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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHY/DEGENERATION AFFECTING THE CEREBELLUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DANDY-WALKER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROLETHALUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrolethalus syndrome	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydrolethalus syndrome 1	Uncertain significance; Benign	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYLS1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	1673491		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	31395040		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30482079		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30482079		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28221213		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	31305380		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Color Blindness, Blue	Color blindness	BEFREE	28403472		★☆☆☆☆ Found in Text Mining only
Congenital absence of diaphragm	Agenesis of the diaphragm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of trachea	Congenital Atresia Of Trachea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	15843405, 18648327, 26830932		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	26830932		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	26830932		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrolethalus	Hydrolethalus Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrolethalus syndrome	Hydrolethalus Syndrome	BEFREE	15843405, 19656802, 26830932, 28411189		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydrolethalus syndrome	Hydrolethalus Syndrome	ORPHANET_DG	15843405, 18648327		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydrolethalus syndrome	Hydrolethalus Syndrome	CLINVAR_DG	15843405, 18648327, 19400947, 2074561		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYDROLETHALUS SYNDROME 1	Hydrolethalus Syndrome	UNIPROT_DG	15843405		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYDROLETHALUS SYNDROME 1	Hydrolethalus Syndrome	GENOMICS_ENGLAND_DG	15843405, 18648327, 26830932		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYDROLETHALUS SYNDROME 1	Hydrolethalus Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYDROLETHALUS SYNDROME 1	Hydrolethalus Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30902699		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Joubert syndrome	Joubert syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	26830932		★☆☆☆☆ Found in Text Mining only
Laryngeal hypoplasia	Laryngeal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37039149	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28221213		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30998604		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1431953		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	1673491		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	31395040		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	1673491		★☆☆☆☆ Found in Text Mining only