HYLS1

HYLS1
Identifiers
Aliases HYLS1, HLS, centriolar and ciliogenesis associated
External IDs MGI: 1924082 HomoloGene: 82283 GeneCards: HYLS1
Orthologs
Species Human Mouse
Entrez

219844

76832

Ensembl

ENSG00000198331

ENSMUSG00000050555

UniProt

Q96M11

Q9CXX0

RefSeq (mRNA)

NM_001134793
NM_145014

NM_029762

RefSeq (protein)

NP_001128265.1
NP_659451.1

NP_084038.1

Location (UCSC) Chr 11: 125.88 – 125.9 Mb Chr 9: 35.56 – 35.57 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.[3][4]

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.[5]

Clinical significance

Mutations in this gene are associated with hydrolethalus syndrome.[4]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. "Entrez Gene: hydrolethalus syndrome 1".
  4. 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.
  5. 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 2751977Freely accessible. PMID 19656802.

Further reading


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