Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

54583

Name

EGLN1

Synonym

C1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6;egl-9 family hypoxia-inducible factor 1;EGLN1;egl-9 family hypoxia-inducible factor 1

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

TSG scores

Description

TUSON ranking

6373

TUSON P-value

1

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

The sequences provided here are only the longest representative sequences, not covering all the isoforms.

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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