Varaico: Literature-Extracted Genetic Variants

Gene:HIF1A
Variant:p.P402A
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HIF1A

NM_001530.4:p.P402A

Associated Papers

Hypoxia-inducible factor 1 protects neurons from Sarm1-mediated neurodegeneration.

Meraner P et al.

Cell Reports, 2026

Mitochondrial VHL rewires cell metabolism in hypoxia.

Li G et al.

Cell Metabolism, 2026

HIF1 activity in photoreceptors drives type 3 neovascularization and retinal atrophy in a new mouse model of age-related macular degeneration.

Geiger F et al.

Cell Death & Disease, 2025

Osteocytic oxygen sensing: Distinct impacts of VHL and HIF-2alpha on bone integrity.

Mendoza SV et al.

Bone, 2025

Hypoxia-inducible factor 1 protects neurons from Sarm1-mediated neurodegeneration.

Meraner P et al.

Biorxiv : the Preprint Server for Biology, 2025

Hypoxia-dependent recruitment of error-prone DNA polymerases to genome replication.

Yehuda R et al.

Oncogene, 2025

VHL loss enhances antitumor immunity by activating the anti-viral DNA-sensing pathway.

Jiao M et al.

Iscience, 2024

Cathepsins L and B target HIF1α for oxygen-independent proteolytic cleavage.

Stuart S et al.

Scientific Reports, 2024

Transfection of hypoxia-inducible factor-1α mRNA upregulates the expression of genes encoding angiogenic growth factors.

Wlodarczyk J et al.

Scientific Reports, 2024

Multimerization of HIF enhances transcription of target genes containing the hypoxia ancillary sequence.

Rosell-Garcia T et al.

Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms, 2023

VHL loss enables immune checkpoint blockade therapy by boosting type I interferon response.

Jiao M et al.

Biorxiv : the Preprint Server for Biology, 2023

Oxidized Low-Density Lipoprotein Accumulation Suppresses Glycolysis and Attenuates the Macrophage Inflammatory Response by Diverting Transcription from the HIF-1α to the Nrf2 Pathway.

Ting KKY et al.

Journal of Immunology (baltimore, Md. : 1950), 2023

VBP1 negatively regulates CHIP and selectively inhibits the activity of hypoxia-inducible factor (HIF)-1α but not HIF-2α.

Yue Y et al.

The Journal of Biological Chemistry, 2023

Novel genetically engineered mouse models for clear cell renal cell carcinoma.

van der Mijn JC et al.

Scientific Reports, 2023

ABL kinases regulate the stabilization of HIF-1α and MYC through CPSF1.

Mayro B et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Tumor growth of neurofibromin-deficient cells is driven by decreased respiration and hampered by NAD+ and SIRT3.

Masgras I et al.

Cell Death and Differentiation, 2022

ID2 and HIF-1α collaborate to protect quiescent hematopoietic stem cells from activation, differentiation, and exhaustion.

Jakubison BL et al.

The Journal of Clinical Investigation, 2022

35775482 (PubMed )
Supplement: jci-132-152599-s045.pdf

USP25 promotes pathological HIF-1-driven metabolic reprogramming and is a potential therapeutic target in pancreatic cancer.

Nelson JK et al.

Nature Communications, 2022

ER-stress promotes VHL-independent degradation of hypoxia-inducible factors via FBXW1A/βTrCP.

Mennerich D et al.

Redox Biology, 2022

NOTCH-mediated ex vivo expansion of human hematopoietic stem and progenitor cells by culture under hypoxia.

Araki D et al.

Stem Cell Reports, 2021

34450041 (PubMed )
Supplement: mmc1.pdf

Regulatory Mechanisms and Functional Roles of Hypoxia-Induced Long Non-Coding RNA MTORT1 in Breast Cancer Cells.

Cheng YC et al.

Frontiers in Oncology, 2021

The RabGEF ALS2 is a hypoxia inducible target associated with the acquisition of aggressive traits in tumor cells.

Rivas S et al.

Scientific Reports, 2020

Inducing cancer indolence by targeting mitochondrial Complex I is potentiated by blocking macrophage-mediated adaptive responses.

Kurelac I et al.

