Jump to content

HYLS1: Difference between revisions

From Wikipedia, the free encyclopedia
Browse history interactively
← Previous edit
Content deleted Content added
VisualWikitext
m →Clinical significance: typos, replaced: signficance → significance using AWB (8414)
Added s2cid. Added the cs1 style template to denote Vancouver ("vanc") citation style, because references contain "vauthors" attribute to specify the list of authors.
 
(16 intermediate revisions by 9 users not shown)
Line 1: Line 1:
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{PBB|geneid=219844}}
{{cs1 config|name-list-style=vanc}}
⚫
'''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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=219844| accessdate = }}</ref><ref name="pmid15843405">{{cite journal | author = 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 | year = 2005 | month = June | pmid = 15843405 | doi = 10.1093/hmg/ddi157 | url = | issn = }}</ref>
{{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}}</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 ==
== 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 | author = 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 | year = 2009 | month = September | 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 ==
== Clinical significance ==
Line 15: Line 17:
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal |author=Stelzl U, Worm U, Lalowski M, ''et al.'' |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 }}
*{{cite journal |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 |hdl= 11858/00-001M-0000-0010-8592-0 |s2cid=8235923 |hdl-access= free }}
*{{cite journal |author=Rose JE, Behm FM, Drgon T, ''et al.'' |title=Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. |journal=Mol. Med. |volume=16 |issue= 7-8 |pages= 247–53 |year= |pmid= 20379614 |doi= 10.2119/molmed.2009.00159 |pmc=2896464}}
*{{cite journal |vauthors=Rose JE, Behm FM, Drgon T, etal |title=Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. |journal=Mol. Med. |volume=16 |issue= 7–8 |pages= 247–53 |year= 2010|pmid= 20379614 |doi= 10.2119/molmed.2009.00159 |pmc=2896464}}
*{{cite journal |author=Visapää I, Salonen R, Varilo T, ''et al.'' |title=Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. |journal=Am. J. Hum. Genet. |volume=65 |issue= 4 |pages= 1086–95 |year= 1999 |pmid= 10486328 |doi= 10.1086/302603 }}
*{{cite journal |vauthors=Visapää I, Salonen R, Varilo T |title=Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. |journal=Am. J. Hum. Genet. |volume=65 |issue= 4 |pages= 1086–95 |year= 1999 |pmid= 10486328 |doi= 10.1086/302603 |pmc=1288242|display-authors=etal}}
*{{cite journal |author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
*{{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 |author=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}}
*{{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 |author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 |author=Paetau A, Honkala H, Salonen R, ''et al.'' |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 }}
*{{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}}
{{refend}}


Latest revision as of 12:41, 19 January 2024

HYLS1
Identifiers
AliasesHYLS1, HLS, centriolar and ciliogenesis associated, HYLS1 centriolar and ciliogenesis associated
External IDsOMIM: 610693; MGI: 1924082; HomoloGene: 82283; GeneCards: HYLS1; OMA:HYLS1 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 9: 35.47 – 35.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.[5][6]

Function

[edit]

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

[edit]

Mutations in this gene are associated with hydrolethalus syndrome.[6]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198331 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ "Entrez Gene: hydrolethalus syndrome 1".
  6. ^ 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.
  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.

Further reading

[edit]


Stub icon

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

Retrieved from "https://en.wikipedia.org/w/index.php?title=HYLS1&oldid=1197162067"