AKR1C3
AKR1C3
알도-케토 환원효소 패밀리 1 멤버 C3(AKR1C3)는 17β-히드록시스테로이드 탈수소효소 타입 5(17β-HSD5, HSD17B5)로도 알려져 있으며, 인간 내에서는 AKR1C3 유전자에 의해 인코딩되는 핵심 스테로이드 유발 효소다.[5][6][7]
함수
이 유전자는 40개 이상의 알려진 효소와 단백질로 구성된 알도/케토 환원효소 슈퍼 패밀리의 한 구성원을 암호화하고 있다.이러한 효소는 NADH 및/또는 NADPH를 공작용제로 활용하여 알데히드 및 케톤을 해당 알코올로 변환하는 촉매 작용을 한다.효소는 겹치지만 뚜렷한 기질 특이성을 나타낸다.이 효소는 프로스타글란딘 D2, 프로스타글란딘 H2, 페난트렌티니콘의 감소와 프로스타글란딘 F의2α 프로스타글란딘 D로의 산화를2 촉진한다.[7]에스트로겐과 프로게스테론도 대사할 수 있다.[8]
AKR1C3는 천식과 같은 알레르기 질환의 발달에 중요한 역할을 할 수 있으며, 세포 성장 및/또는 분화를 조절하는 역할도 할 수 있다.이 유전자는 다른 세 개의 유전자 구성원과 높은 염기서열 정체성을 공유하고 있으며 10p15-p14 염색체에 있는 세 개의 유전자와 결합되어 있다.[7]
병리학
AKR1C3는 전립선암(PCA)에서 과다압박되며 거세저항성 전립선암(CRPC)의 발병과 관련이 있다.또한 AKR1C3 과다압박은 전립선암 진행을 위한 유망한 바이오마커 역할을 할 수 있다.[9]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000196139 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000021214 - 앙상블, 2017년 5월
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Khanna M, Qin KN, Wang RW, Cheng KC (Aug 1995). "Substrate specificity, gene structure, and tissue-specific distribution of multiple human 3 alpha-hydroxysteroid dehydrogenases". The Journal of Biological Chemistry. 270 (34): 20162–8. doi:10.1074/jbc.270.34.20162. PMID 7650035.
- ^ Matsuura K, Shiraishi H, Hara A, Sato K, Deyashiki Y, Ninomiya M, Sakai S (Nov 1998). "Identification of a principal mRNA species for human 3alpha-hydroxysteroid dehydrogenase isoform (AKR1C3) that exhibits high prostaglandin D2 11-ketoreductase activity". Journal of Biochemistry. 124 (5): 940–6. doi:10.1093/oxfordjournals.jbchem.a022211. PMID 9792917.
- ^ a b c "Entrez Gene: AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)".
- ^ Theisen, J. Graham; Sundaram, Viji; Filchak, Mary S.; Chorich, Lynn P.; Sullivan, Megan E.; Knight, James; Kim, Hyung-Goo; Layman, Lawrence C. (27 December 2019). "The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants". Scientific Reports. 9 (1). Table 4. doi:10.1038/s41598-019-53500-y. PMC 6934803. PMID 31882810.
- ^ Tian Y, Zhao L, Zhang H, Liu X, Zhao L, Zhao X, Li Y, Li J (2014). "AKR1C3 overexpression may serve as a promising biomarker for prostate cancer progression". Diagnostic Pathology. 9 (1): 42. doi:10.1186/1746-1596-9-42. PMC 3939640. PMID 24571686.
외부 링크
- UCSC 게놈 브라우저의 인간 AKR1C3 게놈 위치 및 AKR1C3 유전자 세부 정보 페이지.
추가 읽기
- Lin SX, Shi R, Qiu W, Azzi A, Zhu DW, Dabbagh HA, Zhou M (Mar 2006). "Structural basis of the multispecificity demonstrated by 17beta-hydroxysteroid dehydrogenase types 1 and 5". Molecular and Cellular Endocrinology. 248 (1–2): 38–46. doi:10.1016/j.mce.2005.11.035. PMID 16480815. S2CID 19087697.
- Khanna M, Qin KN, Cheng KC (Jun 1995). "Distribution of 3 alpha-hydroxysteroid dehydrogenase in rat brain and molecular cloning of multiple cDNAs encoding structurally related proteins in humans". The Journal of Steroid Biochemistry and Molecular Biology. 53 (1–6): 41–6. doi:10.1016/0960-0760(95)00019-V. PMID 7626489. S2CID 11316547.
- Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S, Ishikawa K, Kawarabayasi Y, Kotani H (1995). "Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 2 (1): 37–43. doi:10.1093/dnares/2.1.37. PMID 7788527.
