Functions and Diseases

RBP Type Canonical_RBPs
Diseases N.A.
Drug Drug
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000129521 Gene ID 112399 Accession 14661
Symbol EGLN3 Alias PHD3;HIFPH3;HIFP4H3 Full Name egl-9 family hypoxia inducible factor 3
Status Confidence Length 298651 bases Strand Minus strand
Position 14 : 33924227 - 34222877 RNA binding domain 2OG-FeII_Oxy
Summary Enables peptidyl-proline 4-dioxygenase activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; peptidyl-proline hydroxylation to 4-hydroxy-L-proline; and response to hypoxia. Located in cytosol and nucleus. Implicated in renal cell carcinoma. Biomarker of clear cell renal cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000447470 2OG-FeII_Oxy PF03171 1.9e-05 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
EGLN3-201 ENST00000250457 2706 239aa ENSP00000250457
EGLN3-209 ENST00000553215 1004 145aa ENSP00000447470
EGLN3-210 ENST00000556785 864 No protein -
EGLN3-203 ENST00000487915 848 79aa ENSP00000451316
EGLN3-205 ENST00000547327 2849 148aa ENSP00000446572
EGLN3-207 ENST00000550114 566 No protein -
EGLN3-208 ENST00000551935 575 No protein -
EGLN3-206 ENST00000548285 535 No protein -
EGLN3-204 ENST00000546681 581 No protein -
EGLN3-202 ENST00000464521 352 No protein -
EGLN3-211 ENST00000557521 658 No protein -

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
6448Fibrinogen5.07816651189167E-517903294
6464Fibrinogen2.38174494351447E-617903294
8497Varicose Veins8.3543782868123E-5-
10782Osteoporosis6.49678632189676E-517903295
11587Mental Competency1.84886412635623E-617903295
15931Stroke5.5631319E-00519369658
16872Neuroblastoma1.71e-00523222812
23879Waist-Hip Ratio4.4450000E-006-
25328Waist-Hip Ratio1.0540000E-005-
30420Basophils4.4380000E-005-
36970Platelet Function Tests1.1900000E-007-
39318Platelet Function Tests4.7000000E-007-
49937Child Development Disorders, Pervasive6.5441600E-005-
49938Child Development Disorders, Pervasive1.4527000E-005-
51379Child Development Disorders, Pervasive6.0145500E-005-
51380Child Development Disorders, Pervasive1.0189500E-005-
55705alpha-carotene4.5640000E-006-
55715alpha-carotene2.8980000E-006-
59269Taste Perception3.2450000E-005-
62918Age-Related Hearing Impairment 18E-624939585
695363-hydroxy-1-methylpropylmercapturic acid3E-626053186
69537Smoking3E-626053186
79849Rest8E-727126917
101925Celiac Disease4E-623936387

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0001666involved_in response to hypoxia1IEPHomo_sapiens(9606)Process
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634is_active_in nucleus2IBA,IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm1TASHomo_sapiens(9606)Component
GO:0005737is_active_in cytoplasm2IBA,IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol2IDA,TASHomo_sapiens(9606)Component
GO:0006915involved_in apoptotic process1IEPHomo_sapiens(9606)Process
GO:0006919involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process1IEPHomo_sapiens(9606)Process
GO:0006974involved_in DNA damage response1IEAHomo_sapiens(9606)Process
GO:0008198enables ferrous iron binding1IBAHomo_sapiens(9606)Function
GO:0016706enables 2-oxoglutarate-dependent dioxygenase activity1IDAHomo_sapiens(9606)Function
GO:0018126involved_in protein hydroxylation1IDAHomo_sapiens(9606)Process
GO:0018401involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline2IBA,IDAHomo_sapiens(9606)Process
GO:0031418enables L-ascorbic acid binding1IEAHomo_sapiens(9606)Function
GO:0031545enables peptidyl-proline 4-dioxygenase activity2IBA,IDAHomo_sapiens(9606)Function
GO:0042127involved_in regulation of cell population proliferation1IEPHomo_sapiens(9606)Process
GO:0043523involved_in regulation of neuron apoptotic process1ISSHomo_sapiens(9606)Process
GO:0071456involved_in cellular response to hypoxia1IBAHomo_sapiens(9606)Process

Expression