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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HYOU1
hypoxia up-regulated 1
Chromosome 11 · 11q23.3
NCBI Gene: 10525Ensembl: ENSG00000149428.21HGNC: HGNC:16931UniProt: A0A384P5T6
204PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
response to endoplasmic reticulum stressendoplasmic reticulumcellular response to hypoxianegative regulation of hypoxia-induced intrinsic apoptotic signaling pathwayneurodegenerative diseasegranulocytopenia with immunoglobulin abnormalitydengue diseasecoronary artery disease
✦AI Summary

HYOU1 (hypoxia up-regulated 1) is a molecular chaperone protein that plays critical roles in cellular stress responses and protein folding. Under hypoxic conditions and endoplasmic reticulum stress, HYOU1 promotes HSPA5/BiP-mediated ATP nucleotide exchange, thereby activating the unfolded protein response (UPR) pathway 1. The protein demonstrates significant clinical relevance across multiple pathological contexts. In cancer biology, HYOU1 functions as an oncogene, promoting cell proliferation, migration, and invasion through activation of PI3K/AKT signaling pathways in bladder cancer 2 and epithelial ovarian cancer 3. In papillary thyroid cancer, HYOU1 facilitates glycolysis by stabilizing LDHB mRNA expression 4. Beyond cancer, HYOU1 has emerged as a potential therapeutic target, with beneficial effects observed in heart disease prevention during caloric restriction 5. The gene shows disease associations with primary immunodeficiencies, as novel mutations in HYOU1 have been identified in patients with severe congenital neutropenia 6. Additionally, HYOU1 supports immune regulation by enhancing regulatory T cell function through mitochondrial N-glycosylation processes 1, highlighting its multifaceted role in both pathological and protective cellular mechanisms.

Sources cited
1
HYOU1 promotes HSPA5/BiP-mediated ATP nucleotide exchange and activates UPR pathway; supports Treg function through mitochondrial N-glycosylation
PMID: 39264847
2
HYOU1 promotes cell proliferation, migration, and invasion via PI3K/AKT/FOXO1 signaling in bladder cancer
PMID: 36348197
3
HYOU1 promotes cell growth and metastasis via activating PI3K/AKT signaling in epithelial ovarian cancer
PMID: 31173282
4
HYOU1 facilitates proliferation, invasion and glycolysis by stabilizing LDHB mRNA in papillary thyroid cancer
PMID: 33792181
5
HYOU1 changes during fasting show putative beneficial effects for heart disease
PMID: 38429390
6
Novel HYOU1 mutations identified in patients with severe congenital neutropenia
PMID: 35822684
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.54Moderate
granulocytopenia with immunoglobulin abnormalityOpen Targets
0.52Moderate
dengue diseaseOpen Targets
0.37Weak
coronary artery diseaseOpen Targets
0.29Weak
gallstonesOpen Targets
0.14Weak
obesityOpen Targets
0.13Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeOpen Targets
0.12Weak
neoplasmOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
thyroid cancerOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
obstructive sleep apneaOpen Targets
0.04Suggestive
peripheral arterial diseaseOpen Targets
0.04Suggestive
smoking initiationOpen Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
Joubert syndromeOpen Targets
0.03Suggestive
Immunodeficiency 59 and hypoglycemiaUniProt
Pathogenic Variants2
NM_006389.5(HYOU1):c.1255G>C (p.Ala419Pro)Pathogenic
Granulocytopenia with immunoglobulin abnormality
☆☆☆☆2021→ Residue 419
NM_006389.5(HYOU1):c.691T>C (p.Tyr231His)Pathogenic
Granulocytopenia with immunoglobulin abnormality
☆☆☆☆2018→ Residue 231
View on ClinVar ↗
Related Genes
SEC63Protein interaction100%ATF6Protein interaction100%GRPEL1Protein interaction96%OS9Protein interaction96%GANABProtein interaction95%CALRProtein interaction94%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
65%
Brain
64%
Heart
43%
Lung
41%
Ovary
32%
Gene Interaction Network
Click a node to explore
HYOU1SEC63ATF6GRPEL1OS9GANABCALR
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6IN67
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.31 [0.24–0.41]
RankingsWhere HYOU1 stands among ~20K protein-coding genes
  • #2,057of 20,598
    Most Researched204 · top 10%
  • #4,245of 5,498
    Most Pathogenic Variants2
  • #2,102of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedHYOU1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Systemic proteome adaptions to 7-day complete caloric restriction in humans.
PMID: 38429390
Nat Metab · 2024
1.00
2
Lactate supports Treg function and immune balance via MGAT1 effects on N-glycosylation in the mitochondria.
PMID: 39264847
J Clin Invest · 2024
0.90
3
CPE/HYOU1 axis-activated Hippo-YAP signaling pathway suppresses PANoptosis to facilitate osteosarcoma progression.
PMID: 41213463
Cancer Lett · 2026
0.80
4
HYOU1/Orp150 expression in breast cancer.
PMID: 17968289
Med Sci Monit · 2007
0.76
5
The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
PMID: 35822684
Iran J Allergy Asthma Immunol · 2022
0.70