Property Summary

NCBI Gene PubMed Count 12
Grant Count 66
R01 Count 25
Funding $17,353,762.53
PubMed Score 289.77
PubTator Score 8.83

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q96M11 B3KXI8 Q96BX9
Symbols HLS

Gene

Gene RIF (2)

PMID Text
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18648327 Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1

AA Sequence

MEELLPDGQIWANMDPEERMLAAATAFTHICAGQGEGDVRREAQSIQYDPYSKASVAPGKRPALPVQLQY      1 - 70
PHVESNVPSETVSEASQRLRKPVMKRKVLRRKPDGEVLVTDESIISESESGTENDQDLWDLRQRLMNVQF     71 - 140
QEDKESSFDVSQKFNLPHEYQGISQDQLICSLQREGMGSPAYEQDLIVASRPKSFILPKLDQLSRNRGKT    141 - 210
DRVARYFEYKRDWDSIRLPGEDHRKELRWGVREQMLCRAEPQSKPQHIYVPNNYLVPTEKKRSALRWGVR    211 - 280
CDLANGVIPRKLPFPLSPS                                                       281 - 299
//

Text Mined References (15)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19656802 2009 The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation.
18648327 2008 Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15843405 2005 Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
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