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EGLN1 Gene

protein-coding   GIFtS: 66
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)
  See EGLN1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include L-ascorbic acid binding and enzyme 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. Target proteins are
preferencially recognized via a LXXLAP motif

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_167186.2  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for EGLN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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;
Selected PDB 3D structures from and Proteopedia for EGLN1 (see all 16):
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: 

  • 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-3261
  • Ubiquitination2 at Lys234
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for EGLN1 (Q9GZT9) (see all 5)
     TVWYFDA  ALEYIVPC  GYVRHVDNP  INGRTKAMVACYPGNG 


    See EGLN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071334.1  
    ENSEMBL proteins: 
     ENSP00000355601  
    Reactome Protein details: Q9GZT9

    EGLN1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for EGLN1

     
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    EGLN1 Antibody Products:

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    Abcam antibodies for EGLN1
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    ThermoFisher Antibody for EGLN1
    LSBio Antibodies in human, mouse, rat for EGLN1

    EGLN1 Assay Products:

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    Search eBioscience for ELISAs for EGLN1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with EGLN1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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. Target proteins are
    preferencially recognized via a LXXLAP motif
    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): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI15721254
    GO:0016491oxidoreductase activity ----
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016706oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors ----
         
    Find genes that share ontologies with EGLN1           About GenesLikeMe


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

         13 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Egln1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     muscle  renal/urinary system  respiratory system 

    Find genes that share phenotypes with EGLN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for EGLN1: Egln1tm1Fong Egln1tm1.2Brei Egln1tm1Pec Egln1tm1.1Kael Egln1tm2.2Fsl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model 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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    miRTarBase miRNAs that target EGLN1:
    hsa-mir-296-3p (MIRT038498), hsa-mir-335-5p (MIRT016815)

    Block miRNA regulation of human, mouse, rat EGLN1 using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat EGLN1

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    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for EGLN1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EGLN1_HUMAN, Q9GZT9: Cytoplasm. Nucleus. Note=Mainly cytoplasmic. Shuttles between the nucleus and cytoplasm.
    Nuclear export requires functional XPO1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with EGLN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for EGLN1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen1.00
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.00
    Cellular response to hypoxia1.00
    2Cellular Senescence
    Cellular responses to stress0.81
    3Translational Control
    Translational Control
    4Renal cell carcinoma
    Renal cell carcinoma
    5Pathways in cancer
    Pathways in cancer


    Find genes that share SuperPaths with EGLN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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

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

    1 Reactome Pathway for EGLN1
        Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EGLN1: 
              Parkinson's Disease in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EGLN1

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

    Selected Interacting proteins for EGLN1 (Q9GZT91, 2, 3 ENSP000003556014) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    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): Selected biological process terms (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

    Find genes that share ontologies with EGLN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with EGLN1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    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
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      QuantiFast Probe-based Assays in human, mouse, rat EGLN1

    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 

    Selected AceView cDNA sequences (see all 265):

    AW292115 W88555 AI253106 CA397966 AA134844 AA969289 AI420330 AI889182 
    BP346238 AJ705112 CR604521 BG110856 AW302548 AA846715 AL602378 BQ959211 
    BF435111 AF229245 AI394635 AA385806 AI927363 AA349461 AA465370 CA397965 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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


    EGLN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    EGLN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EGLN1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for EGLN1 gene from Selected species (see all 15)    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 83.58(n)1
    82.41(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 86.09(n)
    87.59(a)
      768374  XM_001231253.3  XP_001231254.3 
    lizard
    (Anolis carolinensis)
    Reptilia EGLN16
    egl-9 family hypoxia-inducible factor 1
    63(a)
    1 ↔ 1
    1(221716955-221744887)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF521093.12   -- 77.63(n)    CF521093.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch1073-423n4.11 si:ch1073-423n4.1 75.06(n)
    83.58(a)
      100329385  XM_002664235.4  XP_002664281.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hph6
    HIF prolyl hydroxylase
    31(a)
    1 → many
    3R(1082763-1094197)
    worm
    (Caenorhabditis elegans)
    Secernentea egl-96
    Protein EGL-9, isoform a (egl-9) mRNA, complete cd...
    17(a)
    1 → many
    V(10468411-10476952) WBGene00001178


    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)
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    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

    Find genes that share paralogs with EGLN1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EGLN1 (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
    Erythrocytosis, familial, 3 (ECYT3)4--see VAR_0273712 P R mis40--------
    VAR_0459024
    Erythrocytosis, familial, 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EGLN1
    DNA2.0 Custom Variant and Variant Library Synthesis for EGLN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606425   
    OMIM disorders: 609820  
    UniProtKB/Swiss-Prot: EGLN1_HUMAN, Q9GZT9
  • Erythrocytosis, familial, 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

  • 4 diseases for EGLN1:    
    About MalaCards
    familial erythrocytosis 3    hypoxia    familial erythrocytosis 4    erythrocytosis


    Find genes that share disorders with EGLN1           About GenesLikeMe

    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)
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    PubMed articles for EGLN1 gene, integrated from 10 sources (see all 184):
    (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. (Genomics 2000)
    2. Role of the intracellular localization of HIF-prolyl hydroxylases. (PubMed id 19339211)1, 2, 9 Yasumoto K.... Sogawa K. (Biochim. Biophys. Acta 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. (Biochem. Biophys. Res. Commun. 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. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    5. Characterization and comparative analysis of the EGLN gene family. (PubMed id 11574160)1, 2, 9 Taylor M.S. (Gene 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. (J. Biol. Chem. 2004)
    7. Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing. (PubMed id 12615973)1, 2, 9 Metzen E.... Fandrey J. (J. Cell Sci. 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. (Biochem. Biophys. Res. Commun. 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. (Nat. Cell Biol. 2012)
    10. Prolyl hydroxylase-2 (PHD2) exerts tumor-suppressive activity in pancreatic cancer. (PubMed id 21792862)1, 2 Su Y.... Buchler P. (Cancer 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 54583 HGNC: 1232 AceView: EGLN1 Ensembl:ENSG00000135766 euGenes: HUgn54583
    ECgene: EGLN1 Kegg: 54583 H-InvDB: EGLN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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