HIF1A (hypoxia inducible factor 1 subunit alpha)

2003-02-01  

Identity

HGNC
HIF1A
LOCATION
14q23.2
LOCUSID
3091
ALIAS
HIF-1-alpha,HIF-1A,HIF-1alpha,HIF1,HIF1-ALPHA,MOP1,PASD8,bHLHe78
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164924493axitinibChemicalClinicalAnnotationassociatedPD25816720
PA7000sorafenibChemicalClinicalAnnotationassociatedPD25816720

References

Pubmed IDYearTitleCitations
357629282024Effect of HIF-1α on estrogen/ERα signaling pathway in pituitary adenoma cells in hypoxic environment.0
363854512024Aerobic Glycolysis Induced by mTOR/HIF-1α Promotes Early Brain Injury After Subarachnoid Hemorrhage via Activating M1 Microglia.6
371587852024Human ESC-derived vascular cells promote vascular regeneration in a HIF-1α dependent manner.1
373922422024The Relation of VEGFA, VEGFR2, VEGI, and HIF1A Genetic Variants and Their Serum Protein Levels with Breast Cancer in Egyptian Patients.0
375523892024The strict regulation of HIF-1α by non-coding RNAs: new insight towards proliferation, metastasis, and therapeutic resistance strategies.4
377332672024Canonical Wnt signaling promotes HSC glycolysis and liver fibrosis through an LDH-A/HIF-1α transcriptional complex.3
377862692024HIF-1α Contributes to Hypoxia-induced VSMC Proliferation and Migration by Regulating Autophagy in Type A Aortic Dissection.1
378328422024Apolipoprotein A-I Binding Protein Inhibits the Formation of Infantile Hemangioma through Cholesterol-Regulated Hypoxia-Inducible Factor 1α Activation.0
378841622024The SNHG10-miR-495-3p-PTEN axis is involved in sevoflurane-mediated protective effects in cardiomyocytes against hypoxia/reoxygenation injury.0
379521042024Nicotinamide Riboside Modulates HIF-1 Signaling to Maintain and Enhance Odontoblastic Differentiation in Human Dental Pulp Stem Cells.0
379570272024Overexpression of VEGFA mediated by HIF-1 is associated with higher rate of spread through air spaces in resected lung adenocarcinomas.0
379838952024Hypoxia-induced factor-1α promotes radioresistance of esophageal cancer cells by transcriptionally activating LINC01116 and suppressing miR-3612 under hypoxia.0
380131272024LINC02561 promotes metastasis in HCC via HIF1-α/NDRG1/UPF1 axis.0
380191292024IL-17A Orchestrates Reactive Oxygen Species/HIF1α-Mediated Metabolic Reprogramming in Psoriasis.2
380378342024KIF20A Promotes CRC Progression and the Warburg Effect through the C-Myc/HIF-1α Axis.0

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/js/lib/favicon/humanGenome