| Gene Information | |
|---|---|
| Gene Name | HIF3A |
| Organism | Homo sapiens (Human) |
| Gene Length | 669 |
| Protein Names | Hypoxia-inducible factor 3-alpha (HIF-3-alpha) (HIF3-alpha) (Basic-helix-loop-helix-PAS protein MOP7) (Class E basic helix-loop-helix protein 17) (bHLHe17) (HIF3-alpha-1) (Inhibitory PAS domain protein) (IPAS) (Member of PAS protein 7) (PAS domain-containing protein 7) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 332 ( ENSG00000124440 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q9Y2N7 |
| Gene Card | HIF3A |
| Uniprot ID | Q9Y2N7 |
| Pfam | PF11413; PF00989; PF08447 |
| In ASD | no |
| Allosteric Prediction | no (-0.105876503) |
| Ortholog in Animals | Alpaca_ HIF3A ( ortholog_one2one ) Dog_ HIF3A ( ortholog_one2one ) GuineaPig_ HIF3A ( ortholog_one2one ) Macaque_ HIF3A ( ortholog_one2one ) Mouse_ Hif3a ( ortholog_one2one ) Pig_ HIF3A ( ortholog_one2one ) Rat_ Hif3a ( ortholog_one2one ) |
| Ohnologs | HIF1A, EPAS1 |
| Paralogs | EPAS1, SIM1, NPAS1, SIM2, NPAS4, HIF1A, NPAS3 |
| Tissue | NA |
| Tissue Specificity | Expressed in vascular cells (at protein level) (PubMed:21069422). Expressed in kidney (PubMed:11573933, PubMed:19694616). Expressed in lung epithelial cells (PubMed:16775626). Expressed in endothelial cells (venous and arterial cells from umbilical cord and aortic endothelial cells) and in vascular smooth muscle cells (aorta) (PubMed:21069422). Strongly expressed in the heart, placenta, and skeletal muscle, whereas a weak expression profile was found in the lung, liver, and kidney (PubMed:12538644). Expressed weakly in cell renal cell carcinoma (CC-RCC) compared to normal renal cells (PubMed:16126907). Expression is down-regulated in numerous kidney tumor cells compared to non tumor kidney tissues (PubMed:16126907). Isoform 2 is expressed in heart, placenta, lung, liver, skeletal muscle and pancreas and in numerous cancer cell lines (PubMed:20416395). Isoform 3 and isoform 4 are weakly expressed in heart, placenta, lung, liver, skeletal muscle and pancreas (PubMed:20416395). Isoform 4 is expressed in fetal tissues, such as heart, brain, thymus, lung, liver, skeletal kidney and spleen (PubMed:20416395). Isoform 3 is weakly expressed in fetal tissues, such as liver and kidney (PubMed:20416395). {ECO:0000269|PubMed:11573933, ECO:0000269|PubMed:12538644, ECO:0000269|PubMed:16126907, ECO:0000269|PubMed:16775626, ECO:0000269|PubMed:19694616, ECO:0000269|PubMed:20416395, ECO:0000269|PubMed:21069422}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 4WN5 (X-ray 1.15A ) |
| DBSNP | rs3764609 rs7253301 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:16775626, ECO:0000269|PubMed:19694616}. Cytoplasm {ECO:0000269|PubMed:19694616}. Nucleus speckle {ECO:0000250|UniProtKB:Q0VBL6}. Mitochondrion {ECO:0000250|UniProtKB:Q0VBL6}. Note=In the nuclei of all periportal and perivenous hepatocytes. In the distal perivenous zone, detected in the cytoplasm of the hepatocytes. Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Colocalizes with BAD in the cytoplasm. Colocalizes with EPAS1 and HIF1A in the nucleus and speckles (By similarity). Localized in the cytoplasm and nuclei under normoxia, but increased in the nucleus under hypoxic conditions (PubMed:19694616). Colocalized with HIF1A in kidney tumors (PubMed:19694616). {ECO:0000250|UniProtKB:Q0VBL6, ECO:0000250|UniProtKB:Q9JHS2, ECO:0000269|PubMed:19694616}. |
| Mouse PG classification | NA |
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