Version 5.4
Homo sapiens Protein: HYLS1
Summary
InnateDB Protein IDBP-384472.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HYLS1
Protein Name hydrolethalus syndrome 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000414884
InnateDB Gene IDBG-75678 (HYLS1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cytoplasm {ECO:0000269PubMed:15843405}.
Disease Associations Hydrolethalus syndrome 1 (HLS1) [MIM:236680]: 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. {ECO:0000269PubMed:15843405}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005886 plasma membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96M11
PhosphoSite PhosphoSite-Q96M11
TrEMBL A0A024R3K0
UniProt Splice Variant
Entrez Gene 219844
UniGene Hs.98133
RefSeq NP_001128265
HUGO HGNC:26558
OMIM 610693
CCDS CCDS8467
HPRD 08148
IMGT
EMBL AK057477 AK127394 AP000842 BC015047 CH471065
GenPept AAH15047 BAB71503 BAG54500 EAW67665 EAW67666

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca