Histidin amonijačna lijaza
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| Histidin amonijačna lijaza | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | HAL; HIS; HSTD | ||||||||||
| Vanjski ID | OMIM: 609457 MGI: 96010 HomoloGene: 68229 GeneCards: HAL Gene | ||||||||||
| EC broj | 4.3.1.3 | ||||||||||
| |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 3034 | 15109 | |||||||||
| Ensembl | ENSG00000084110 | ENSMUSG00000020017 | |||||||||
| UniProt | P42357 | P35492 | |||||||||
| RefSeq (mRNA) | NM_001258333.1 | NM_010401.3 | |||||||||
| RefSeq (protein) | NP_001245262.1 | NP_034531.1 | |||||||||
| Lokacija (UCSC) | Chr 12: 96.37 - 96.39 Mb | Chr 10: 93.49 - 93.52 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
| Histidin amonijačna lijaza | |||||||||
|---|---|---|---|---|---|---|---|---|---|
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| Histidin amonijačna lijaza tetramer, Pseudomonas putida | |||||||||
| Identifikatori | |||||||||
| EC broj | 4.3.1.3 | ||||||||
| CAS broj | 9013-75-6 | ||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB | RCSB PDB PDBe PDBj PDBsum | ||||||||
| Ontologija gena | AmiGO / EGO | ||||||||
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Histidin amonijačna lijaza (histidaza, histidinaza) je enzim koji je kod ljudi kodiran HAL genom.[1][2] Histidaza konvertuje histidin u amonijak i urokansku kiselinu.
Funkcija[uredi | uredi kod]
Histidin amonijačna lijaza je citosolni enzim koji katalizuje prvu reakciju histidinskog katabolizma, neoksidativnu deaminaciju L-histidina do trans-urokanske kiseline.[1]
Patologija[uredi | uredi kod]
Mutacije ovog gena su vezana za oboljenja histidinemija i urokanska acidurija.
Reference[uredi | uredi kod]
- ↑ 1,0 1,1 „Entrez Gene: histidine ammonia-lyase”.
- ↑ Suchi M, Sano H, Mizuno H, Wada Y (September 1995). „Molecular cloning and structural characterization of the human histidase gene (HAL)”. Genomics 29 (1): 98–104. DOI:10.1006/geno.1995.1219. PMID 8530107.
Literatura[uredi | uredi kod]
- Suchi M, Harada N, Wada Y, Takagi Y (1993). „Molecular cloning of a cDNA encoding human histidase.”. Biochim. Biophys. Acta 1216 (2): 293–5. DOI:10.1016/0167-4781(93)90157-9. PMID 7916645.
- Davila S, Froeling FE, Tan A, et al. (2010). „New genetic associations detected in a host response study to hepatitis B vaccine.”. Genes Immun. 11 (3): 232–8. DOI:10.1038/gene.2010.1. PMID 20237496.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). „The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”. Genome Res. 14 (10B): 2121–7. DOI:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Eckhart L, Schmidt M, Mildner M, et al. (2008). „Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid.”. J. Dermatol. Sci. 50 (3): 209–15. DOI:10.1016/j.jdermsci.2007.12.009. PMID 18280705.
- Welsh MM, Karagas MR, Applebaum KM, et al. (2008). „A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions.”. Carcinogenesis 29 (10): 1950–4. DOI:10.1093/carcin/bgn160. PMID 18641401.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). „Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kawai Y, Moriyama A, Asai K, et al. (2005). „Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.”. Hum. Genet. 116 (5): 340–6. DOI:10.1007/s00439-004-1232-5. PMID 15806399.
- Taylor RG, García-Heras J, Sadler SJ, et al. (1991). „Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1.”. Cytogenet. Cell Genet. 56 (3-4): 178–81. DOI:10.1159/000133082. PMID 2055114.
- Alemán G, Ortíz V, Langley E, et al. (2005). „Regulation by glucagon of the rat histidase gene promoter in cultured rat hepatocytes and human hepatoblastoma cells.”. Am. J. Physiol. Endocrinol. Metab. 289 (1): E172-9. DOI:10.1152/ajpendo.00584.2004. PMID 15741241.