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

Gene ID: 112399, updated on 9-Apr-2019

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
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
Expression
Broad expression in skin (RPKM 31.3), heart (RPKM 27.7) and 16 other tissues See more
Orthologs

Genomic context

See EGLN3 in Genome Data Viewer
Location:
14q13.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (33924215..33951078, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (34393421..34420284, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene neuronal PAS domain protein 3 Neighboring gene small nucleolar RNA, H/ACA box 89 Neighboring gene GATA motif-containing MPRA enhancer 110 Neighboring gene uncharacterized LOC107987210 Neighboring gene uncharacterized LOC105370446 Neighboring gene uncharacterized LOC102724945 Neighboring gene EGLN3 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21620, MGC125998, MGC125999

Gene Ontology Provided by GOA

Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process IEP
Inferred from Expression Pattern
more info
PubMed 
apoptotic process IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA
Inferred from Direct Assay
more info
PubMed 
protein hydroxylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell proliferation IEP
Inferred from Expression Pattern
more info
PubMed 
regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
response to hypoxia IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
egl nine homolog 3
Names
HIF-PH3
HIF-prolyl hydroxylase 3
HPH-1
HPH-3
egl nine-like protein 3 isoform
hypoxia-inducible factor prolyl hydroxylase 3
prolyl hydroxylase domain-containing protein 3
NP_001295032.1
NP_071356.1

NCBI Reference Sequences (RefSeq)

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_001308103.1NP_001295032.1  egl nine homolog 3 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/Swiss-Prot
    Q9H6Z9
    UniProtKB/TrEMBL
    B3KVT0, F8W1G2, Q3T1B0
    Related
    ENSP00000447470.1, ENST00000553215.5
    Conserved Domains (1) summary
    smart00702
    Location:24119
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  2. NM_022073.3NP_071356.1  egl nine homolog 3 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
    Q9H6Z9
    Related
    ENSP00000250457.3, ENST00000250457.7
    Conserved Domains (1) summary
    smart00702
    Location:36213
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    33924215..33951078 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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