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]
^ abMee 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. PMC2751977. PMID 19656802.
Further readingedit
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. PMC2896464. 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. PMC1288242. 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. PMC139241. 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.
This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.
hyls1, hydrolethalus, syndrome, protein, protein, that, humans, encoded, gene, identifiersaliases, centriolar, ciliogenesis, associated, centriolar, ciliogenesis, associatedexternal, idsomim, 610693, 1924082, homologene, 82283, genecards, gene, location, human. Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene 5 6 HYLS1IdentifiersAliasesHYLS1 HLS centriolar and ciliogenesis associated HYLS1 centriolar and ciliogenesis associatedExternal IDsOMIM 610693 MGI 1924082 HomoloGene 82283 GeneCards HYLS1Gene location Human Chr Chromosome 11 human 1 Band11q24 2Start125 883 614 bp 1 End125 900 646 bp 1 Gene location Mouse Chr Chromosome 9 mouse 2 Band9 9 A4Start35 472 116 bp 2 End35 481 694 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inoocytesecondary oocytespermganglionic eminenceprefrontal cortexmiddle temporal gyrusBrodmann area 9cerebellar hemispherestromal cell of endometriumsmooth muscle tissueTop expressed inspermatocyteseminiferous tubulespermatidsecondary oocytehandyolk sacganglionic eminencethymusneural tubefootMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein bindingCellular componentcytoplasm nucleus centrosome plasma membrane cytosol centriole cytoskeleton cilium cell projection non motile cilium microtubule organizing centerBiological processcilium assembly cell projection organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez21984476832EnsemblENSG00000198331ENSMUSG00000050555UniProtQ96M11Q9CXX0RefSeq mRNA NM 001134793NM 145014NM 001377269NM 001377270NM 029762RefSeq protein NP 001128265NP 659451NP 001364198NP 001364199NP 084038Location UCSC Chr 11 125 88 125 9 MbChr 9 35 47 35 48 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further readingFunction editHyls1 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 editMutations in this gene are associated with hydrolethalus syndrome 6 References edit 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 Finnila S Visapaa I Sang TK Jackson GR Salonen R Kestila 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 editStelzl 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 Visapaa 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 nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title HYLS1 amp oldid 1197162067, wikipedia, wiki, book, books, library,
