InnateDB Protein
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IDBP-384472.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HYLS1
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Protein Name
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hydrolethalus syndrome 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000414884
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InnateDB Gene
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IDBG-75678 (HYLS1)
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Protein Structure
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Function |
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:15843405}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96M11
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PhosphoSite |
PhosphoSite-Q96M11
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TrEMBL |
A0A024R3K0
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UniProt Splice Variant |
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Entrez Gene |
219844
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UniGene |
Hs.98133
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RefSeq |
NP_001128265
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HUGO |
HGNC:26558
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OMIM |
610693
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CCDS |
CCDS8467
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HPRD |
08148
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IMGT |
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EMBL |
AK057477
AK127394
AP000842
BC015047
CH471065
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GenPept |
AAH15047
BAB71503
BAG54500
EAW67665
EAW67666
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