Nature Communications, 2019

Protective Effect of the HIF-1A Pro582Ser Polymorphism on Severe Diabetic Retinopathy.

Ekberg NR et al.

Journal of Diabetes Research, 2019

Pulmonary artery smooth muscle cell HIF-1α regulates endothelin expression via microRNA-543.

Wang CC et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2018

The Protein Phosphatase PPM1G Destabilizes HIF-1α Expression.

Pyo J et al.

International Journal of Molecular Sciences, 2018

A circadian clock gene, PER2, activates HIF-1 as an effector molecule for recruitment of HIF-1α to promoter regions of its downstream genes.

Kobayashi M et al.

The Febs Journal, 2017

XIAP upregulates expression of HIF target genes by targeting HIF1α for Lys63-linked polyubiquitination.

Park CV et al.

Nucleic Acids Research, 2017

The SWI/SNF Protein PBRM1 Restrains VHL-Loss-Driven Clear Cell Renal Cell Carcinoma.

Nargund AM et al.

Cell Reports, 2017

Ubiquitination is absolutely required for the degradation of hypoxia-inducible factor--1 alpha protein in hypoxic conditions.

Wang R et al.

Biochemical and Biophysical Research Communications, 2016

E3 Ubiquitin Ligase VHL Regulates Hypoxia-Inducible Factor-1α to Maintain Regulatory T Cell Stability and Suppressive Capacity.

Lee JH et al.

Immunity, 2015

K63 linked ubiquitin chain formation is a signal for HIF1A degradation by Chaperone-Mediated Autophagy.

Ferreira JV et al.

Scientific Reports, 2015

Fructose-1,6-bisphosphatase opposes renal carcinoma progression.

Li B et al.

Nature, 2014

O-GlcNAcylation regulates cancer metabolism and survival stress signaling via regulation of the HIF-1 pathway.

Ferrer CM et al.

Molecular Cell, 2014

HIF-1-PHD2 axis controls expression of syndecan 4 in nucleus pulposus cells.

Fujita N et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

Human rhomboid family-1 suppresses oxygen-independent degradation of hypoxia-inducible factor-1α in breast cancer.

Zhou Z et al.

Cancer Research, 2014

Gramicidin A blocks tumor growth and angiogenesis through inhibition of hypoxia-inducible factor in renal cell carcinoma.

David JM et al.

Molecular Cancer Therapeutics, 2014

Hypoxia-inducible factor 3 is an oxygen-dependent transcription activator and regulates a distinct transcriptional response to hypoxia.

Zhang P et al.

Cell Reports, 2014

STUB1/CHIP is required for HIF1A degradation by chaperone-mediated autophagy.

Ferreira JV et al.

Autophagy, 2013

Chaperone-mediated autophagy targets hypoxia-inducible factor-1α (HIF-1α) for lysosomal degradation.

Hubbi ME et al.

The Journal of Biological Chemistry, 2013

The Kaposi's sarcoma-associated herpesvirus ORF34 protein binds to HIF-1α and causes its degradation via the proteasome pathway.

Haque M et al.

Journal of Virology, 2013

Regulation of hypoxia-inducible factor 2-a is essential for integrity of the glomerular barrier.

Ding M et al.

American Journal of Physiology. Renal Physiology, 2013

STAT3 or USF2 contributes to HIF target gene specificity.

Pawlus MR et al.

Plos One, 2013

Expression of prolyl hydroxylases (PHDs) is selectively controlled by HIF-1 and HIF-2 proteins in nucleus pulposus cells of the intervertebral disc: distinct roles of PHD2 and PHD3 proteins in controlling HIF-1α activity in hypoxia.

Fujita N et al.

The Journal of Biological Chemistry, 2012

Four-and-a-half LIM domain proteins inhibit transactivation by hypoxia-inducible factor 1.

Hubbi ME et al.

The Journal of Biological Chemistry, 2012

Conditional hypoxia inducible factor-1α induction in embryonic pulmonary epithelium impairs maturation and augments lymphangiogenesis.

Bridges JP et al.

Developmental Biology, 2012

Factor inhibiting HIF (FIH-1) promotes renal cancer cell survival by protecting cells from HIF-1α-mediated apoptosis.

Khan MN et al.

British Journal of Cancer, 2011

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