HYOU1 Chromosome 11

Hypoxia up-regulated 1
8 variants 8 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Heat shock 70kDa proteins
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000149428
Associated Conditions (2)
Granulocytopenia with immunoglobulin abnormality
HYOU1-related disorder
Key Variants
All Variants (8)
RSID Category Clinical Significance Conditions
RS1187922643 Health Risk Conflicting classifications of pathogenicity
RS142217566 Health Risk Conflicting classifications of pathogenicity
RS200889203 Health Risk Conflicting classifications of pathogenicity Granulocytopenia with immunoglobulin abnormality, Granulocytopenia with immunoglobulin abnormality
RS372581628 Health Risk Conflicting classifications of pathogenicity
RS782514180 Health Risk Conflicting classifications of pathogenicity HYOU1-related disorder, HYOU1-related disorder
RS782654390 Health Risk Conflicting classifications of pathogenicity
RS1944464234 Health Risk Pathogenic Granulocytopenia with immunoglobulin abnormality, Granulocytopenia with immunoglobulin abnormality
RS1944619636 Health Risk Pathogenic Granulocytopenia with immunoglobulin abnormality, Granulocytopenia with immunoglobulin abnormality
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