HAL - histidine ammonia-lyase Gene

Homo sapiens

Also known as HIS; HSTD

Gene ID: 3034 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (3)

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 Sets	/	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
Macaca fascicularis	HAL	NCBI	NCBI:102115226
Others	HAL	NCBI

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