HYLS1

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)
End	125,900,646 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	35,481,694 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; sperm; ; ganglionic eminence; ; prefrontal cortex; ; middle temporal gyrus; ; Brodmann area 9; ; cerebellar hemisphere; ; stromal cell of endometrium; ; smooth muscle tissue;
	Top expressed in
	spermatocyte; ; seminiferous tubule; ; spermatid; ; secondary oocyte; ; hand; ; yolk sac; ; ganglionic eminence; ; thymus; ; neural tube; ; foot;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding ;
Cellular component	cytoplasm ; nucleus ; centrosome ; plasma membrane ; cytosol ; centriole ; cytoskeleton ; cilium ; cell projection ; non-motile cilium ; microtubule organizing center ;
Biological process	cilium assembly ; cell projection organization ;
	Sources:Amigo / QuickGO
Orthologs
	219844
	76832
	ENSG00000198331
	ENSMUSG00000050555
	Q96M11
	Q9CXX0
	NM_001134793 ; NM_145014 ; NM_001377269 ; NM_001377270
	NM_029762
	NP_001128265 ; NP_659451 ; NP_001364198 ; NP_001364199
	NP_084038
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 20, 2024

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]

Related Research Articles

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000198331 - Ensembl, May 2017
1 2 3 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".
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.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000198331 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000050555 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: hydrolethalus syndrome 1".

[pmid15843405-6] 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.

[pmid19656802-7] 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.

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HYLS1

Contents

Function

Clinical significance

Related Research Articles

References

Further reading