Protein-coding gene in the species Homo sapiens
Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene .[5] [6]
Function Hyls1 is incorporated into centrioles as they are formed but is not required for centriole assembly. However Hyls1 is required for the formation of cilia .[7]
Clinical significance Mutations in this gene are associated with hydrolethalus syndrome .[6]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000198331 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050555 – Ensembl , May 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 (June 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 . ^ Dammermann A, Pemble H, Mitchell BJ, McLeod I, Yates JR, Kintner C, Desai AB, Oegema K (September 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 .
Further reading
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. Bibcode :2002PNAS...9916899M . 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 . S2CID 12872658 .
