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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EGLN1 Gene

protein-coding   GIFtS: 64
GCID: GC01M231499

Egl-9 Family Hypoxia-Inducible Factor 1

(Previous names: EGL nine (C.elegans) homolog 1, egl nine homolog 1 (C. elegans))
(Previous symbol: C1orf12)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Egl-9 Family Hypoxia-Inducible Factor 11 2     SM202 5
C1orf121 2 3 5     ZMYND62 5
PHD22 3 5     EGL Nine (C.Elegans) Homolog 11
HIF Prolyl Hydroxylase 21 2     Egl Nine Homolog 1 (C. Elegans)1
Hypoxia-Inducible Factor Prolyl Hydroxylase 22 3     HPH22
Prolyl Hydroxylase Domain-Containing Protein 22 3     Egl Nine Homolog 12
HIF-PH22 3     Egl Nine-Like Protein 12
HPH-22 3     Zinc Finger MYND Domain-Containing Protein 62
HIF-Prolyl Hydroxylase 22 3     EC 1.14.11.293
ECYT32 5     SM-203
HIFPH22 5     EC 1.14.118

External Ids:    HGNC: 12321   Entrez Gene: 545832   Ensembl: ENSG000001357667   OMIM: 6064255   UniProtKB: Q9GZT93   

Export aliases for EGLN1 gene to outside databases

Previous GC identifers: GC01M229945 GC01M227239 GC01M227972 GC01M228536 GC01M228534 GC01M227806 GC01M229566 GC01M201982


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EGLN1 Gene:
The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in
hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in
mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen
concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for
proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated
with erythrocytosis familial type 3 (ECYT3). (provided by RefSeq, Nov 2009)

GeneCards Summary for EGLN1 Gene: 
EGLN1 (egl-9 family hypoxia-inducible factor 1) is a protein-coding gene. Diseases associated with EGLN1 include familial erythrocytosis 3, and hypoxia, and among its related super-pathways are Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha and Development HGF signaling pathway. GO annotations related to this gene include L-ascorbic acid binding and iron ion binding. An important paralog of this gene is EGLN2.

UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9
Function: Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of
4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each
of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also
hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then
targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions,
the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to
the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most
important isozyme under normoxia and, through regulating the stability of HIF1, involved in various
hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality

Gene Wiki entry for EGLN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EGLN1 gene promoter:
         AhR   MAZR   AP-1   NRSF form 1   ATF-2   Nkx5-1   NRSF form 2   Arnt   COMP1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EGLN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EGLN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EGLN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42.1   Ensembl cytogenetic band:  1q42.2   HGNC cytogenetic band: 1q42.1

EGLN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EGLN1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M231499:  view genomic region     (about GC identifiers)

Start:
231,499,497 bp from pter      End:
231,560,790 bp from pter
Size:
61,294 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9 (See protein sequence)
Recommended Name: Egl nine homolog 1  
Size: 426 amino acids; 46021 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Cofactor: Ascorbate
Subunit: Monomer. Interacts with ING4; the interaction inhibits the hydroxylation of HIFs. Interacts with LIMD1.
Found in a complex composed of LIMD1, VHL, EGLN1/PHD2, TCEB2 AND CUL2. Interacts with EPAS1
Subcellular location: Cytoplasm. Nucleus. Note=Mainly cytoplasmic. Shuttles between the nucleus and cytoplasm.
Nuclear export requires functional XPO1
Caution: It was previously reported that this protein was the ortholog of rat SM-20. However, EGLN3 is now
considered the true ortholog of rat SM-20 since it shows substantially greater similarity
Sequence caution: Sequence=AAK07534.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAK07536.1; Type=Frameshift; Positions=239;
6/12 PDB 3D structures from and Proteopedia for EGLN1 (see all 12):
2G19 (3D)        2G1M (3D)        2HBT (3D)        2HBU (3D)        2Y33 (3D)        2Y34 (3D)    
Secondary accessions: Q8N3M8 Q9BZS8 Q9BZT0
Alternative splicing: 3 isoforms:  Q9GZT9-1   Q9GZT9-2   Q9GZT9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EGLN1: NX_Q9GZT9

Explore proteomics data for EGLN1 at MOPED 

Post-translational modifications:

  • UniProtKB: S-nitrosylation inhibits the enzyme activity up to 60% under aerobic conditions. Chelation of Fe(2+) has no effect
    on the S-nitrosylation. It is uncertain whether nitrosylation occurs on Cys-323 or Cys-326
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9GZT9

  • 4/5 DME Specific Peptides for EGLN1 (Q9GZT9) (see all 5)
     TVWYFDA  ALEYIVPC  GYVRHVDNP  INGRTKAMVACYPGNG 

    EGLN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EGLN1 Protein Expression
    REFSEQ proteins: NP_071334.1  
    ENSEMBL proteins: 
     ENSP00000355601  
    Reactome Protein details: Q9GZT9
    Human Recombinant Protein Products for EGLN1: 
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    Novus Biologicals EGLN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EGLN1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA12615973
    GO:0005829cytosol TAS--

    EGLN1 for ontologies           About GeneDecksing



    EGLN1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of EGLN1
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    Abcam antibodies for EGLN1
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    ThermoFisher Antibody for EGLN1
    LSBio Antibodies in human, mouse, rat for EGLN1 

    Assay Products for EGLN1: 
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    Cloud-Clone Corp. CLIAs for EGLN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZMYND: Zinc fingers, MYND-type

    3 InterPro protein domains:
     IPR002893 Znf_MYND
     IPR006620 Pro_4_hyd_alph
     IPR005123 Oxoglu/Fe-dep_dioxygenase

    Graphical View of Domain Structure for InterPro Entry Q9GZT9

    ProtoNet protein and cluster: Q9GZT9

    1 Blocks protein domain: IPB002893 Zn-finger

    UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9
    Domain: The beta(2)beta(3) 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivity
    Similarity: Contains 1 Fe2OG dioxygenase domain
    Similarity: Contains 1 MYND-type zinc finger


    EGLN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EGLN1_HUMAN, Q9GZT9
    Function: Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of
    4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each
    of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also
    hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then
    targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions,
    the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to
    the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most
    important isozyme under normoxia and, through regulating the stability of HIF1, involved in various
    hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality
    Catalytic activity: Hypoxia-inducible factor-L-proline + 2-oxoglutarate + O(2) = hypoxia-inducible
    factor-trans-4-hydroxy-L-proline + succinate + CO(2)
    Enzyme regulation: Following exposure to hypoxia, activated in HeLa cells but not in cardiovascular cells

         Enzyme Numbers (IUBMB): EC 1.14.112 EC 1.14.11.291

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI15721254
    GO:0008270zinc ion binding ----
    GO:0016491oxidoreductase activity ----
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
         
    EGLN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EGLN1:
     Increased S DNA content 

         13 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Egln1):
     cardiovascular system  cellular  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     muscle  renal/urinary system  respiratory system 

    EGLN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EGLN1: Egln1tm1Fong Egln1tm1.2Brei Egln1tm1Pec Egln1tm1.1Kael

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EGLN1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EGLN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EGLN1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EGLN1
    8/73 QIAGEN miScript miRNA Assays for microRNAs that regulate EGLN1 (see all 73):
    hsa-miR-607 hsa-miR-520e hsa-miR-15a hsa-miR-106a hsa-miR-200a hsa-miR-93 hsa-miR-376a* hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidEGLN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: EGLN1 (NM_022051)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EGLN1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cellular response to hypoxia
    Cellular response to hypoxia0.72
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.72
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    Cellular responses to stress0.72
    2Development HGF signaling pathway
    Renal cell carcinoma0.30
    3Pathways in cancer
    Pathways in cancer
    4HIF1Alpha Pathway
    HIF1Alpha Pathway
    5HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for EGLN1
        HIF1Alpha Pathway

    2 Cell Signaling Technology (CST) Pathways for EGLN1
        Translational Control
    Angiogenesis

    2 BioSystems Pathways for EGLN1
        HIF-1-alpha transcription factor network
    HIF-2-alpha transcription factor network

    4        Reactome Pathways for EGLN1
        Cellular response to hypoxia
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Cellular responses to stress


    3         Kegg Pathways  (Kegg details for EGLN1):
        HIF-1 signaling pathway
    Pathways in cancer
    Renal cell carcinoma


    EGLN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EGLN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/42 Interacting proteins for EGLN1 (Q9GZT91, 2, 3 ENSP000003556014) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA16956324
    GO:0018401peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA11598268
    GO:0030821negative regulation of cAMP catabolic process ISS--
    GO:0032364oxygen homeostasis IDA16956324
    GO:0043433negative regulation of sequence-specific DNA binding transcription factor activity IDA16956324

    EGLN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EGLN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EGLN1

    3 HMDB Compounds for EGLN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    Hydroxyproline(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid (see all 21)51-35-4--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--

    3 DrugBank Compounds for EGLN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin CAscorbate (see all 6)50-81-7target--17139284 17016423
    N-[(1-CHLORO-4-HYDROXYISOQUINOLIN-3-YL)CARBONYL]GLYCINE-- --target--10592235
    N-[(4-HYDROXY-8-IODOISOQUINOLIN-3-YL)CARBONYL]GLYCINE-- --target--10592235

