HIF1A (hypoxia inducible factor 1 subunit alpha)

2003-02-01  

Identity

HGNC
LOCATION
14q23.2
LOCUSID
ALIAS
HIF-1-alpha,HIF-1A,HIF-1alpha,HIF1,HIF1-ALPHA,MOP1,PASD8,bHLHe78
FUSION GENES

Other Information

Locus ID:

NCBI: 3091
MIM: 603348
HGNC: 4910
Ensembl: ENSG00000100644

Variants:

dbSNP: 3091
ClinVar: 3091
TCGA: ENSG00000100644
COSMIC: HIF1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100644ENST00000323441Q16665
ENSG00000100644ENST00000337138Q16665
ENSG00000100644ENST00000337138D0VY79
ENSG00000100644ENST00000394997A8MYV6
ENSG00000100644ENST00000539097Q16665

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Autophagy - animalKEGGko04140
Renal cell carcinomaKEGGko05211
Autophagy - animalKEGGhsa04140
Pathways in cancerKEGGhsa05200
Renal cell carcinomaKEGGhsa05211
HIF-1 signaling pathwayKEGGhsa04066
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Thyroid hormone signaling pathwayKEGGhsa04919
Central carbon metabolism in cancerKEGGhsa05230
Choline metabolism in cancerKEGGhsa05231
Central carbon metabolism in cancerKEGGko05230
Choline metabolism in cancerKEGGko05231
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Signaling by NOTCH1REACTOMER-HSA-1980143
NOTCH1 Intracellular Domain Regulates TranscriptionREACTOMER-HSA-2122947
Circadian ClockREACTOMER-HSA-400253
BMAL1:CLOCK,NPAS2 activates circadian gene expressionREACTOMER-HSA-1368108
Cellular responses to stressREACTOMER-HSA-2262752
Cellular response to hypoxiaREACTOMER-HSA-2262749
Regulation of Hypoxia-inducible Factor (HIF) by oxygenREACTOMER-HSA-1234174
Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor AlphaREACTOMER-HSA-1234162
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor AlphaREACTOMER-HSA-1234176
Regulation of gene expression by Hypoxia-inducible FactorREACTOMER-HSA-1234158
Signaling by PTK6REACTOMER-HSA-8848021
PTK6 ExpressionREACTOMER-HSA-8849473
PTK6 promotes HIF1A stabilizationREACTOMER-HSA-8857538
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659
Interleukin-4 and 13 signalingREACTOMER-HSA-6785807
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164924493axitinibChemicalClinicalAnnotationassociatedPD25816720
PA7000sorafenibChemicalClinicalAnnotationassociatedPD25816720

References

Pubmed IDYearTitleCitations
209654232010Hypoxia-inducible factors and the response to hypoxic stress.644
156527512005Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase.557
146455462003Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation.449
182970622008Direct regulation of TWIST by HIF-1alpha promotes metastasis.434
216201382011Pyruvate kinase M2 is a PHD3-stimulated coactivator for hypoxia-inducible factor 1.421
129129072003HIF prolyl-hydroxylase 2 is the key oxygen sensor setting low steady-state levels of HIF-1alpha in normoxia.393
193595882009Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha.378
118236432002Asparagine hydroxylation of the HIF transactivation domain a hypoxic switch.373
174187902007HIF-1 regulates cytochrome oxidase subunits to optimize efficiency of respiration in hypoxic cells.373
239994402013HIF-1 mediates metabolic responses to intratumoral hypoxia and oncogenic mutations.357

Citation

Dessen P

HIF1A (hypoxia inducible factor 1 subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40821/hif1a-(hypoxia-inducible-factor-1-subunit-alpha)