KEGG   Homo sapiens (human): 54583
Entry
54583             CDS       T01001                                 
Symbol
EGLN1, C1orf12, ECYT3, HALAH, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6
Name
(RefSeq) egl-9 family hypoxia inducible factor 1
  KO
K09592  hypoxia-inducible factor prolyl hydroxylase [EC:1.14.11.29]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04066  HIF-1 signaling pathway
hsa05200  Pathways in cancer
hsa05211  Renal cell carcinoma
Network
nt06542  HIF signaling
  Element
N01871  Hydroxylation of HIF
Disease
H00236  Congenital polycythemia
Drug target
Daprodustat: D10874<JP/US>
Enarodustat: D11523<JP>
Molidustat (DG03157): D11273<JP> D12122
Roxadustat: D10593<JP>
Vadadustat: D11078<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04066 HIF-1 signaling pathway
    54583 (EGLN1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    54583 (EGLN1)
  09162 Cancer: specific types
   05211 Renal cell carcinoma
    54583 (EGLN1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.11  With 2-oxoglutarate as one donor, and incorporation of one atom of oxygen into each donor
    1.14.11.29  hypoxia-inducible factor-proline dioxygenase
     54583 (EGLN1)
SSDB
Motif
Pfam: 2OG-FeII_Oxy_3 zf-MYND 2OG-FeII_Oxy_4 zf-Mss51
Other DBs
NCBI-GeneID: 54583
NCBI-ProteinID: NP_071334
OMIM: 606425
HGNC: 1232
Ensembl: ENSG00000135766
UniProt: Q9GZT9 R4SCQ0
Structure
LinkDB
Position
1:complement(231363756..231422287)
AA seq 426 aa
MANDSGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCKEHQRQDWKKHKLVCQG
SEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADP
AAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKANLYPPSNTPGDALSPGGGLR
PNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKETGQQIGDEVRALHDTGKFTDGQL
VSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSMDDLIRHCNGKLGSYKINGRTKAMV
ACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKF
DRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDS
VGKDVF
NT seq 1281 nt   +upstreamnt  +downstreamnt
atggccaatgacagcggcgggcccggcgggccgagcccgagcgagcgagaccggcagtac
tgcgagctgtgcgggaagatggagaacctgctgcgctgcagccgctgccgcagctccttc
tactgctgcaaggagcaccagcgtcaggactggaagaagcacaagctcgtgtgccagggc
agcgagggcgccctcggccacggagtgggcccacaccagcattccggccccgcgccgccg
gctgcagtgccgccgcccagggccggggcccgggagcccaggaaggcagcggcgcgccgg
gacaacgcctccggggacgcggccaagggaaaagtaaaggccaagcccccggccgaccca
gcggcggccgcgtcgccgtgtcgtgcggccgccggcggccagggctcggcggtggctgcc
gaagccgagcccggcaaggaggagccgccggcccgctcatcgctgttccaggagaaggcg
aacctgtaccccccaagcaacacgcccggggatgcgctgagccccggcggcggcctgcgg
cccaacgggcagacgaagcccctgccggcgctgaagctggcgctcgagtacatcgtgccg
tgcatgaacaagcacggcatctgtgtggtggacgacttcctcggcaaggagaccggacag
cagatcggcgacgaggtgcgcgccctgcacgacaccgggaagttcacggacgggcagctg
gtcagccagaagagtgactcgtccaaggacatccgaggcgataagatcacctggatcgag
ggcaaggagcccggctgcgaaaccattgggctgctcatgagcagcatggacgacctgata
cgccactgtaacgggaagctgggcagctacaaaatcaatggccggacgaaagccatggtt
gcttgttatccgggcaatggaacgggttatgtacgtcatgttgataatccaaatggagat
ggaagatgtgtgacatgtatatattatcttaataaagactgggatgccaaggtaagtgga
ggtatacttcgaatttttccagaaggcaaagcccagtttgctgacattgaacccaaattt
gatagactgctgtttttctggtctgaccgtcgcaaccctcatgaagtacaaccagcatat
gctacaaggtacgcaataactgtttggtattttgatgcagatgagagagcacgagctaaa
gtaaaatatctaacaggtgaaaaaggtgtgagggttgaactcaataaaccttcagattcg
gtcggtaaagacgtcttctag

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