    9 Novoseek inferred chemical compound relationships for EGLN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-ketoglutarate 78 9 16880998 (2), 17135241 (1), 19028544 (1), 16565084 (1) (see all 5)
    proline 61.7 11 18426857 (2), 12670503 (1), 18640395 (1), 17925579 (1) (see all 6)
    oxygen 53.8 23 16952279 (2), 16185289 (2), 18927305 (2), 20028863 (1) (see all 14)
    asparagine 47.3 2 18426857 (2)
    vegf 37.2 7 16278385 (2), 18500250 (1), 17189520 (1), 16815840 (1) (see all 6)
    succinate 28 1 17135241 (2), 19587783 (1)
    pyruvate 4.18 2 17135241 (1), 14984367 (1)
    zinc 0 4 16155211 (2), 16893883 (1)
    estrogen 0 1 11850811 (1)

    Search CenterWatch for drugs/clinical trials and news about EGLN1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for EGLN1 gene: 
    NM_022051.2  

    Unigene Cluster for EGLN1:

    Egl nine homolog 1 (C. elegans)
    Hs.444450  [show with all ESTs]
    Unigene Representative Sequence: NM_022051
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366641(uc001huu.3 uc001huv.2) ENST00000476717

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    Additional mRNA sequence: 

    AF229245.1 AF277174.1 AF277176.1 AF334711.1 AJ227859.1 AJ310543.1 AK130374.1 AL833885.1 
    BC005369.1 DQ975380.1 

    12 DOTS entries:

    DT.100650259  DT.446845  DT.100834642  DT.95254354  DT.100708715  DT.97825344  DT.121385087  DT.40128523 
    DT.91770664  DT.95075775  DT.100647231  DT.92363942 

    24/265 AceView cDNA sequences (see all 265):

    AW292115 AI814390 CA416657 BF940422 AW302201 W88555 AI253106 CA397966 
    AA134844 AA969289 AI420330 AI889182 BP346238 AJ705112 CR604521 BG110856 
    AW302548 AA846715 AL602378 BQ959211 BF435111 AF229245 AI394635 AA385806 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EGLN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATTTGAAA
    EGLN1 Expression
    About this image


    See EGLN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EGLN1

    SOURCE GeneReport for Unigene cluster: Hs.444450

    UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9
    Tissue specificity: According to PubMed:11056053, widely expressed with highest levels in skeletal muscle and
    heart, moderate levels in pancreas, brain (dopaminergic neurons of adult and fetal substantia nigra) and kidney,
    and lower levels in lung and liver. According to PubMed:12351678 widely expressed with highest levels in brain,
    kidney and adrenal gland. Expressed in cardiac myocytes, aortic endothelial cells and coronary artery smooth
    muscle. According to PubMed:12788921; expressed in adult and fetal heart, brain, liver, lung, skeletal muscle and
    kidney. Also expressed in placenta. Highest levels in adult heart, brain, lung and liver and fetal brain, heart
    spleen and skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Arrays including EGLN1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for EGLN1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Egln11 , 5 EGL nine homolog 1 (C. elegans)1, 5 85.01(n)1
    84.67(a)1
      8 (72.86 cM)5
    1124051  NM_053207.21  NP_444437.21 
     1249085965 
    chicken
    (Gallus gallus)
    Aves LOC7683741 egl nine homolog 1-like 85.5(n)
    87.73(a)
      768374  XM_001231253.2  XP_001231254.2 
    lizard
    (Anolis carolinensis)
    Reptilia EGLN16
    egl nine homolog 1 (C. elegans)
    66(a)
    1 ↔ 1
    1(221716955-221744887)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF521093.12   -- 77.63(n)    CF521093.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003293851 egl nine homolog 1-like 75.06(n)
    83.58(a)
      100329385  XM_002664235.3  XP_002664281.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hph1 HIF prolyl hydroxylase 52.85(n)
    44.12(a)
      40633  NM_169036.1  NP_730906.1 
    worm
    (Caenorhabditis elegans)
    Secernentea egl-96
    Protein EGL-9, isoform a
    19(a)
    1 → many
    V(10468411-10476952)


    ENSEMBL Gene Tree for EGLN1 (if available)
    TreeFam Gene Tree for EGLN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EGLN1 gene
    EGLN22  EGLN32  
    2 SIMAP similar genes for EGLN1 using alignment to 11 protein entries:     EGLN1_HUMAN (see all proteins):
    EGLN3    EGLN2

    EGLN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1547 SNPs in EGLN1 are shown (see all 1547)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0273714
    Familial erythrocytosis 3 (ECYT3)4--see VAR_0273712 P R mis40--------
    VAR_0459024
    Familial erythrocytosis 3 (ECYT3)4--see VAR_0459022 R H mis40--------
    rs803581931,2
    Cpathogenic1238294270(-) CATTTC/GGATTA 2 P R mis10--------
    rs113866151,2
    C--201983643(+) CACAAT/-TTTTT 1 -- ut311Minor allele frequency- -:0.50NA 2
    rs32156251,2
    C--201983650(+) TTTTT-/C/TCCATG 2 -- ut310--------
    rs14351671,2
    C,F,A--201985535(-) TGAAAT/ATTTTT 1 -- int18Minor allele frequency- A:0.49NA WA EA 368
    rs677609141,2
    C--201994067(+) GAAGAAAAC/-  
            
