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

Gene ID: 112399, updated on 22-May-2016
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 HPRD:06972; MIM:606426; Vega:OTTHUMG00000029498
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
Orthologs
Location:
14q13.1
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (33924215..33951083, 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 uncharacterized LOC105370443 Neighboring gene uncharacterized LOC105370442 Neighboring gene uncharacterized LOC102724945 Neighboring gene uncharacterized LOC105370446 Neighboring gene EGLN3 antisense RNA 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
egl nine homolog 3
Names
HIF prolyl hydroxylase 3
HIF-PH3
HIF-prolyl hydroxylase 3
HPH-1
HPH-3
egl nine-like protein 3 isoform
egl-9 family hypoxia-inducible factor 3
hypoxia-inducible factor prolyl hydroxylase 3
prolyl hydroxylase domain-containing protein 3
NP_071356.1

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
    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, OTTHUMP00000178814, ENST00000250457, OTTHUMT00000276647
    Conserved Domains (1) summary
    smart00702
    Location:36213
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    33924215..33951083 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720015.2XP_006720078.1  

    Related
    ENSP00000447470, OTTHUMP00000243967, ENST00000553215, OTTHUMT00000409485
    Conserved Domains (1) summary
    smart00702
    Location:24119
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    34391710..34418579 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)