HYLS1 (HYLS1 centriolar and ciliogenesis associated)

Gene

• Entrez ID: 219844
• Gene name: HYLS1 centriolar and ciliogenesis associated
• Gene symbol: HYLS1
• Synonyms (NCBI Gene): HLS
• Chromosome: 11
• Chromosome location: 11q24.2
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024355	hsa-miR-215-5p	Microarray	19074876
MIRT026915	hsa-miR-192-5p	Microarray	19074876
MIRT035897	hsa-miR-1303	CLASH	23622248
MIRT1057835	hsa-miR-3120-3p	CLIP-seq
MIRT1057836	hsa-miR-365	CLIP-seq
MIRT1057837	hsa-miR-595	CLIP-seq
MIRT1057838	hsa-miR-603	CLIP-seq
MIRT1057839	hsa-miR-891b	CLIP-seq
MIRT1057840	hsa-miR-3163	CLIP-seq
MIRT1057841	hsa-miR-3662	CLIP-seq
MIRT1057842	hsa-miR-513c	CLIP-seq
MIRT1057843	hsa-miR-514b-5p	CLIP-seq
MIRT2013297	hsa-miR-1267	CLIP-seq
MIRT2013298	hsa-miR-190	CLIP-seq
MIRT2013299	hsa-miR-190b	CLIP-seq
MIRT2013300	hsa-miR-2116	CLIP-seq
MIRT2013301	hsa-miR-3921	CLIP-seq
MIRT2013302	hsa-miR-4273	CLIP-seq
MIRT2013303	hsa-miR-4653-5p	CLIP-seq
MIRT2013304	hsa-miR-4677-5p	CLIP-seq
MIRT2013305	hsa-miR-4768-5p	CLIP-seq
MIRT1057840	hsa-miR-3163	CLIP-seq
MIRT1057841	hsa-miR-3662	CLIP-seq
MIRT2548771	hsa-miR-3689a-5p	CLIP-seq
MIRT2548772	hsa-miR-3689b	CLIP-seq
MIRT2548773	hsa-miR-3689e	CLIP-seq
MIRT2548774	hsa-miR-3689f	CLIP-seq
MIRT2548775	hsa-miR-4496	CLIP-seq
MIRT1057842	hsa-miR-513c	CLIP-seq
MIRT1057843	hsa-miR-514b-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IDA	15843405
GO:0005737	Component	Cytoplasm	IDA	15843405
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	ISS
GO:0097730	Component	Non-motile cilium	IBA

Other IDs

• MIM: 610693
• HGNC: 26558
• e!Ensembl: ENSG00000198331

Protein

• UniProt ID: Q96M11
• Protein name: Centriolar and ciliogenesis-associated protein HYLS1 (Hydrolethalus syndrome protein 1)
• Protein function: Plays a role in ciliogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15311	HYLS1_C	196 → 284	Hydrolethalus syndrome protein 1 C-terminus	Family

• Sequence:

  MEELLPDGQIWANMDPEERMLAAATAFTHICAGQGEGDVRREAQSIQYDPYSKASVAPGK
  RPALPVQLQYPHVESNVPSETVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESES
  GTENDQDLWDLRQRLMNVQFQEDKESSFDVSQKFNLPHEYQGISQDQLICSLQREGMGSP
  AYEQDLIVASRPKSFILPKLDQLSRNRGKTDRVARYFEYKRDWDSIRLPGEDHRKELRWG
  VREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVRCDLANGVIPRKLPFPLSPS

• Sequence length: 299

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Associated diseases

Unknown
Disease merge term	Disease name	Evidence	References	Source
Hydrolethalus Syndrome	hydrolethalus syndrome, hydrolethalus syndrome 1	N/A	N/A	ClinVar, GenCC
Joubert syndrome	Joubert syndrome	N/A	N/A	GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Lung Neoplasms	Associate	37039149