EGLN3 egl-9 family hypoxia inducible factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EGLN3provided by HGNC
Official Full Name: egl-9 family hypoxia inducible factor 3provided by HGNC
Primary source: HGNC:HGNC:14661
See related: Ensembl:ENSG00000129521 MIM:606426; AllianceGenome:HGNC:14661
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PHD3; HIFPH3; HIFP4H3
Summary: Enables peptidyl-proline 4-dioxygenase activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; protein hydroxylation; 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, Nov 2024]
Expression: Broad expression in skin (RPKM 31.3), heart (RPKM 27.7) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q13.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (33924227..33951074, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (28121430..28148293, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (34393433..34420280, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Endothelial EGLN3-PKM2 signaling induces the formation of acute astrocytic barrier to alleviate immune cell infiltration after subarachnoid hemorrhage.
Title: Endothelial EGLN3-PKM2 signaling induces the formation of acute astrocytic barrier to alleviate immune cell infiltration after subarachnoid hemorrhage.
Low nuclear expression of HIF-hydroxylases PHD2/EGLN1 and PHD3/EGLN3 are associated with poor recurrence-free survival in clear cell renal cell carcinoma.
Title: Low nuclear expression of HIF-hydroxylases PHD2/EGLN1 and PHD3/EGLN3 are associated with poor recurrence-free survival in clear cell renal cell carcinoma.
EGLN3 attenuates gastric cancer cell malignant characteristics by inhibiting JMJD8/NF-kappaB signalling activation independent of hydroxylase activity.
Title: EGLN3 attenuates gastric cancer cell malignant characteristics by inhibiting JMJD8/NF-κB signalling activation independent of hydroxylase activity.
E3 ligase MAEA-mediated ubiquitination and degradation of PHD3 promotes glioblastoma progression.
Title: E3 ligase MAEA-mediated ubiquitination and degradation of PHD3 promotes glioblastoma progression.
PHD3 as a Prognosis Marker and its Relationship with Immune Infiltration in Lung Adenocarcinoma.
Title: PHD3 as a Prognosis Marker and its Relationship with Immune Infiltration in Lung Adenocarcinoma.
Inactivation of EGLN3 hydroxylase facilitates Erk3 degradation via autophagy and impedes lung cancer growth.
Title: Inactivation of EGLN3 hydroxylase facilitates Erk3 degradation via autophagy and impedes lung cancer growth.
PHD3 Loss Promotes Exercise Capacity and Fat Oxidation in Skeletal Muscle.
Title: PHD3 Loss Promotes Exercise Capacity and Fat Oxidation in Skeletal Muscle.
USP9X promotes apoptosis in cholangiocarcinoma by modulation expression of KIF1Bbeta via deubiquitinating EGLN3.
Title: USP9X promotes apoptosis in cholangiocarcinoma by modulation expression of KIF1Bβ via deubiquitinating EGLN3.
Development of a colorimetric alpha-ketoglutarate detection assay for prolyl hydroxylase domain (PHD) proteins.
Title: Development of a colorimetric α-ketoglutarate detection assay for prolyl hydroxylase domain (PHD) proteins.
Decreased prolyl hydroxylase 3 mRNA expression in oncocytomas compared with clear cell renal cell carcinoma.
Title: Decreased prolyl hydroxylase 3 mRNA expression in oncocytomas compared with clear cell renal cell carcinoma.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486445

RH93914 (e-PCR)
- UniSTS:92474

RH69722 (e-PCR)
- UniSTS:57963

RH80356 (e-PCR)
- UniSTS:92852

RH93981 (e-PCR)
- UniSTS:87017

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables hypoxia-inducible factor-proline dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables peptidyl-proline 4-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidyl-proline 4-dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cysteine-type endopeptidase activity	IEP Inferred from Expression Pattern more info	PubMed
involved_in protein hydroxylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell population proliferation	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: prolyl hydroxylase EGLN3

Names: HIF-PH3; HIF-prolyl hydroxylase 3; HPH-1; HPH-3; hypoxia-inducible factor prolyl hydroxylase 3; prolyl hydroxylase domain-containing protein 3

NP_001295032.1

EC 1.14.11.29

NP_071356.1

EC 1.14.11.29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001308103.2 → NP_001295032.1 prolyl hydroxylase EGLN3 isoform 2

See identical proteins and their annotated locations for NP_001295032.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which lacks a portion of the 5' coding region compared to isoform 1.

Source sequence(s)

AJ310545, AK123350, AL358340, BC102030, BX091357

Consensus CDS

CCDS76671.1

UniProtKB/TrEMBL

F8W1G2, Q3T1B0

Related

ENSP00000447470.1, ENST00000553215.5

Conserved Domains (1) summary

smart00702
Location:24 → 119

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
NM_022073.4 → NP_071356.1 prolyl hydroxylase EGLN3 isoform 1

See identical proteins and their annotated locations for NP_071356.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK025273, AL358340

Consensus CDS

CCDS9646.1

UniProtKB/Swiss-Prot

Q2TA79, Q3B8N4, Q6P1R2, Q9H6Z9

UniProtKB/TrEMBL

B3KVT0

Related

ENSP00000250457.4, ENST00000250457.9

Conserved Domains (1) summary

smart00702
Location:36 → 213

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues