HYLS1
| Hydrolethalus syndrome 1 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | HYLS1 ; HLS | ||||||||||
| External IDs | OMIM: 610693 HomoloGene: 82283 GeneCards: HYLS1 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 219844 | 76832 | |||||||||
| Ensembl | ENSG00000198331 | ENSMUSG00000050555 | |||||||||
| UniProt | Q96M11 | Q9CXX0 | |||||||||
| RefSeq (mRNA) | NM_001134793 | NM_029762 | |||||||||
| RefSeq (protein) | NP_001128265 | NP_084038 | |||||||||
| Location (UCSC) |
Chr 11: 125.88 – 125.9 Mb |
Chr 9: 35.56 – 35.57 Mb | |||||||||
| PubMed search | |||||||||||
Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.[1][2]
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.[3]
Clinical significance
Mutations in this gene are associated with hydrolethalus syndrome.[2]
References
- ↑ "Entrez Gene: hydrolethalus syndrome 1".
- 1 2 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. PMID 16169070.
- Rose JE, Behm FM, Drgon T, et al. "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.
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