Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
112399 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Egl-9 family hypoxia inducible factor 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
EGLN3 |
SynonymsGene synonyms aliases
|
HIFP4H3, HIFPH3, PHD3 |
ChromosomeChromosome number
|
14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
14q13.1 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
HIF1A |
Unknown |
15156561 |
STAT6 |
Unknown |
18342537 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001666 |
Process |
Response to hypoxia |
IEP |
20978507 |
GO:0005515 |
Function |
Protein binding |
IPI |
15721254, 16511565, 17353276, 19584355, 20849813, 21575608, 21620138, 21988832, 22286099, 25416956, 26972000, 31515488, 32296183 |
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
IDA |
12615973 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
12615973 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006915 |
Process |
Apoptotic process |
IEP |
20978507 |
GO:0006919 |
Process |
Activation of cysteine-type endopeptidase activity involved in apoptotic process |
IEP |
20978507 |
GO:0006974 |
Process |
Cellular response to DNA damage stimulus |
IEA |
|
GO:0008198 |
Function |
Ferrous iron binding |
IBA |
21873635 |
GO:0016706 |
Function |
2-oxoglutarate-dependent dioxygenase activity |
IDA |
22955912 |
GO:0018126 |
Process |
Protein hydroxylation |
IDA |
19584355 |
GO:0018401 |
Process |
Peptidyl-proline hydroxylation to 4-hydroxy-L-proline |
IBA |
21873635 |
GO:0018401 |
Process |
Peptidyl-proline hydroxylation to 4-hydroxy-L-proline |
IDA |
11598268 |
GO:0031418 |
Function |
L-ascorbic acid binding |
IEA |
|
GO:0031543 |
Function |
Peptidyl-proline dioxygenase activity |
IBA |
21873635 |
GO:0031545 |
Function |
Peptidyl-proline 4-dioxygenase activity |
EXP |
12615973, 12788921, 22286099 |
GO:0031545 |
Function |
Peptidyl-proline 4-dioxygenase activity |
IBA |
21873635 |
GO:0031545 |
Function |
Peptidyl-proline 4-dioxygenase activity |
IDA |
11598268 |
GO:0042127 |
Process |
Regulation of cell population proliferation |
IEP |
20978507 |
GO:0043523 |
Process |
Regulation of neuron apoptotic process |
ISS |
|
GO:0061418 |
Process |
Regulation of transcription from RNA polymerase II promoter in response to hypoxia |
TAS |
|
GO:0071456 |
Process |
Cellular response to hypoxia |
IBA |
21873635 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q9H6Z9 |
Protein name |
Prolyl hydroxylase EGLN3 (EC 1.14.11.-) (Egl nine homolog 3) (EC 1.14.11.29) (HPH-1) (Hypoxia-inducible factor prolyl hydroxylase 3) (HIF-PH3) (HIF-prolyl hydroxylase 3) (HPH-3) (Prolyl hydroxylase domain-containing protein 3) (PHD3) |
Protein function |
Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as PKM, TELO2, ATF4 and HIF1A (PubMed:19584355, PubMed:20978507, PubMed:21483450, PubMed:21575608, PubMed:21620138, PubMed:22797300). Target proteins are |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13640 |
2OG-FeII_Oxy_3 |
120 → 213 |
2OG-Fe(II) oxygenase superfamily |
Domain |
|
Sequence |
|
Sequence length |
239 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
27903959 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Liver neoplasms |
Liver neoplasms |
|
28108177 |
Liver cancer |
Malignant neoplasm of liver |
|
28108177 |
|