Varaico: Literature-Extracted Genetic Variants

Gene:HIF1A
Variant:p.P564A
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HIF1A

NM_001530.4:p.P564A

Associated Papers

Mitochondrial VHL rewires cell metabolism in hypoxia.

Li G et al.

Cell Metabolism, 2026

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

Mendoza SV et al.

Bone, 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

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

AEP-cleaved DDX3X induces alternative RNA splicing events to mediate cancer cell adaptation in harsh microenvironments.

Zhang W et al.

The Journal of Clinical Investigation, 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

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

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

Ekberg NR et al.

Journal of Diabetes Research, 2019

Studies on the Substrate Selectivity of the Hypoxia-Inducible Factor Prolyl Hydroxylase 2 Catalytic Domain.

Abboud MI et al.

Chembiochem : a European Journal of Chemical Biology, 2018

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

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency.

Heeney MM et al.

Blood, 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

RSUME inhibits VHL and regulates its tumor suppressor function.

Gerez J et al.

Oncogene, 2015

RHOBTB3 promotes proteasomal degradation of HIFα through facilitating hydroxylation and suppresses the Warburg effect.

Zhang CS et al.

Cell Research, 2015

26215701 (PubMed )
Supplement: cr201590x2.pdf

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

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

Enzyme 15-lipoxygenase 1 promotes hypoxia-inducible factor 1α turnover and reduces vascular endothelial growth factor expression: implications for angiogenesis.

Zhong H et al.

Cancer Medicine, 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

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

HIF-1α confers aggressive malignant traits on human tumor cells independent of its canonical transcriptional function.

Yoo YG et al.

Cancer Research, 2011

Plk3 functions as an essential component of the hypoxia regulatory pathway by direct phosphorylation of HIF-1alpha.

Xu D et al.

The Journal of Biological Chemistry, 2010

LW6, a novel HIF-1 inhibitor, promotes proteasomal degradation of HIF-1alpha via upregulation of VHL in a colon cancer cell line.

Lee K et al.

Biochemical Pharmacology, 2010

Hsp70 and CHIP selectively mediate ubiquitination and degradation of hypoxia-inducible factor (HIF)-1alpha but Not HIF-2alpha.

Luo W et al.

The Journal of Biological Chemistry, 2010

COMMD1 Promotes pVHL and O2-Independent Proteolysis of HIF-1alpha via HSP90/70.

van de Sluis B et al.

Plos One, 2009

SEPT9_v1 up-regulates hypoxia-inducible factor 1 by preventing its RACK1-mediated degradation.

Amir S et al.

The Journal of Biological Chemistry, 2009

Oxygen-independent degradation of HIF-alpha via bioengineered VHL tumour suppressor complex.

Sufan RI et al.

Embo Molecular Medicine, 2009

Deletion of the von Hippel-Lindau gene in pancreatic beta cells impairs glucose homeostasis in mice.

Cantley J et al.

The Journal of Clinical Investigation, 2009

Identification of an alternative mechanism of degradation of the hypoxia-inducible factor-1alpha.

André H et al.

The Journal of Biological Chemistry, 2008

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