아스파스
ASPH
아스파릴/아스파라긴비닐 베타-하이드록실라아제(HAAH)는 인간에서 ASPAS 유전자에 의해 인코딩되는 효소다.[5][6][7]ASPAS는 알파-케토글루타레이트 의존성 하이드록실라아제로서, 해머가 아닌 철분 함유 단백질이다.
함수
이 유전자는 칼슘 동종분해에 중요한 역할을 한다고 생각된다.이 유전자의 대체적 스플라이싱은 단백질 번역, 촉매영역의 부호화, 조직표현에서 다양한 5가지 대본변형을 초래한다.이러한 증상의 변화는 다양한 단백질의 표피 성장 인자 같은 영역에서 아스파라긴산과 아스파라긴의 히드록시뿐만 아니라 내포체와 사르코플라즘 망막의 칼슘 저장 및 방출 과정에서의 역할을 포함하는 기능에 영향을 미친다.[7]
임상적 유의성
1996년에 이르면, HAAH의 과잉 발현이 인간에게 발암을 나타내는 지표로 인식되었다.추가 연구는 HAAH 수치가 높아진 것(환부 조직이나 혈청 내 다양한 것)과 간세포종[8][9](간세포암),[10] 대장암,[11] 전립선암,[9] 폐암과 상관관계를 맺고 있다.[12]췌장 연구는[10] HAAH가 질병에 걸린 조직에서만 상승하는 것을 보여주었지만 인접한 정상 조직과 염증 조직에서는 증가하지 않았다.
ASPAN의 돌연변이는 트라불시 증후군을 일으킨다.[13]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000198363 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000028207 - 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.
- ^ Korioth F, Gieffers C, Frey J (December 1994). "Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase". Gene. 150 (2): 395–9. doi:10.1016/0378-1119(94)90460-X. PMID 7821814.
- ^ Lim KY, Hong CS, Kim DH (September 2000). "cDNA cloning and characterization of human cardiac junctin". Gene. 255 (1): 35–42. doi:10.1016/S0378-1119(00)00299-7. PMID 10974562.
- ^ a b "Entrez Gene: ASPH aspartate beta-hydroxylase".
- ^ Ince N, de la Monte SM, Wands JR (March 2000). "Overexpression of human aspartyl (asparaginyl) beta-hydroxylase is associated with malignant transformation". Cancer Research. 60 (5): 1261–6. PMID 10728685.
- ^ a b Xue T, Xue XP, Huang QS, Wei L, Sun K, Xue T (August 2009). "Monoclonal antibodies against human aspartyl (asparaginyl) beta-hydroxylase developed by DNA immunization". Hybridoma. 28 (4): 251–7. doi:10.1089/hyb.2009.0017. PMID 19663697.
- ^ a b Palumbo KS, Wands JR, Safran H, King T, Carlson RI, de la Monte SM (July 2002). "Human aspartyl (asparaginyl) beta-hydroxylase monoclonal antibodies: potential biomarkers for pancreatic carcinoma". Pancreas. 25 (1): 39–44. doi:10.1097/00006676-200207000-00010. PMID 12131769. S2CID 2098747.
- ^ "CC Detect - Serum-Based Diagnostic Test For Colon Cancer Available".
- ^ Hampton T (November 2007). "New screening techniques show potential for early detection of lung cancer". JAMA. 298 (17): 1997. doi:10.1001/jama.298.17.1997. PMID 17986689.
- ^ Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, et al. (May 2014). "Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome". American Journal of Human Genetics. 94 (5): 755–9. doi:10.1016/j.ajhg.2014.04.002. PMC 4067561. PMID 24768550.
외부 링크
- UCSC 게놈 브라우저의 인간 ASPAN 게놈 위치 및 ASPAN 유전자 세부 정보 페이지.
- PDB의 UniProt: Q12797(PDBe-KB에서 Aspartyl/asparagi닐 베타-hydroxylase)에 대한 모든 구조 정보 개요.
추가 읽기
- Hirota K, Semenza GL (December 2005). "Regulation of hypoxia-inducible factor 1 by prolyl and asparaginyl hydroxylases". Biochemical and Biophysical Research Communications. 338 (1): 610–6. doi:10.1016/j.bbrc.2005.08.193. PMID 16154531.
- Lavaissiere L, Jia S, Nishiyama M, de la Monte S, Stern AM, Wands JR, Friedman PA (September 1996). "Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma". The Journal of Clinical Investigation. 98 (6): 1313–23. doi:10.1172/JCI118918. PMC 507557. PMID 8823296.
