Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	219844
Gene name Gene Name - the full gene name approved by the HGNC.	HYLS1 centriolar and ciliogenesis associated
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HYLS1
Synonyms (NCBI Gene) Gene synonyms aliases	HLS
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	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]

Show/Hide all(30)

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

Show/Hide all(11)

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:0005813	Component	Centrosome	IDA	21399614
GO:0005814	Component	Centriole	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	ISS
GO:0060271	Process	Cilium assembly	IBA	21873635
GO:0060271	Process	Cilium assembly	ISS
GO:0097730	Component	Non-motile cilium	IBA	21873635

MIM	HGNC	e!Ensembl
610693	26558	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

Interactions

View interactions

Show/Hide Causal Diseases (19)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrioventricular septal defect	Atrioventricular Septal Defect	rs137852683, rs137852686, rs104894073, rs1598737972, rs1057518960, rs774018674, rs1575650682, rs1598737976, rs1188358849, rs2033057699
Cerebellar vermis agenesis	Familial aplasia of the vermis	rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003 View all (121 more)	26830932, 15843405, 18648327
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hydrolethalus syndrome	HYDROLETHALUS SYNDROME 1, Hydrolethalus syndrome, Hydrolethalus	rs104894232, rs137852520, rs752248403, rs797045674, rs797045673, rs1557090161, rs1575362216, rs1575362492	15843405, 26830932, 18648327, 2074561, 19400947
Joubert syndrome	Joubert syndrome 1, Joubert syndrome	rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129 View all (432 more)	26830932
Meckel syndrome	Meckel syndrome type 1	rs201108965, rs386833831, rs386833830, rs116358011, rs118204052, rs121918201, rs121918202, rs121918203, rs137852835, rs267606719, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187 View all (125 more)
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polydactyly	Polydactyly, Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457 View all (19 more)
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Hydrolethalus Syndrome	hydrolethalus syndrome	GenCC

Show/Hide Text Mining Associations (1)

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

HYLS1 (HYLS1 centriolar and ciliogenesis associated)