Entity Details

Primary name HYLS1
Entity type gene
Source Source Link

Details

PrimaryID219844
RefseqGeneNG_011842
SymbolHYLS1
NameHYLS1 centriolar and ciliogenesis associated
Chromosome11
Location11q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-05-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHYLS1_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0060271 cilium assembly
GO:0097730 non-motile cilium

Diseases

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Disease IDSourceNameDescription
236680 OMIMHydrolethalus syndrome 1 (HLS1)A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
HYLS1ERG28BioGRID, HPRD, IntAct16169070 details
HYLS1GOLGA2BioGRID, IntAct25416956 details
HYLS1HAUS8BioGRID, IntAct28514442 details
HYLS1IDEBioGRID, IntAct26186194 28514442 details