KEGG T01001: 54583

Homo sapiens (human): 54583

Entry

54583 CDS T01001

Gene name

EGLN1, C1orf12, ECYT3, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6

Definition

egl nine homolog 1 (C. elegans) (EC:1.14.11.29)

Orthology

K09592

hypoxia-inducible factor prolyl hydroxylase [EC:1.14.11.-]

Organism

hsa Homo sapiens (human)

Pathway

hsa04066	HIF-1 signaling pathway
hsa05200	Pathways in cancer
hsa05211	Renal cell carcinoma

Disease

H00236

Congenital polycythemia

Class

Environmental Information Processing; Signal transduction; HIF-1 signaling pathway [PATH:hsa04066]
Human Diseases; Cancers; Pathways in cancer [PATH:hsa05200]
Human Diseases; Cancers; Renal cell carcinoma [PATH:hsa05211]

SSDB

Motif

Pfam:

2OG-FeII_Oxy_3 zf-MYND 2OG-FeII_Oxy 2OG-FeII_Oxy_4 zf-Mss51

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2HBT 3OUI 2G19 2HBU 2Y33 3HQR 2Y34 4KBZ 2G1M 3OUJ 3HQU 3OUH

Position

1q42.1

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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (8)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (21)   
   RefSeq(nuc) (1)   
   GenBank (10)   
   EMBL (10)   
3D Structure (11)   
   PDB (11)   
Protein domain (5)   
   Pfam (5)   
All databases (63)   

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