- Khanna M, Qin KN, Klisak I, Belkin S, Sparkes RS, Cheng KC (Jan 1995). "Localization of multiple human dihydrodiol dehydrogenase (DDH1 and DDH2) and chlordecone reductase (CHDR) genes in chromosome 10 by the polymerase chain reaction and fluorescence in situ hybridization". Genomics. 25 (2): 588–90. doi:10.1016/0888-7543(95)80066-U. PMID 7789999.
- Qin KN, New MI, Cheng KC (Dec 1993). "Molecular cloning of multiple cDNAs encoding human enzymes structurally related to 3 alpha-hydroxysteroid dehydrogenase". The Journal of Steroid Biochemistry and Molecular Biology. 46 (6): 673–9. doi:10.1016/0960-0760(93)90308-J. PMID 8274401. S2CID 36210133.
- Bennett MJ, Schlegel BP, Jez JM, Penning TM, Lewis M (Aug 1996). "Structure of 3 alpha-hydroxysteroid/dihydrodiol dehydrogenase complexed with NADP+". Biochemistry. 35 (33): 10702–11. doi:10.1021/bi9604688. PMID 8718859.
- Lin HK, Jez JM, Schlegel BP, Peehl DM, Pachter JA, Penning TM (Dec 1997). "Expression and characterization of recombinant type 2 3 alpha-hydroxysteroid dehydrogenase (HSD) from human prostate: demonstration of bifunctional 3 alpha/17 beta-HSD activity and cellular distribution". Molecular Endocrinology. 11 (13): 1971–84. doi:10.1210/me.11.13.1971. PMID 9415401.
- Mills KI, Gilkes AF, Sweeney M, Choudhry MA, Woodgate LJ, Bunce CM, Brown G, Burnett AK (Nov 1998). "Identification of a retinoic acid responsive aldoketoreductase expressed in HL60 leukaemic cells". FEBS Letters. 440 (1–2): 158–62. doi:10.1016/S0014-5793(98)01435-5. PMID 9862446. S2CID 21355070.
- Dufort I, Rheault P, Huang XF, Soucy P, Luu-The V (Feb 1999). "Characteristics of a highly labile human type 5 17beta-hydroxysteroid dehydrogenase". Endocrinology. 140 (2): 568–74. doi:10.1210/en.140.2.568. PMID 9927279.
- Rheault P, Dufort I, Soucy P, Luu-The V (1999). "Assignment of HSD17B5 encoding type 5 17 beta-hydroxysteroid dehydrogenase to human chromosome bands 10p15-->p14 and mouse chromosome 13 region A2 by in situ hybridization: identification of a new syntenic relationship". Cytogenetics and Cell Genetics. 84 (3–4): 241–2. doi:10.1159/000015267. PMID 10393440. S2CID 5792836.
- Griffin LD, Mellon SH (Nov 1999). "Selective serotonin reuptake inhibitors directly alter activity of neurosteroidogenic enzymes". Proceedings of the National Academy of Sciences of the United States of America. 96 (23): 13512–7. doi:10.1073/pnas.96.23.13512. PMC 23979. PMID 10557352.
- Suzuki-Yamamoto T, Nishizawa M, Fukui M, Okuda-Ashitaka E, Nakajima T, Ito S, Watanabe K (Dec 1999). "cDNA cloning, expression and characterization of human prostaglandin F synthase". FEBS Letters. 462 (3): 335–40. doi:10.1016/S0014-5793(99)01551-3. PMID 10622721. S2CID 19812463.
- Nishizawa M, Nakajima T, Yasuda K, Kanzaki H, Sasaguri Y, Watanabe K, Ito S (Feb 2000). "Close kinship of human 20alpha-hydroxysteroid dehydrogenase gene with three aldo-keto reductase genes". Genes to Cells. 5 (2): 111–25. doi:10.1046/j.1365-2443.2000.00310.x. PMID 10672042. S2CID 25136637.
- Penning TM, Burczynski ME, Jez JM, Hung CF, Lin HK, Ma H, Moore M, Palackal N, Ratnam K (Oct 2000). "Human 3alpha-hydroxysteroid dehydrogenase isoforms (AKR1C1-AKR1C4) of the aldo-keto reductase superfamily: functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormones". The Biochemical Journal. 351 (Pt 1): 67–77. doi:10.1042/bj3510067. PMC 1221336. PMID 10998348.
- Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Penning TM, Burczynski ME, Jez JM, Lin HK, Ma H, Moore M, Ratnam K, Palackal N (Jan 2001). "Structure-function aspects and inhibitor design of type 5 17beta-hydroxysteroid dehydrogenase (AKR1C3)". Molecular and Cellular Endocrinology. 171 (1–2): 137–49. doi:10.1016/S0303-7207(00)00426-3. PMID 11165022. S2CID 11599113.
- Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (Sep 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
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