组氨酸解氨酶

组氨酸解氨酶
命名
系统命名
缩写
识别码
EC編號	4.3.1.3
CAS号	9013-75-6
数据库
IntEnz	IntEnz浏览
BRENDA（英语：BRENDA）	BRENDA入口
ExPASy（英语：ExPASy）	NiceZyme浏览
KEGG	KEGG入口
MetaCyc（英语：MetaCyc）	代谢路径
PRIAM（英语：PRIAM_enzyme-specific_profiles）	概述
PDB	RCSB PDB PDBj PDBe PDBsum
基因本体	AmiGO / EGO
搜索
PMC	相关文献
PubMed	相关文献

组氨酸解氨酶
组氨酸解氨酶
标识
代号	HAL; HIS; HSTD
扩展标识	遗传学：609457 鼠基因：96010 同源基因：68229 GeneCards: HAL Gene
EC編號	4.3.1.3
基因本体论描述
分子功能	· histidine ammonia-lyase activity; · lyase activity;
细胞成分	· soluble fraction; · cytoplasm; · cytosol;
生物过程	· histidine catabolic process; · biosynthetic process; · cellular nitrogen compound metabolic process;
	Sources: Amigo / QuickGO
直系同源体
物种	人类
Entrez	3034
Ensembl	ENSG00000084110
UniProt	P42357
mRNA序列	NM_002108
蛋白序列	NP_002099
基因位置	Chr 12:; 96.37 – 96.39 Mb
PubMed查询	[1]
	查; 论; 编;

组氨酸解氨酶（英語：Histidine ammonia-lyase，或称为组氨酸氨裂解酶或组氨酸酶）在人体中是一种由HAL基因编码的酶^[1]^[2]。组氨酸解氨酶将组氨酸转变为氨与尿刊酸。

功能

组氨酸解氨酶是一种胞质溶胶酶，催化组氨酸代谢过程中的第一步，即L-组氨酸的非氧化脫氨形成反式尿刊酸^[1]。

病理学

编码组氨酸酶的基因的突变与组氨酸血症和尿刊酸尿症两者有关。

深入阅读

Suchi M, Harada N, Wada Y, Takagi Y. Molecular cloning of a cDNA encoding human histidase.. Biochim. Biophys. Acta. 1993, 1216 (2): 293–5. PMID 7916645.
Davila S, Froeling FE, Tan A; et al. New genetic associations detected in a host response study to hepatitis B vaccine.. Genes Immun. 2010, 11 (3): 232–8. PMID 20237496. doi:10.1038/gene.2010.1.
Gerhard DS, Wagner L, Feingold EA; et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 2004, 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
Eckhart L, Schmidt M, Mildner M; et al. Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid.. J. Dermatol. Sci. 2008, 50 (3): 209–15. PMID 18280705. doi:10.1016/j.jdermsci.2007.12.009.
Welsh MM, Karagas MR, Applebaum KM; et al. A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions.. Carcinogenesis. 2008, 29 (10): 1950–4. PMID 18641401. doi:10.1093/carcin/bgn160.
Strausberg RL, Feingold EA, Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.. Proc. Natl. Acad. Sci. U.S.A. 2002, 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
Kawai Y, Moriyama A, Asai K; et al. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.. Hum. Genet. 2005, 116 (5): 340–6. PMID 15806399. doi:10.1007/s00439-004-1232-5.
Taylor RG, García-Heras J, Sadler SJ; et al. Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1.. Cytogenet. Cell Genet. 1991, 56 (3-4): 178–81. PMID 2055114.
Alemán G, Ortíz V, Langley E; et al. Regulation by glucagon of the rat histidase gene promoter in cultured rat hepatocytes and human hepatoblastoma cells.. Am. J. Physiol. Endocrinol. Metab. 2005, 289 (1): E172–9. PMID 15741241. doi:10.1152/ajpendo.00584.2004.

参考文献

^ ^1.0 ^1.1 Entrez Gene: histidine ammonia-lyase. （原始内容存档于2010-03-06）.
^ Suchi M, Sano H, Mizuno H, Wada Y. Molecular cloning and structural characterization of the human histidase gene (HAL). Genomics. September 1995, 29 (1): 98–104. PMID 8530107. doi:10.1006/geno.1995.1219.