Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

54583

Name

EGLN1

Synonym

C1orf12|ECYT3|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6;egl nine homolog 1 (C. elegans);EGLN1;egl nine homolog 1 (C. elegans)

Definition

HIF prolyl hydroxylase 2|HIF-prolyl hydroxylase 2|egl nine homolog 1|egl nine-like protein 1|hypoxia-inducible factor prolyl hydroxylase 2|prolyl hydroxylase domain-containing protein 2|zinc finger MYND domain-containing protein 6

Position

1q42.1

Gene Type

protein-coding

Source

Count: 1; Generif

Literature support

Count: 2 PubMed records as below.

Evidence Status

Description

potential

Data suggest that PHD2/HIF-2/amphiregulin signaling has a critical role in the regulation of breast tumor progression and propose PHD2 as a potential tumor suppressor in breast cancer.

potential

"EGLN1 can be considered as a candidate tumor suppressor on chromosome 1q, and our observation could open the new aspect in exploring the machinery of senescence induction associated with hypoxia-inducible factor 1, alpha signal transduction".
More detail of all 2 literatures about EGLN1

Pathways and Diseases

Pathway

Hypoxia response via HIF activation;PANTHER;P00030

Pathway

Pathways in cancer;KEGG PATHWAY;hsa05200

Pathway

Renal cell carcinoma;KEGG PATHWAY;hsa05211

Pathway

HIF-1-alpha transcription factor network;PID Curated;200172

Disease

Hematologic diseases;KEGG DISEASE

Disease

Congenital polycythemia;KEGG DISEASE;H00236

Disease

Erythrocytosis, familial, 3;OMIM

Disease

Circulatory system diseases;KEGG DISEASE

External Links

Links to Entrez Gene

54583

Links to all GeneRIF Items

54583

Links to iHOP

54583

Sequence Information

Nucleotide Sequence

>54583 : length: 1281
atggccaatgacagcggcgggcccggcgggccgagcccgagcgagcgagaccggcagtac
tgcgagctgtgcgggaagatggagaacctgctgcgctgcagccgctgccgcagctccttc
tactgctgcaaggagcaccagcgtcaggactggaagaagcacaagctcgtgtgccagggc
agcgagggcgccctcggccacggagtgggcccacaccagcattccggccccgcgccgccg
gctgcagtgccgccgcccagggccggggcccgggagcccaggaaggcagcggcgcgccgg
gacaacgcctccggggacgcggccaagggaaaagtaaaggccaagcccccggccgaccca
gcggcggccgcgtcgccgtgtcgtgcggccgccggcggccagggctcggcggtggctgcc
gaagccgagcccggcaaggaggagccgccggcccgctcatcgctgttccaggagaaggcg
aacctgtaccccccaagcaacacgcccggggatgcgctgagccccggcggcggcctgcgg
cccaacgggcagacgaagcccctgccggcgctgaagctggcgctcgagtacatcgtgccg
tgcatgaacaagcacggcatctgtgtggtggacgacttcctcggcaaggagaccggacag
cagatcggcgacgaggtgcgcgccctgcacgacaccgggaagttcacggacgggcagctg
gtcagccagaagagtgactcgtccaaggacatccgaggcgataagatcacctggatcgag
ggcaaggagcccggctgcgaaaccattgggctgctcatgagcagcatggacgacctgata
cgccactgtaacgggaagctgggcagctacaaaatcaatggccggacgaaagccatggtt
gcttgttatccgggcaatggaacgggttatgtacgtcatgttgataatccaaatggagat
ggaagatgtgtgacatgtatatattatcttaataaagactgggatgccaaggtaagtgga
ggtatacttcgaatttttccagaaggcaaagcccagtttgctgacattgaacccaaattt
gatagactgctgtttttctggtctgaccgtcgcaaccctcatgaagtacaaccagcatat
gctacaaggtacgcaataactgtttggtattttgatgcagatgagagagcacgagctaaa
gtaaaatatctaacaggtgaaaaaggtgtgagggttgaactcaataaaccttcagattcg
gtcggtaaagacgtcttctag

Protein Sequence

>54583 : length: 426
MANDSGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCKEHQRQDWKKHKLVCQG
SEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADP
AAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKANLYPPSNTPGDALSPGGGLR
PNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKETGQQIGDEVRALHDTGKFTDGQL
VSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSMDDLIRHCNGKLGSYKINGRTKAMV
ACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKF
DRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDS
VGKDVF



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