseases	Alias
Histidinemia	Histidine Ammonia-Lyase Deficiency Hal Deficiency Histidase Deficiency His Deficiency Histidinuria Hyperhistidinemia HISTID Histidinuria Renal Tubular Defect
Histidine Metabolism Disease	Disturbances Of Histidine Metabolism Disorder Of Histidine Metabolism Disturbance Of Histidine Metabolism
Palmoplantar Keratoderma, Bothnian Type	PPKB Diffuse Palmoplantar Keratoderma, Bothnian Type Bothnian Type Palmoplantar Keratoderma Keratoderma, Palmoplantar, Bothnian Type Palmoplantar Keratoderma, Nonepidermolytic
Corneal Dystrophy, Meesmann, 1	Meesmann Corneal Dystrophy Mecd Corneal Dystrophy, Meesmann Epithelial Juvenile Hereditary Epithelial Dystrophy Corneal Dystrophy, Juvenile Epithelial Of Meesmann MECD1 Meesmann Corneal Dystrophy 1 Meesmann Corneal Epithelial Dystrophy Meesmann Epithelial Corneal Dystrophy Corneal Dystrophy, Juvenile Epithelial, Of Meesmann Stocker-Holt Dystrophy Meesman Dystrophy Meesman'S Corneal Dystrophy Juvenile Hereditary Epithelial Dystrophy Of Meesmann Corneal Dystrophy, Meesmann 1 Juvenile Epithelial Corneal Dystrophy Of Meesmann Mcd Dystrophy, Corneal, Meesmann

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-157181	Hal-HS		/	Unkown
HY-157943	Hexyl 5-aminolevulinate		/	Unkown
HY-RS05994	HAL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17870	Hal Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24339	Hal Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HAL	MGD	MGI:96010
Macaca mulatta	HAL	VGNC	VGNC:73344
Rattus norvegicus	HAL	RGD	RGD:68363
Bos taurus	HAL	VGNC	VGNC:29744
Felis catus	HAL	VGNC	VGNC:67534
Canis familiaris	HAL	VGNC	VGNC:41587
Others	HAL	NCBI