헤르만스키-푸들락 증후군 4 단백질은 HPS4 [5] [6] [7] 단백질 이다.
헤르만스키 푸들락 증후군은 멜라노좀, 혈소판 밀도 높은 과립, 리소좀의 결함으로 인해 안구피부 알비닌증, 출혈, 폐섬유화가 발생하는 유기체 생성의 장애이다. 이 유전자와 몇몇 다른 유전자의 돌연변이가 이 증후군을 일으킬 수 있다. 이 유전자에 의해 암호화된 단백질은 세포소기관 생성에 중요한 것으로 보이며 생쥐의 '가벼운 귀' 단백질과 유사합니다. 이 유전자에 대해 서로 다른 동질 형태를 코드하는 5개의 전사 변형이 발견되었다. 또한 대체 폴리아데닐화 신호를 이용한 전사 변종이 존재한다.[7]
멜라노사이트 세포에서 HPS4 유전자 발현은 MITF에 [8] 의해 조절될 수 있다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000100099 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000042328 - 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 .^ Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA (Mar 2002). "Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat Genet . 30 (3): 321–4. doi :10.1038/ng835 . PMID 11836498 . S2CID 2470873 . ^ Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA (May 2003). "The Hermansky–Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles" . J Biol Chem . 278 (22): 20332–7. doi :10.1074/jbc.M300090200 PMID 12663659 . ^ a b "Entrez Gene: HPS4 Hermansky–Pudlak syndrome 4" .^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy" . Pigment Cell Melanoma Res . 21 (6): 665–76. doi :10.1111/j.1755-148X.2008.00505.x PMID 19067971 . 외부 링크 추가 정보 Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22" . Nature . 402 (6761): 489–95. doi :10.1038/990031 PMID 10591208 . Hirosawa M, Nagase T, Murahashi Y, et al. (2001). "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping" . DNA Res . 8 (1): 1–9. doi :10.1093/dnares/8.1.1 PMID 11258795 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Collins JE, Goward ME, Cole CG, et al. (2003). "Reevaluating human gene annotation: a second-generation analysis of chromosome 22" . Genome Res . 13 (1): 27–36. doi :10.1101/gr.695703 . PMC 430954 PMID 12529303 . Anderson PD, Huizing M, Claassen DA, et al. (2003). "Hermansky–Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics". Hum. Genet . 113 (1): 10–7. doi :10.1007/s00439-003-0933-5 . PMID 12664304 . S2CID 21758434 . Martina JA, Moriyama K, Bonifacino JS (2003). "BLOC-3, a protein complex containing the Hermansky–Pudlak syndrome gene products HPS1 and HPS4" . J. Biol. Chem . 278 (31): 29376–84. doi :10.1074/jbc.M301294200 PMID 12756248 . Nazarian R, Falcón-Pérez JM, Dell'Angelica EC (2003). "Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4" . Proc. Natl. Acad. Sci. U.S.A . 100 (15): 8770–5. doi :10.1073/pnas.1532040100 PMC 166388 PMID 12847290 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome" . Genome Biol . 5 (10): R84. doi :10.1186/gb-2004-5-10-r84 . PMC 545604 PMID 15461802 . 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. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Huizing M, Parkes JM, Helip-Wooley A, et al. (2007). "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky–Pudlak syndrome" . Platelets . 18 (2): 150–7. doi :10.1080/13576500600936039 . PMID 17365864 . S2CID 32161968 .