Histidin amonijačna lijaza
Histidin amonijačna lijaza (histidaza, histidinaza) je enzim koji je kod ljudi kodiran HAL genom.[1][2] Histidaza konvertuje histidin u amonijak i urokansku kiselinu.
| 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 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||
| EC broj | 4.3.1.3 | ||||||||
| CAS broj | 9013-75-6 | ||||||||
| Baze podataka | |||||||||
| IntEnz | IntEnz pregled | ||||||||
| BRENDA | BRENDA pristup | ||||||||
| ExPASy | NiceZyme pregled | ||||||||
| KEGG | KEGG pristup | ||||||||
| MetaCyc | metabolički put | ||||||||
| PRIAM | profil | ||||||||
| Strukture PBP | RCSB PDB PDBe PDBj PDBsum | ||||||||
| Ontologija gena | AmiGO / EGO | ||||||||
| |||||||||
Funkcija
уредиHistidin amonijačna lijaza je citosolni enzim koji katalizuje prvu reakciju histidinskog katabolizma, neoksidativnu deaminaciju L-histidina do trans-urokanske kiseline.[1]
Patologija
уредиMutacije ovog gena su vezana za oboljenja histidinemija i urokanska acidurija.
Reference
уреди- ^ а б „Entrez Gene: histidine ammonia-lyase”.
- ^ Suchi M, Sano H, Mizuno H, Wada Y (1995). „Molecular cloning and structural characterization of the human histidase gene (HAL)”. Genomics. 29 (1): 98—104. PMID 8530107. doi:10.1006/geno.1995.1219.
Literatura
уреди- Suchi M, Harada N, Wada Y, Takagi Y (1993). „Molecular cloning of a cDNA encoding human histidase.”. Biochim. Biophys. Acta. 1216 (2): 293—5. PMID 7916645. doi:10.1016/0167-4781(93)90157-9.
- 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. PMID 20237496. doi:10.1038/gene.2010.1.
- 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. PMC 528928
. PMID 15489334. doi:10.1101/gr.2596504. - 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. PMID 18280705. doi:10.1016/j.jdermsci.2007.12.009.
- 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. PMID 18641401. doi:10.1093/carcin/bgn160.
- 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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- 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. PMID 15806399. doi:10.1007/s00439-004-1232-5.
- 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. PMID 2055114. doi:10.1159/000133082. soft hyphen character у
|author2=на позицији 6 (помоћ) - 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. PMID 15741241. doi:10.1152/ajpendo.00584.2004. soft hyphen character у
|author2=на позицији 5 (помоћ) - Nicholas C. Price; Lewis Stevens (1999). Fundamentals of Enzymology: The Cell and Molecular Biology of Catalytic Proteins (Third изд.). USA: Oxford University Press. ISBN 019850229X.
- Eric J. Toone (2006). Advances in Enzymology and Related Areas of Molecular Biology, Protein Evolution (Volume 75 изд.). Wiley-Interscience. ISBN 0471205036.
- Branden C; Tooze J. Introduction to Protein Structure. New York, NY: Garland Publishing. ISBN 0-8153-2305-0.
- Irwin H. Segel. Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State Enzyme Systems (Book 44 изд.). Wiley Classics Library. ISBN 0471303097.
Spoljašnje veze
уреди- Histidine+Ammonia-Lyase на US National Library of Medicine Medical Subject Headings (MeSH)
