HSD3B1

HSD3B1
식별자
별칭	HSD3B1, 3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1, 히드록시-델타-5-스테로이드 탈수소효소, 3 베타 및 스테로이드 델타-이소머레이즈 1
외부 ID	OMIM: 109715 MGI: 109598 HomoloGene: 133013 GeneCard: HSD3B1
유전자 위치(인간)
쳇.	염색체 1 (인간)
끝	119,515,054 bp
유전자 위치(마우스)
쳇.	3번 염색체(쥐)
끝	98,814,443 bp
RNA 표현 패턴
	표현된 상단
	외음부; ; 피부 영역;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	NAD 또는 NADP를 수용자로 하는 CH-OH 기증자 그룹에 작용하는 산화효소 활동; 이소메라제 활동; 촉매 활성; 산화효소 활성; 스테로이드 델타 이소머레이즈 활성; 3-제곱시-제곱시-제5-스테로이드 탈수소효소 활성; 콜레스테롤 탈수소효소 활성; 3-케토 스테롤 환원효소 활동; 5alpha-안드로스테인-3beta,17beta-다이올 탈수소효소 활성;
셀룰러 컴포넌트	막의 적분 성분; 막으로 막다; 미토콘드리아 막; 미토콘드리아 간 공간; 매끄러운 말단경막; 소포체성 망막; 미토콘드리온; 미토콘드리아 내막; 소포체 망막; 세포내 막으로 둘러싸인 오르가넬;
생물학적 과정	에스트로겐 생합성 과정; 안드로겐 생합성 과정; 글루코코르티코이드 생합성 과정; 광물코르티코이드 생합성 과정; 신진대사를 하다; 스테로이드 생합성 과정; C21-스테로이드 호르몬 대사 과정; 해마 개발; 코르티코스테론에 대한 반응; 지질 대사; 스테로이드 대사 과정;
	출처:아미고 / 퀵고
직교체
	3283
	15497
	ENSG00000203857
	ENSMUSG00000027869
	P14060
	O35469
	NM_000862; NM_001328615
	NM_013821
	NP_000853; NP_001315544
	NP_038849
	위키다타
인간 보기/편집	마우스 보기/편집

HSD3B1은 3베타-히드록시스테로이드 탈수소효소/델타(5)-델타(4)이소머라제 I형 또는 히드록시-델타-5-스테로이드 탈수소효소, 3베타 및 스테로이드 델타-이소메라아제 1을 암호화하는 인간 유전자다.^[5]HSD3B2와 같은 기능을 수행할 수 있지만, 주로 태반이나 비스테로이드 유발 조직과 같은 다른 조직에 위치한다.임신에 중요한 역할을 하는 태반에 의한 프로게스테론 생산 요건은 전립선암 외에 현재까지 이 유전자의 돌연변이에 기초한 질병이 확인되지 않은 한 가지 이유일 수 있다.null

임상적 유의성

1245C는 전립선암에서 안드로겐 결핍 치료 후 더 나쁜 결과와 연관이 있는 실수와 과잉활성 효소를 위해 인코딩된다.^[6]^[7]null

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000203857 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000027869 - 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.
^ "Entrez Gene: HSD3B1 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1".
^ Taneja SS (January 2017). "Re: HSD3B1 and Resistance to Androgen-Deprivation Therapy in Prostate Cancer: A Retrospective, Multicohort Study". The Journal of Urology. 197 (1): 150. doi:10.1016/j.juro.2016.10.045. PMID 27979506.
^ Hearn, Jason (October 2016). "HSD3B1 and resistance to androgen-deprivation therapy in prostate cancer: a retrospective, multicohort study". Lancet Oncology. 17 (10): 1435–1444. doi:10.1016/S1470-2045(16)30227-3. PMC 5135009. PMID 27575027.

^[1]

