HAL (histidine ammonia-lyase)

2014-11-01  

Identity

HGNC
LOCATION
12q23.1
LOCUSID
ALIAS
HIS,HSTD

Other Information

Locus ID:

NCBI: 3034
MIM: 609457
HGNC: 4806
Ensembl: ENSG00000084110

Variants:

dbSNP: 3034
ClinVar: 3034
TCGA: ENSG00000084110
COSMIC: HAL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000084110ENST00000261208P42357
ENSG00000084110ENST00000538703P42357
ENSG00000084110ENST00000541929P42357
ENSG00000084110ENST00000544080Q4VB95
ENSG00000084110ENST00000546579F8W0V1
ENSG00000084110ENST00000546999Q4VB95
ENSG00000084110ENST00000548808H0YHB0
ENSG00000084110ENST00000552509F8VNX0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Histidine metabolismKEGGko00340
Histidine metabolismKEGGhsa00340
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Histidine catabolismREACTOMER-HSA-70921
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
186414012008A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions.14
255755482015Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease.14
158063992005Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.8
182807052008Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid.8
157412412005Regulation by glucagon of the rat histidase gene promoter in cultured rat hepatocytes and human hepatoblastoma cells.4
314359912019Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival.1

Citation

Dessen P

HAL (histidine ammonia-lyase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64164/hal