HYLS1

Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.[4][5]

HYLS1
Identifiers
Aliases	HYLS1, HLS, centriolar and ciliogenesis associated, HYLS1 centriolar and ciliogenesis associated
External IDs	OMIM: 610693 MGI: 1924082 HomoloGene: 82283 GeneCards: HYLS1
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q24.2 Start 125,883,614 bp[1] End 125,900,648 bp[1]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • cell nucleus • centrosome • cell membrane • cytosol • centriole • cytoskeleton • cilium • cell projection • non-motile cilium • microtubule organizing center Biological process • cilium morphogenesis • cell projection organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	219844	76832
Ensembl	ENSG00000198331	ENSMUSG00000050555
UniProt	Q96M11	Q9CXX0
RefSeq (mRNA)	NM_001134793 NM_145014 NM_001377269 NM_001377270	NM_029762
RefSeq (protein)	NP_001128265 NP_659451 NP_001364198 NP_001364199	NP_084038
Location (UCSC)	Chr 11: 125.88 – 125.9 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

Clinical significance

Mutations in this gene are associated with hydrolethalus syndrome.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000198331 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Entrez Gene: hydrolethalus syndrome 1".
5. 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.
6. 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. 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.