추가 읽기

Dumont M, Luu-The V, Dupont E, Pelletier G, Labrie F (October 1992). "Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin". The Journal of Investigative Dermatology. 99 (4): 415–21. doi:10.1111/1523-1747.ep12616131. PMID 1401999.
Russell AJ, Gaffney D, Gardiner MT, Nickson DA, Sutcliffe RG (March 1991). "Synonymous polymorphism in the coding sequence of human 3-beta hydroxysteroid-5-ene dehydrogenase (HSD)". Nucleic Acids Research. 19 (5): 1172. doi:10.1093/nar/19.5.1172-a. PMC 333834. PMID 1673569.
Lachance Y, Luu-The V, Labrie C, Simard J, Dumont M, de Launoit Y, Guérin S, Leblanc G, Labrie F (February 1992). "Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells". The Journal of Biological Chemistry. 267 (5): 3551. doi:10.1016/S0021-9258(19)50764-5. PMID 1737804.
Nickson DA, McBride MW, Zeinali S, Hawes CS, Petropoulos A, Mueller UW, Sutcliffe RG (September 1991). "Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase". Journal of Reproduction and Fertility. 93 (1): 149–56. doi:10.1530/jrf.0.0930149. PMID 1920284.
Rhéaume E, Lachance Y, Zhao HF, Breton N, Dumont M, de Launoit Y, Trudel C, Luu-The V, Simard J, Labrie F (August 1991). "Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads". Molecular Endocrinology. 5 (8): 1147–57. doi:10.1210/mend-5-8-1147. PMID 1944309.
Morrison N, Nickson DA, McBride MW, Mueller UW, Boyd E, Sutcliffe RG (June 1991). "Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation". Human Genetics. 87 (2): 223–5. doi:10.1007/BF00204189. PMID 2066113. S2CID 38702281.
Lorence MC, Corbin CJ, Kamimura N, Mahendroo MS, Mason JI (December 1990). "Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase". Molecular Endocrinology. 4 (12): 1850–5. doi:10.1210/mend-4-12-1850. PMID 2082186.
Lorence MC, Murry BA, Trant JM, Mason JI (May 1990). "Human 3 beta-hydroxysteroid dehydrogenase/delta 5----4isomerase from placenta: expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids". Endocrinology. 126 (5): 2493–8. doi:10.1210/endo-126-5-2493. PMID 2139411.
Lachance Y, Luu-The V, Labrie C, Simard J, Dumont M, de Launoit Y, Guérin S, Leblanc G, Labrie F (November 1990). "Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells". The Journal of Biological Chemistry. 265 (33): 20469–75. doi:10.1016/S0021-9258(17)30528-8. PMID 2243100.
Luu The V, Lachance Y, Labrie C, Leblanc G, Thomas JL, Strickler RC, Labrie F (August 1989). "Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase". Molecular Endocrinology. 3 (8): 1310–2. doi:10.1210/mend-3-8-1310. PMID 2779585.
Thomas JL, Frieden C, Nash WE, Strickler RC (September 1995). "An NADH-induced conformational change that mediates the sequential 3 beta-hydroxysteroid dehydrogenase/isomerase activities is supported by affinity labeling and the time-dependent activation of isomerase". The Journal of Biological Chemistry. 270 (36): 21003–8. doi:10.1074/jbc.270.36.21003. PMID 7673125.
Alvarez CI, Genti-Raimondi S, Patrito LC, Flury A (July 1994). "Topography of human placental 3 beta-hydroxysteroid dehydrogenase/delta 5-4 isomerase in microsomal membrane. A study using limited proteolysis and immunoblotting". Biochimica et Biophysica Acta. 1207 (1): 102–8. doi:10.1016/0167-4838(94)90057-4. PMID 8043598.
Cherradi N, Defaye G, Chambaz EM (December 1993). "Dual subcellular localization of the 3 beta-hydroxysteroid dehydrogenase isomerase: characterization of the mitochondrial enzyme in the bovine adrenal cortex". The Journal of Steroid Biochemistry and Molecular Biology. 46 (6): 773–9. doi:10.1016/0960-0760(93)90318-Q. PMID 8274411. S2CID 29330476.
Hatakeyama H, Miyamori I, Takeda Y, Yamamoto H, Mabuchi H (October 1996). "The expression of steroidogenic enzyme genes in human vascular cells". Biochemistry and Molecular Biology International. 40 (3): 639–45. doi:10.1080/15216549600201233. PMID 8908375. S2CID 26317546.
El-Alfy M, Luu-The V, Huang XF, Berger L, Labrie F, Pelletier G (March 1999). "Localization of type 5 17beta-hydroxysteroid dehydrogenase, 3beta-hydroxysteroid dehydrogenase, and androgen receptor in the human prostate by in situ hybridization and immunocytochemistry". Endocrinology. 140 (3): 1481–91. doi:10.1210/en.140.3.1481. PMID 10067877.
Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES (July 1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nature Genetics. 22 (3): 231–8. doi:10.1038/10290. PMID 10391209. S2CID 195213008.
Bonenfant M, Provost PR, Drolet R, Tremblay Y (May 2000). "Localization of type 1 17beta-hydroxysteroid dehydrogenase mRNA and protein in syncytiotrophoblasts and invasive cytotrophoblasts in the human term villi". The Journal of Endocrinology. 165 (2): 217–22. doi:10.1677/joe.0.1650217. PMID 10810285.
Pelletier G, Luu-The V, El-Alfy M, Li S, Labrie F (February 2001). "Immunoelectron microscopic localization of 3beta-hydroxysteroid dehydrogenase and type 5 17beta-hydroxysteroid dehydrogenase in the human prostate and mammary gland". Journal of Molecular Endocrinology. 26 (1): 11–9. doi:10.1677/jme.0.0260011. PMID 11174850.
Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie AF, Smillie KJ, Mason JI (June 2002). "A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia". The Journal of Clinical Endocrinology and Metabolism. 87 (6): 2556–63. doi:10.1210/jc.87.6.2556. PMID 12050213.
Rosmond R, Chagnon M, Bouchard C, Björntorp P (April 2002). "Polymorphism in exon 4 of the human 3 beta-hydroxysteroid dehydrogenase type I gene (HSD3B1) and blood pressure". Biochemical and Biophysical Research Communications. 293 (1): 629–32. doi:10.1016/S0006-291X(02)00234-6. PMID 12054649.

인간 염색체 1번 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

^ Chang, Kai-Hsiung (August 2013). "A gain-of-function mutation in DHT synthesis in castration-resistant prostate cancer". Cell. 154 (5): 1074–1084. doi:10.1016/j.cell.2013.07.029. PMC 3931012. PMID 23993097.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000203857 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000027869 - 앙상블, 2017년 5월

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "Entrez Gene: HSD3B1 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1".

[pmid27979506-6] Taneja SS (January 2017). "Re: HSD3B1 and Resistance to Androgen-Deprivation Therapy in Prostate Cancer: A Retrospective, Multicohort Study". The Journal of Urology. 197 (1): 150. doi:10.1016/j.juro.2016.10.045. PMID 27979506.

[7] Hearn, Jason (October 2016). "HSD3B1 and resistance to androgen-deprivation therapy in prostate cancer: a retrospective, multicohort study". Lancet Oncology. 17 (10): 1435–1444. doi:10.1016/S1470-2045(16)30227-3. PMC 5135009. PMID 27575027.

[8] Chang, Kai-Hsiung (August 2013). "A gain-of-function mutation in DHT synthesis in castration-resistant prostate cancer". Cell. 154 (5): 1074–1084. doi:10.1016/j.cell.2013.07.029. PMC 3931012. PMID 23993097.

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HSD3B1

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