    AAACA
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs61436671,2
    C--201994347(+) gcctc-/AGCCTCCCAAAGTG
    CTGGAATTACAGGCTTG
    AGCCA
    1 -- int10--------
    rs673024141,2
    C--201994351(+) CAGCC-/TCCCAAAGTGCTGG
    AATTACAGGCTTGAGCC
    ACCAC
    1 -- int10--------
    rs1397140701,2
    C--201999096(+) AACTT-/AG/GA 
            
    GTGTG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for EGLN1 (231499497 - 231560790 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for EGLN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2661110CNV Deletion23128226
    esv2724861CNV Deletion23290073
    esv2421419CNV Deletion20811451
    nsv827208CNV Loss20364138
    nsv441741CNV CNV18776908


    Human Gene Mutation Database (HGMD): EGLN1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606425   
    OMIM disorders: 609820  
    UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9
  • Familial erythrocytosis 3 (ECYT3) [MIM:609820]: An autosomal dominant disorder characterized by increased
    serum red blood cell mass, elevated serum hemoglobin and hematocrit, and normal serum erythropoietin levels.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/32 diseases for EGLN1 (see all 32):    About MalaCards
    familial erythrocytosis 3    hypoxia    pancreatic endocrine tumor    phaeochromocytoma
    paraganglioma    polycythemia    renal clear cell carcinoma    osteosarcoma
    endometrial carcinoma    renal cell carcinoma    pancreatitis    parkinson's disease
    ischemia    glioblastoma    myeloma    pancreatic cancer
    colon cancer    hepatitis b    retinitis    endotheliitis


    EGLN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for EGLN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythrocytosis, familial 89.3 6 16687917 (1), 19092153 (1), 19494350 (1), 17933562 (1)
    osteosarcoma 30.5 1 15104534 (1)
    tumors 29.7 18 16489060 (3), 20028863 (2), 18927305 (2), 19092153 (2) (see all 7)

    Genetic Association Database (GAD): EGLN1
    Human Genome Epidemiology (HuGE) Navigator: EGLN1 (4 documents)

    Export disorders for EGLN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EGLN1 gene, integrated from 9 sources (see all 180):
    (articles sorted by number of sources associating them with EGLN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mapping, characterization, and expression analysis of the SM-20 human homologue, C1orf12, and identification of a novel related gene, SCAND2. (PubMed id 11056053)1, 2, 3, 9 Dupuy D.... Arveiler B. (2000)
    2. Role of the intracellular localization of HIF-prolyl hydroxylases. (PubMed id 19339211)1, 2, 9 Yasumoto K....Sogawa K. (2009)
    3. Cellular oxygen sensing: Importins and exportins are mediators of intracellular localisation of prolyl-4-hydroxylases PHD1 and PHD2. (PubMed id 19631610)1, 2, 9 Steinhoff A....Depping R. (2009)
    4. Cellular oxygen sensing: crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2). (PubMed id 16782814)1, 2, 9 McDonough M.A.... Schofield C.J. (2006)
    5. Characterization and comparative analysis of the EGLN gene family. (PubMed id 11574160)1, 2, 9 Taylor M.S. (2001)
    6. Differential function of the prolyl hydroxylases PHD1, PHD2, and PHD3 in the regulation of hypoxia-inducible factor. (PubMed id 15247232)1, 2, 9 Appelhoff R.J....Gleadle J.M. (2004)
    7. Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing. (PubMed id 12615973)1, 2, 9 Metzen E....Fandrey J. (2003)
    8. Differential regulation of HIF-1alpha prolyl-4-hydroxylase genes by hypoxia in human cardiovascular cells. (PubMed id 12670503)1, 2, 9 Cioffi C.L.... Bowen B.R. (2003)
    9. The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity. (PubMed id 22286099)1, 2 Foxler D.E.... Sharp T.V. (2012)
    10. Studies on the reaction of nitric oxide with the hypoxia-inducible factor prolyl hydroxylase domain 2 (EGLN1). (PubMed id 21601578)1, 2 Chowdhury R....Schofield C.J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54583 HGNC: 1232 AceView: EGLN1 Ensembl:ENSG00000135766 euGenes: HUgn54583
    ECgene: EGLN1 Kegg: 54583 H-InvDB: EGLN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EGLN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EGLN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EGLN1 gene:
    Search GeneIP for patents involving EGLN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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