HYLS1: Difference between revisions

HYLS1
Identifiers
Aliases	HYLS1, HLS, centriolar and ciliogenesis associated, HYLS1 centriolar and ciliogenesis associated
External IDs	OMIM: 610693; MGI: 1924082; HomoloGene: 82283; GeneCards: HYLS1; OMA:HYLS1 - orthologs
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; ; gonad; ; testicle; ; right testis; ; left testis; ; ventricular zone; ; mucosa of ileum; ; ganglionic eminence;
	Top expressed in
	spermatocyte; ; seminiferous tubule; ; zygote; ; spermatid; ; secondary oocyte; ; hand; ; genital tubercle; ; ventricular zone; ; tail of embryo; ; primary oocyte;
	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

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Latest revision as of 12:41, 19 January 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]

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.

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.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

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

[refGRCm38Ensembl-2] 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] 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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@@ Line 1: / Line 1: @@
+{{Short description|Protein-coding gene in the species Homo sapiens}}
+{{cs1 config|name-list-style=vanc}}
 {{Infobox_gene}}
-'''Hydrolethalus syndrome protein 1''' is a [[protein]] that in humans is encoded by the ''HYLS1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: hydrolethalus syndrome 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=219844| accessdate = }}</ref><ref name="pmid15843405">{{cite journal |vauthors=Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L | title = Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 | journal = Hum. Mol. Genet. | volume = 14 | issue = 11 | pages = 1475–88 |date=June 2005 | pmid = 15843405 | doi = 10.1093/hmg/ddi157 | url = | issn = }}</ref>
+'''Hydrolethalus syndrome protein 1''' is a [[protein]] that in humans is encoded by the ''HYLS1'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: hydrolethalus syndrome 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=219844}}</ref><ref name="pmid15843405">{{cite journal |vauthors=Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L | title = Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 | journal = Hum. Mol. Genet. | volume = 14 | issue = 11 | pages = 1475–88 |date=June 2005 | pmid = 15843405 | doi = 10.1093/hmg/ddi157 | doi-access = free }}</ref>
 == Function ==
-Hyls1 is incorporated into [[centriole]]s as they are formed but is not required for centriole assembly.  However Hyls1 is required for the formation of [[cilia]].<ref name="pmid19656802">{{cite journal |vauthors=Dammermann A, Pemble H, Mitchell BJ, McLeod I, Yates JR, Kintner C, Desai AB, Oegema K | title = The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation | journal = Genes Dev. | volume = 23 | issue = 17 | pages = 2046–59 |date=September 2009 | pmid = 19656802 | pmc = 2751977 | doi = 10.1101/gad.1810409 | url = | issn = }}</ref>
+Hyls1 is incorporated into [[centriole]]s as they are formed but is not required for centriole assembly.  However Hyls1 is required for the formation of [[cilia]].<ref name="pmid19656802">{{cite journal |vauthors=Dammermann A, Pemble H, Mitchell BJ, McLeod I, Yates JR, Kintner C, Desai AB, Oegema K | title = The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation | journal = Genes Dev. | volume = 23 | issue = 17 | pages = 2046–59 |date=September 2009 | pmid = 19656802 | pmc = 2751977 | doi = 10.1101/gad.1810409 }}</ref>
 == Clinical significance ==
@@ Line 20: / Line 22: @@
 *{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
 *{{cite journal  |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1996 |pmid= 8889548 |doi=  10.1101/gr.6.9.791|doi-access=free }}
-*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241}}
+*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|bibcode=2002PNAS...9916899M |doi-access=free }}
-*{{cite journal   |vauthors=Paetau A, Honkala H, Salonen R, etal |title=Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. |journal=J. Neuropathol. Exp. Neurol. |volume=67 |issue= 8 |pages= 750–62 |year= 2008 |pmid= 18648327 |doi= 10.1097/NEN.0b013e318180ec2e |doi-access= free }}
+*{{cite journal   |vauthors=Paetau A, Honkala H, Salonen R, etal |title=Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. |journal=J. Neuropathol. Exp. Neurol. |volume=67 |issue= 8 |pages= 750–62 |year= 2008 |pmid= 18648327 |doi= 10.1097/NEN.0b013e318180ec2e |doi-access=  |s2cid=12872658 }}
 {{refend}}

Latest revision as of 12:41, 19 January 2024

Function

Clinical significance

References

Further reading