| Gene Symbol | HIF1A |
|---|---|
| Entrez Gene | 3091 |
| Alt Symbol | HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78 |
| Species | Human |
| Gene Type | protein-coding |
| Description | hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) |
| Other Description | ARNT interacting protein|ARNT-interacting protein|HIF-1-alpha|PAS domain-containing protein 8|basic-helix-loop-helix-PAS protein MOP1|class E basic helix-loop-helix protein 78|hypoxia-inducible factor 1 alpha isoform I.3|hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)|hypoxia-inducible factor 1-alpha|hypoxia-inducible factor1alpha|member of PAS protein 1|member of PAS superfamily 1 |
| Swissprots | Q16665 Q53XP6 C0LZJ3 Q9UPB1 Q96PT9 |
| Accessions | AAC68568 AAF20149 EAW80806 EAW80807 EAW80808 EAW80809 Q16665 AB073325 BAB70608 AB500182 BAI49183 AB733094 BAM28632 AF207601 AAF20139 AF207602 AAF20140 AF304431 AAG43026 AJ227916 AK093749 AK296876 BAG59438 AK299551 BAG61496 AK304315 BAG65167 AK304436 BAG65259 AK312397 BAG35314 AU123241 BC012527 AAH12527 BT009776 AAP88778 BX648795 CN264295 CN264320 DC344032 DQ975378 FJ790247 ACN88547 U22431 AAC50152 U29165 AAC51210 X72726 NM_001243084 NP_001230013 NM_001530 NP_001521 NM_181054 NP_851397 |
| Function | Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) of target gene promoters. Activation requires recruitment of transcriptional coactivators such as CREBPB and EP300. Activity is enhanced by interaction with both, NCOA1 or NCOA2. Interaction with redox regulatory protein APEX seems to activate CTAD and potentiates activation by NCOA1 and CREBBP. Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia. {ECO:0000269|PubMed:11292861, EC |
| Subcellular Location | Cytoplasm. Nucleus. Nucleus speckle {ECO:0000250|UniProtKB:Q61221}. Note=Colocalizes with HIF3A in the nucleus and speckles (By similarity). Cytoplasmic in normoxia, nuclear translocation in response to hypoxia. Colocalizes with SUMO1 in the nucleus, under hypoxia. {ECO:0000250|UniProtKB:Q61221}. |
| Tissue Specificity | Expressed in most tissues with highest levels in kidney and heart. Overexpressed in the majority of common human cancers and their metastases, due to the presence of intratumoral hypoxia and as a result of mutations in genes encoding oncoproteins and tumor suppressors. A higher level expression seen in pituitary tumors as compared to the pituitary gland. {ECO:0000269|PubMed:22009797}. |
| Top Pathways | Renal cell carcinoma, Central carbon metabolism in cancer, Choline metabolism in cancer, Proteoglycans in cancer, mTOR signaling pathway |