- Zhang L, Kelley J, Schmeisser G, Kobayashi YM, Jones LR (September 1997). "Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane". The Journal of Biological Chemistry. 272 (37): 23389–97. doi:10.1074/jbc.272.37.23389. PMID 9287354.
- Wetzel GT, Ding S, Chen F (March 2000). "Molecular cloning of junctin from human and developing rabbit heart". Molecular Genetics and Metabolism. 69 (3): 252–8. doi:10.1006/mgme.2000.2966. PMID 10767180.
- Dinchuk JE, Henderson NL, Burn TC, Huber R, Ho SP, Link J, et al. (December 2000). "Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin". The Journal of Biological Chemistry. 275 (50): 39543–54. doi:10.1074/jbc.M006753200. PMID 10956665.
- Treves S, Feriotto G, Moccagatta L, Gambari R, Zorzato F (December 2000). "Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane". The Journal of Biological Chemistry. 275 (50): 39555–68. doi:10.1074/jbc.M005473200. PMID 11007777.
- Kirchhefer U, Neumann J, Baba HA, Begrow F, Kobayashi YM, Reinke U, et al. (February 2001). "Cardiac hypertrophy and impaired relaxation in transgenic mice overexpressing triadin 1". The Journal of Biological Chemistry. 276 (6): 4142–9. doi:10.1074/jbc.M006443200. PMID 11069905.
- Sepe PS, Lahousse SA, Gemelli B, Chang H, Maeda T, Wands JR, de la Monte SM (July 2002). "Role of the aspartyl-asparaginyl-beta-hydroxylase gene in neuroblastoma cell motility". Laboratory Investigation; A Journal of Technical Methods and Pathology. 82 (7): 881–91. doi:10.1097/01.lab.0000020406.91689.7f. PMID 12118090.
- Ho SP, Scully MS, Krauthauser CM, Wexler EJ, Stow MD, Dinchuk JE, et al. (August 2002). "Antisense oligonucleotides selectively regulate aspartyl beta-hydroxylase and its truncated protein isoform in vitro but distribute poorly into A549 tumors in vivo". The Journal of Pharmacology and Experimental Therapeutics. 302 (2): 795–803. doi:10.1124/jpet.302.2.795. PMID 12130746.
- Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Maeda T, Sepe P, Lahousse S, Tamaki S, Enjoji M, Wands JR, de la Monte SM (May 2003). "Antisense oligodeoxynucleotides directed against aspartyl (asparaginyl) beta-hydroxylase suppress migration of cholangiocarcinoma cells". Journal of Hepatology. 38 (5): 615–22. doi:10.1016/S0168-8278(03)00052-7. PMID 12713872.
- Treves S, Franzini-Armstrong C, Moccagatta L, Arnoult C, Grasso C, Schrum A, et al. (August 2004). "Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion". The Journal of Cell Biology. 166 (4): 537–48. doi:10.1083/jcb.200404079. PMC 1868564. PMID 15302852.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Xian ZH, Zhang SH, Cong WM, Yan HX, Wang K, Wu MC (February 2006). "Expression of aspartyl beta-hydroxylase and its clinicopathological significance in hepatocellular carcinoma". Modern Pathology. 19 (2): 280–6. doi:10.1038/modpathol.3800530. PMID 16341145.
- de la Monte SM, Tamaki S, Cantarini MC, Ince N, Wiedmann M, Carter JJ, et al. (May 2006). "Aspartyl-(asparaginyl)-beta-hydroxylase regulates hepatocellular carcinoma invasiveness". Journal of Hepatology. 44 (5): 971–83. doi:10.1016/j.jhep.2006.01.038. PMID 16564107.
- Feldmann G, Nattermann J, Nischalke HD, Gorschlüter M, Kuntzen T, Ahlenstiel G, et al. (June 2006). "Detection of human aspartyl (asparaginyl) beta-hydroxylase and homeobox B7 mRNA in brush cytology specimens from patients with bile duct cancer". Endoscopy. 38 (6): 604–9. doi:10.1055/s-2006-925065. PMID 16673309.
- Gundogan F, Elwood G, Greco D, Rubin LP, Pinar H, Carlson RI, et al. (January 2007). "Role of aspartyl-(asparaginyl) beta-hydroxylase in placental implantation: Relevance to early pregnancy loss". Human Pathology. 38 (1): 50–9. doi:10.1016/j.humpath.2006.06.005. PMID 16949909.
