| Gene Name | EGLN1 |
|
| Specie | Homo sapiens | |
| Full Name | egl-9 family hypoxia inducible factor 1 | |
| Also known as | C1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6 | |
| Coordinate | chr1:231363756-231422332 | |
| Strand | - | |
| Gene summary | The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| EGLN1P1 | chr15:84633499-84636045 | + |
Intergenic |
ENSG00000254779 | UCSC |
| >NM_022051.3 |
| GCAGAGCGAGTGGCGCCCGTATGCCCTGCGCTCCTCCACAGCCTGGGCCGGGCCGCCCGGGACGCTGAggcggcggcggcggccgagggggcCGGTCTTGCGCTCCCCAGGCCCGCGCGCCTGAGCCCAGGTTGCCATTCGCCGCACAGGCCCTATTCTCTCAGCCCTCGGCGGCGATGAGGCGCTGAGGCGGCTGCCGGCGCTGCGCCGGAGCTTAGGACTCGGAAGCGGCCGGGCCGAGGGCGTGGGGTGCCGGCCTCCCTGAGGCGAGGGTAGCGGGTGCATGGCGCAGTAACGGCCCCTATCTCTCTCCCCGCTCCCCAGCCTCGGGCGAGgccgtccggccgctacccctcctgctcggccgccgcagtcgccgtcgccgccgccgccgccgccATGGCCAATGACAGCGGCGGGCCCGGCGGGCCGAGCCCGAGCGAGCGAGACCGGCAGTACTGCGAGCTGTGCGGGAAGATGGAGAACCTGCTGCGCTGCAGCCGCTGCCGCAGCTCCTTCTACTGCTGCAAGGAGCACCAGCGTCAGGACTGGAAGAAGCACAAGCTCGTGTGCCAGGGCAGCGAGGGCGCCCTCGGCCACGGAGTGGGCCCACACCAGCATTCCGGCCCCGCGCCGCCGGCTGCAGTGCCGCCGCCCAGGGCCGGGGCCCGGGAGCCCAGGAAGGCAGCGGCGCGCCGGGACAACGCCTCCGGGGACGCGGCCAAGGGAAAAGTAAAGGCCAAGCCCCCGGCCGACCCAgcggcggccgcgtcgccgtgtcgtgcggccgccggcggccagggctcggcggtggctgcCGAAGCCGAGCCCGGCAAGGAGGAGCCGCCGGCCCGCTCATCGCTGTTCCAGGAGAAGGCGAACCTGTACCCCCCAAGCAACACGCCCGGGGATGCGCTGAGCCCCGGCGGCGGCCTGCGGCCCAACGGGCAGACGAAGCCCCTGCCGGCGCTGAAGCTGGCGCTCGAGTACATCGTGCCGTGCATGAACAAGCACGGCATCTGTGTGGTGGACGACTTCCTCGGCAAGGAGACCGGACAGCAGATCGGCGACGAGGTGCGCGCCCTGCACGACACCGGGAAGTTCACGGACGGGCAGCTGGTCAGCCAGAAGAGTGACTCGTCCAAGGACATCCGAGGCGATAAGATCACCTGGATCGAGGGCAAGGAGCCCGGCTGCGAAACCATTGGGCTGCTCATGAGCAGCATGGACGACCTGATACGCCACTGTAACGGGAAGCTGGGCAGCTACAAAATCAATGGCCGGACGAAAGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGTTATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGTGGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCTAAAGTAAAATATCTAACAGGTGAAAAAGGTGTGAGGGTTGAACTCAATAAACCTTCAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTTTGATCCAGCAATACCCCACTTCACCTACAATATTGTTAACTATTTGTTAACTTGTGAATACGAATAAATGGGATAAAGAAAAATAGACAACCAGTTCGCATTTTAATAAGGAAACAGAAACAACTTTTTGTGTTGCATCAAACAGAAGATTTTGACTGCTGTGACTTTGTACTGCATGATCAACTTCAAATCTGTGATTGCTTACAGGAGGAAGATAAGCTACTAATTGAAAATGGTTTTTACATCTGGATATGAAATAAGTGCCCTGTGTAGAATTTTTTTCATTCTTATATTTTGCCAGATCTGTTATCTAGCTGAGTTCATTTCATCTCTCCCTTTTTTATATCAAGTTTGAATTTGGGATAATTTTTCTATATTAGGTACAATTTATCTAAACTGAATTGAGAAAAAATTACAGTATTATTCCTCAAAATAACATCAATCTATTTTTGTAAACCTGTTCATACTATTAAATTTTGCCCTAAAAGACCTCTTAATAATGATTGTTGCCAGTGACTGATGATTAATTTTATTTTACTTAAAATAAGAAAAGGAGCACTTTAATTACAACTGAAAAATCAGATTGTTTTGTAGTCCTTCCTTACACTAATTTGAACTGTTAAAGATTGCTGCTTTTTTTTTGACATTGTCAATAACGAAACCTAATTGTAAAACAGTCACCATTTACTACCAATAACTTTTAGTTAATGTTTTACAAGGAAAAAGACACAAGAAGAGTTTAAAtttttttgttttgttttgtttttttgagacagtcttgctctgttacccaggctggaggggagtggtgcattcttggctcactgcaacctccgcctcccaggttcaagcaatcctcccacctcagcctcccaactagctgggactgcaggcacacaccaccatgcctgactaatttttgtatgtttagtagagacggggttttgccatgttgcctaggctggGGTTTAAGTTAAATTTTTTAAAAAACTAAAGTGACTGGCACTAAGTGAACTTGAGATTATCCTCAGCTTCAAGTTCCTAAGATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTATCCTCTAGATGTAGACAATAATGTCCCATTTCTAAGTCTTTTCCTTTTGCTTCTCCTTAAATTGATTGTACTTCCAAATTTGCTGTTATGTTTTTTTCCTAATACTGTGATCTATCTGATCTGCAGACAAGAACCTTGTCTCTGTTGAAGAGCATCAAGGGGAGATTATGTACACATTGAAACTGAAGTGTGGTGTTACTGACGGAATGTGCAGTAACTCCTCAGATATCTGTTAAGGCATTTCCCAGATGTGATGCCAGCCTTCTTACCTGTACTGAAAGATGCTTAGCTTAGAAAAAAACAAAACAGATGCAAAATCAGATAATTTTATTTTGTTTCATGGGTTTTCTTATTTACTTTTTAAACAAGGAAGGAATATTAGAAAATCACACAAGGCCTCACATACATGTTATTTAAAGAATGAATTGGGACGGATGTCTTAGACTTCACTTTCCTAGGCTTTTTAGCAAAACCTAAAGGGTGGTATCCATATTTTGCGTGAATTATGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATCTCTGTCCTTGATCTTCTTTGCCAAAATGTGAGTATACAGAAATTTTCTGTATATTTCAACTTAAGACATTTTTAGCATCTGTATAGTTTGTATTCAATTTGAGACCTTTTCTATGGGAAGCTCAGTAATTTTTATTAAAAGATTGCCATTGCTATTCATGTAAAACATGGAAAAAAATTGTGTAGTGAAGCCAACAGTGGACTTAGGATGGGATTGAATGTTCAGTATAGTGATCTCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTTTATTGTTTTTTCCTCGCCCATATTCAGTTTTGTTCTACTTCCTCCCCTTCCTTCCAGATGATAACATCACATCTCTACAGTAAGTGCCTCTGCCAGCCCAACCCAGGAGCGCAAGTTGTCTTTGCCATCTGGTCTATAGTACAGTGCGCGGCGTTAGGCCACAACTCAAAAGCATTATCTTTTTTAGGGTTAGTAGAAATTGTTTTATGTTGATGGGAGGTTTGTTTGATTGTCAAAATGTACAGCCACAGCCTTTTAATTTGGGAGCCCCTGTTGTCATTCAAATGTGTACCTCTACAGTTGTAAAAAGTATTAGATTCTACTATCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATTGTATATTTTTTGGAAAAGTTTATATACTCTCTTAGGAATCATTGTGAAAAGATCAAGAAATCAGGATGGCCATTTATTTAATATCCATTCATTTCATGTTAGTGGGACTATTAACTTGTCACCAAGCAGGACTCTATTTCAAACAAAATTTAAAACTGTTTGTGGCCTATATGTGTTTAATCCTGGTTAAAGATAAAGCTTCATAATGCTGTTTTTATTCAACACATTAACCAGCTGTAAAACACAGACCTTTATCAAGAGTAGGCAAAGATTTTCAGGATTCATATACAGATAGACTATAAAGTCATGTAATTTGAAAAGCAGTGTTTCATTATGAAAGAGCTCTCAAGTTGCTTGTAAAGCTAATCTAATTAAAAAGATGTATAAATGTTGTTGAAA |