Description: Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 3, mRNA. RefSeq Summary (NM_001243084): 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]. Transcript (Including UTRs) Position: hg19 chr14:62,164,340-62,214,977 Size: 50,638 Total Exon Count: 15 Strand: + Coding Region Position: hg19 chr14:62,164,569-62,213,803 Size: 49,235 Coding Exon Count: 15
CD40 Ligand Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903293]
The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
cervical cancer endometrial cancer ovarian cancer Konac, E. et al. 2007, An investigation of relationships between hypoxia-inducible factor-1alpha gene polymorphisms and ovarian, cervical and endometrial cancers, Cancer Detect Prev 2007.
[PubMed 17418979]
Our results suggest that the C1772T polymorphism of the HIF-1 alpha may be associated with cervical and endometrial cancers.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on C0LZJ3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK296876 - Homo sapiens cDNA FLJ54364 complete cds, highly similar to Hypoxia-inducible factor 1 alpha. AK304436 - Homo sapiens cDNA FLJ57096 complete cds, highly similar to Hypoxia-inducible factor 1 alpha. AK299551 - Homo sapiens cDNA FLJ59406 complete cds, highly similar to Hypoxia-inducible factor 1 alpha. AK304315 - Homo sapiens cDNA FLJ55752 complete cds, highly similar to Hypoxia-inducible factor 1 alpha. FW408286 - NUCLEIC ACID COMPOUNDS FOR INHIBITING HIF1A GENE EXPRESSION AND USES THEREOF. FW408287 - NUCLEIC ACID COMPOUNDS FOR INHIBITING HIF1A GENE EXPRESSION AND USES THEREOF. BX648795 - Homo sapiens mRNA; cDNA DKFZp686O09143 (from clone DKFZp686O09143). U29165 - Human MOP1 mRNA, complete cds. BC012527 - Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor), mRNA (cDNA clone MGC:10483 IMAGE:3842146), complete cds. AK312397 - Homo sapiens cDNA, FLJ92729, highly similar to Homo sapiens hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), mRNA. AB733094 - Homo sapiens HIF-1A mRNA for hypoxia-inducible factor1alpha, complete cds. AB073325 - Homo sapiens HIF1A mRNA for hypoxia-inducible factor 1 alpha variant, complete cds. U22431 - Human hypoxia-inducible factor 1 alpha (HIF-1 alpha) mRNA, complete cds. AB500182 - Homo sapiens HIF1A mRNA for hypoxia-inducible factor 1, alpha subunit, variant K12NR, complete cds. AF207601 - Homo sapiens cell-line GM11201 hypoxia-inducible factor 1 alpha (HIF1A) mRNA, complete cds. AF207602 - Homo sapiens cell-line GM11197 hypoxia-inducible factor 1 alpha (HIF1A) mRNA, complete cds. AB385144 - Synthetic construct DNA, clone: pF1KB5648, Homo sapiens HIF1A gene for hypoxia-inducible factor 1 alpha, complete cds, without stop codon, in Flexi system. KJ896971 - Synthetic construct Homo sapiens clone ccsbBroadEn_06365 HIF1A gene, encodes complete protein. KR710293 - Synthetic construct Homo sapiens clone CCSBHm_00011107 HIF1A (HIF1A) mRNA, encodes complete protein. KR710294 - Synthetic construct Homo sapiens clone CCSBHm_00011108 HIF1A (HIF1A) mRNA, encodes complete protein. BT009776 - Homo sapiens hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) mRNA, complete cds. AF304431 - Homo sapiens hypoxia-inducible factor 1 alpha subunit (HIF1A) mRNA, complete cds. FJ790247 - Homo sapiens hypoxia-inducible factor 1 alpha isoform I.3 (HIF1A) mRNA, complete cds. LZ221033 - WO 2017163391-A/9: Method of evaluating or selecting androgen receptor regulator specific to sebaceous gland in skin or hair follicle. LZ221031 - WO 2017163391-A/7: Method of evaluating or selecting androgen receptor regulator specific to sebaceous gland in skin or hair follicle. DQ975378 - Homo sapiens hypoxia-inducible factor 1 alpha subunit transcript variant 3-like (HIF1A) mRNA, partial sequence, alternatively spliced. X72726 - H.sapiens tunp mRNA for transformation upregulated nuclear protein, exon D. JD490881 - Sequence 471905 from Patent EP1572962. JD400349 - Sequence 381373 from Patent EP1572962. JD062765 - Sequence 43789 from Patent EP1572962. AJ227916 - Homo sapiens partial mRNA; ID LG141-7A. JD349463 - Sequence 330487 from Patent EP1572962. JD549407 - Sequence 530431 from Patent EP1572962. JD083405 - Sequence 64429 from Patent EP1572962. MP119867 - Sequence 10 from Patent EP3444356. MP119865 - Sequence 8 from Patent EP3444356.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04150 - mTOR signaling pathway hsa05200 - Pathways in cancer hsa05211 - Renal cell carcinoma
BioCarta from NCI Cancer Genome Anatomy Project h_p53hypoxiaPathway - Hypoxia and p53 in the Cardiovascular system h_eponfkbPathway - Erythropoietin mediated neuroprotection through NF-kB h_vegfPathway - VEGF, Hypoxia, and Angiogenesis h_hifPathway - Hypoxia-Inducible Factor in the Cardiovascular System