호모 사피엔스에서 발견되는 포유류의 단백질
Geranylgeranyl pyrophosphate 합성효소는 사람에게 GGPS1 [5] [6] [7] 효소 이다.
기능. 이 유전자는 프레닐전달효소 계열의 일원으로 제라닐게라닐이인산(GPP) 합성효소 활성을 가진 단백질을 암호화한다. 이 효소는 파르네실 이인산 과 이소펜테닐 이인산 으로부터 GGPP 의 합성을 촉매한다. GGPP는 단백질의 C20-프레닐화와 핵호르몬 수용체 조절에 관여하는 중요한 분자이다. 다른 Isoform을 인코딩하는 대체 전사 스플라이스 변형이 [7]
호몰로그 파르네실2인산합성효소처럼 GGPS1은 비스포스포네이트 [8]
임상 이 유전자의 두 복사본의 돌연변이는 근위축증, 청력 손실,[9]
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000152904 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000021302 - 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 .^ Ericsson J, Greene JM, Carter KC, Shell BK, Duan DR, Florence C, Edwards PA (September 1998). "Human geranylgeranyl diphosphate synthase: isolation of the cDNA, chromosomal mapping and tissue expression" . Journal of Lipid Research . 39 (9): 1731–9. doi :10.1016/S0022-2275(20)32159-3 PMID 9741684 . ^ Kainou T, Kawamura K, Tanaka K, Matsuda H, Kawamukai M (March 1999). "Identification of the GGPS1 genes encoding geranylgeranyl diphosphate synthases from mouse and human". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids . 1437 (3): 333–40. doi :10.1016/S1388-1981(99)00028-1 . PMID 10101267 . ^ a b "Entrez Gene: GGPS1 geranylgeranyl diphosphate synthase 1" .^ Wiemer AJ, Wiemer DF, Hohl RJ (December 2011). "Geranylgeranyl diphosphate synthase: an emerging therapeutic target". Clinical Pharmacology and Therapeutics . 90 (6): 804–12. doi :10.1038/clpt.2011.215 . PMID 22048229 . S2CID 27913789 . ^ Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dast Jir, Dille Me. Mann CG(2020) GGPS1 돌연변이는 근위축증/발열손실/비안기능부전증후군을 일으킨다. 앤 뉴롤 추가 정보 Ericsson J, Runquist M, Thelin A, Andersson M, Chojnacki T, Dallner G (January 1993). "Distribution of prenyltransferases in rat tissues. Evidence for a cytosolic all-trans-geranylgeranyl diphosphate synthase" . The Journal of Biological Chemistry . 268 (2): 832–8. doi :10.1016/S0021-9258(18)54009-6 PMID 8419360 . Kuzuguchi T, Morita Y, Sagami I, Sagami H, Ogura K (February 1999). "Human geranylgeranyl diphosphate synthase. cDNA cloning and expression" . The Journal of Biological Chemistry . 274 (9): 5888–94. doi :10.1074/jbc.274.9.5888 PMID 10026212 . Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL (August 2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning" . Proceedings of the National Academy of Sciences of the United States of America . 97 (17): 9543–8. Bibcode :2000PNAS...97.9543H . doi :10.1073/pnas.160270997 PMC 16901 PMID 10931946 . Bommel H, Xie G, Rossoll W, Wiese S, Jablonka S, Boehm T, Sendtner M (November 2002). "Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease" . The Journal of Cell Biology . 159 (4): 563–9. doi :10.1083/jcb.200208001 . PMC 2173089 PMID 12446740 . Kavanagh KL, Dunford JE, Bunkoczi G, Russell RG, Oppermann U (August 2006). "The crystal structure of human geranylgeranyl pyrophosphate synthase reveals a novel hexameric arrangement and inhibitory product binding" . The Journal of Biological Chemistry . 281 (31): 22004–12. doi :10.1074/jbc.M602603200 PMID 16698791 . Ma J, Dempsey AA, Stamatiou D, Marshall KW, Liew CC (March 2007). "Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects". Atherosclerosis . 191 (1): 63–72. doi :10.1016/j.atherosclerosis.2006.05.032 . PMID 16806233 . Raz T, Nardi V, Azam M, Cortes J, Daley GQ (September 2007). "Farnesyl transferase inhibitor resistance probed by target mutagenesis" . Blood . 110 (6): 2102–9. doi :10.1182/blood-2006-12-064907 . PMC 1976354 PMID 17536018 .
