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
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
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Drug (6)   
   KEGG DRUG (6)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (47)   
   KEGG ORTHOLOGY (1)   
   RefGene (41)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (8)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (25)   
   RefSeq(nuc) (5)   
   GenBank (10)   
   EMBL (10)   
3D Structure (50)   
   PDB (50)   
Protein domain (4)   
   Pfam (4)   
All databases (151)   

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