Version: 8.0.0Date: Tue Jan 28 2025
Gene
HIF1A
- Species
- Homo sapiens
- Symbol
- HIF1A
- Name
- hypoxia inducible factor 1 subunit alpha
- Synonyms
- ARNT interacting protein
- ARNT-interacting protein
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; Hsp90 protein binding activity; and enzyme binding activity. Contributes to DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in several processes, including intracellular oxygen homeostasis; regulation of gene expression; and vascular endothelial growth factor production. Acts upstream of or within regulation of DNA-templated transcription and response to hypoxia. Located in chromatin; cytosol; and nuclear body. Part of RNA polymerase II transcription regulator complex. Implicated in lung non-small cell carcinoma; myocardial infarction; prostate cancer; and type 2 diabetes mellitus. Biomarker of several diseases, including arthritis (multiple); gastrointestinal system cancer (multiple); hypertension (multiple); kidney cancer (multiple); and obesity (multiple).
- RGD Description
- This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR23043
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr14:61695513...61748259 + (52.75 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.