Jump to content

HYLS1

From Wikipedia, the free encyclopedia

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
Ensembl
UniProt
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: ENSG00000198331Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050555Ensembl, 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]