• Gene id: 219844

Gene Summary

• Gene Symbol: HYLS1   Gene   UCSC   Ensembl
• Aliases: HLS
• Gene name: HYLS1 centriolar and ciliogenesis associated
• Alternate names: hydrolethalus syndrome protein 1, hydrolethalus syndrome 1,
• Gene location: 11q24.2 (125883613: 125900645)     Exons: 5     NC_000011.10
• Gene summary(Entrez): This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
• OMIM: 610693

Protein Summary

• Protein general information: Q96M11  
  • Name: Hydrolethalus syndrome protein 1
  • Length: 299  
  • Mass: 34359
• Sequence:

  MEELLPDGQIWANMDPEERMLAAATAFTHICAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQYPHVES
  NVPSETVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQFQEDKESSFDV
  SQKFNLPHEYQGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDS
  IRLPGEDHRKELRWGVREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS

• Structural information:
  • Interpro: IPR026227  IPR027918  
  • STRING: ENSP00000414884
• Other Databases: GeneCards:  HYLS1  Malacards:  HYLS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0097730	non-motile cilium	IBA	cellular component
GO:0005814	centriole	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0005929	cilium	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Hydrolethalus syndrome	KEGG:H01265
Hydrolethalus syndrome	KEGG:H01265
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray