HYOU1 Chromosome 11
Hypoxia up-regulated 1
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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
RS1187922643
Conflicting classifications of pathogenicity
Health Risk
RS142217566
Conflicting classifications of pathogenicity
Health Risk
RS200889203
Conflicting classifications of pathogenicity
Granulocytopenia with immunoglobulin abnormality, Granulocytopenia with immunoglobulin abnormality
Health Risk
RS372581628
Conflicting classifications of pathogenicity
Health Risk
RS782514180
Conflicting classifications of pathogenicity
HYOU1-related disorder, HYOU1-related disorder
Health Risk
RS782654390
Conflicting classifications of pathogenicity
Health Risk
RS1944464234
Pathogenic
Granulocytopenia with immunoglobulin abnormality, Granulocytopenia with immunoglobulin abnormality
Health Risk
RS1944619636
Pathogenic
Granulocytopenia with immunoglobulin abnormality, Granulocytopenia with immunoglobulin abnormality
Health Risk
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 |