S Wikipedije, slobodne enciklopedije
Protrin 1 hidroletalusnog sindroma je protein koji je kod ljudi kodiran genom HYLS1 .[ 5] [ 6]
Dužina polipeptidnog lanca je 299 aminokiselina , a molekulska težina 34.359 Da .[ 7]
10 20 30 40 50 MEELLPDGQI WANMDPEERM LAAATAFTHI CAGQGEGDVR REAQSIQYDP YSKASVAPGK RPALPVQLQY PHVESNVPSE TVSEASQRLR KPVMKRKVLR RKPDGEVLVT DESIISESES GTENDQDLWD LRQRLMNVQF QEDKESSFDV SQKFNLPHEY QGISQDQLIC SLQREGMGSP AYEQDLIVAS RPKSFILPKL DQLSRNRGKT DRVARYFEYK RDWDSIRLPG EDHRKELRWG VREQMLCRAE PQSKPQHIYV PNNYLVPTEK KRSALRWGVR CDLANGVIPR KLPFPLSPS
Hyls1 je ugrađen u centriole dok se formiraju, ali nije potreban za njihovo sastavljanje. Međutim, potreban je za formiranje cilija .[ 8]
Mutacije u ovom genu povezane su sa hidroletalusnim sindromom .[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000198331 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050555 - Ensembl , maj 2017^ "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: hydrolethalus syndrome 1" .^ a b Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L (juni 2005). "Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1". Hum. Mol. Genet . 14 (11): 1475–88. doi :10.1093/hmg/ddi157 . PMID 15843405 . ^ "UniProt, Q96M11" . Pristupljeno 23. 8. 2021 .^ Dammermann A, Pemble H, Mitchell BJ, McLeod I, Yates JR, Kintner C, Desai AB, Oegema K (septembar 2009). "The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation" . Genes Dev . 23 (17): 2046–59. doi :10.1101/gad.1810409 . PMC 2751977 PMID 19656802 .
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell . 122 (6): 957–68. doi :10.1016/j.cell.2005.08.029 . hdl :11858/00-001M-0000-0010-8592-0 PMID 16169070 . S2CID 8235923 . Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score" . Mol. Med . 16 (7–8): 247–53. doi :10.2119/molmed.2009.00159 . PMC 2896464 PMID 20379614 . Visapää I, Salonen R, Varilo T, et al. (1999). "Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25" . Am. J. Hum. Genet . 65 (4): 1086–95. doi :10.1086/302603 . PMC 1288242 PMID 10486328 . 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 . Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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 . Paetau A, Honkala H, Salonen R, et al. (2008). "Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis" . J. Neuropathol. Exp. Neurol . 67 (8): 750–62. doi :10.1097/NEN.0b013e318180ec2e PMID 18648327 . 
