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

    Gene ID: 112399, updated on 2-Nov-2024

    Summary

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    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

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    See EGLN3 in Genome Data Viewer
    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_000014.9Genomic Context describing neighboring genes Neighboring gene neuronal PAS domain protein 3 Neighboring gene uncharacterized LOC124903300 Neighboring gene Sharpr-MPRA regulatory region 868 Neighboring gene small nucleolar RNA, H/ACA box 89 Neighboring gene Sharpr-MPRA regulatory region 9495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:34366891-34367394 Neighboring gene GATA motif-containing MPRA enhancer 110 Neighboring gene NANOG hESC enhancer GRCh37_chr14:34400622-34401183 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:34407170-34408141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5660 Neighboring gene uncharacterized LOC102724945 Neighboring gene uncharacterized LOC105370446 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:34433111-34433612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8245 Neighboring gene Sharpr-MPRA regulatory region 12661 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:34512642-34513841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8247 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:34529023-34529524 Neighboring gene EGLN3 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. PHD3 Controls Lung Cancer Metastasis and Resistance to EGFR Inhibitors through TGFα. Dopeso H, et al. Cancer Res, 2018 Apr 1. PMID 29339541
    2. Expression of hypoxia-inducible factor prolyl hydroxylase 3 HIFPH3 in human non-small cell lung cancer (NSCLC) and its correlation with prognosis. Chu X, et al. Asian Pac J Cancer Prev, 2014. PMID 25081707
    3. PHD3-mediated prolyl hydroxylation of nonmuscle actin impairs polymerization and cell motility. Luo W, et al. Mol Biol Cell, 2014 Sep 15. PMID 25079693, Free PMC Article
    4. Hypoxia-inducible factor (HIF)-independent expression mechanism and novel function of HIF prolyl hydroxylase-3 in renal cell carcinoma. Tanaka T, et al. J Cancer Res Clin Oncol, 2014 Mar. PMID 24477694
    5. Prolyl-4-hydroxylase 3 (PHD3) expression is downregulated during epithelial-to-mesenchymal transition. Place TL, et al. PLoS One, 2013. PMID 24367580, Free PMC Article

    See all (139) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. PHD3 Loss Promotes Exercise Capacity and Fat Oxidation in Skeletal Muscle.
      Title: PHD3 Loss Promotes Exercise Capacity and Fat Oxidation in Skeletal Muscle.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (87)

    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21620, MGC125998, MGC125999

    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 activation of cysteine-type endopeptidase activity involved in apoptotic process IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    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 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
    NP_071356.1

    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)

    1. 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

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      33924227..33951074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      28121430..28148293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6Z9.1 GenPept UniProtKB/Swiss-Prot:Q9H6Z9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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