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

Gene ID: 112399, updated on 23-Nov-2021

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
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Genomic context

See EGLN3 in Genome Data Viewer
Location:
14q13.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (33924227..33951074, complement)
105.20201022 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 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 Sharpr-MPRA regulatory region 2297 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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables peptidyl-proline 4-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables peptidyl-proline 4-dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables peptidyl-proline dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001308103.2NP_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/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_022073.4NP_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
    Q9H6Z9
    Related
    ENSP00000250457.4, ENST00000250457.9
    Conserved Domains (1) summary
    smart00702
    Location:36213
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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