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HIF3A Gene

protein-coding   GIFtS: 56
GCID: GC19P046800

Hypoxia Inducible Factor 3, Alpha Subunit

  See HIF3A-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
Hypoxia Inducible Factor 3, Alpha Subunit1 2     PASD72 3
IPAS2 3 5     bHLHe172 3
Basic-Helix-Loop-Helix-PAS Protein MOP72 3     PAS Domain-Containing Protein 72 3
Class E Basic Helix-Loop-Helix Protein 172 3     HIF-3A2
Inhibitory PAS Domain Protein2 3     Hypoxia-Inducible Factor 3-Alpha2
Member Of PAS Protein 72 3     BHLHE173
HIF3-alpha-12 3     HIF-3-alpha3
MOP72 3     HIF3-alpha3

External Ids:    HGNC: 158251   Entrez Gene: 643442   Ensembl: ENSG000001244407   OMIM: 6099765   UniProtKB: Q9Y2N73   

Export aliases for HIF3A gene to outside databases

Previous GC identifers: GC19P047444 GC19P047191 GC19P051476 GC19P051492 GC19P043228


(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 HIF3A Gene:
The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric
transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit
lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is
thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression.
Multiple alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Mar 2011)

GeneCards Summary for HIF3A Gene:
HIF3A (hypoxia inducible factor 3, alpha subunit) is a protein-coding gene. Diseases associated with HIF3A include extratemporal epilepsy, and hypoxia. GO annotations related to this gene include protein dimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ARNT2.

UniProtKB/Swiss-Prot: HIF3A_HUMAN, Q9Y2N7
Function: Involved in adaptive response to hypoxia. Suppresses hypoxia-inducible expression of HIF1A and EPAS1.
Binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters. The
complex HIF3A-ARNT activates the transcription of reporter genes driven by HRE. Isoform 4 has a dominant-negative
function of inactivating HIF1A-mediated transcription. Isoform 4 attenuates the binding of HIF1A to
hypoxia-responsive elements (HRE), thus inhibiting HRE-driven transcription. Hypoxia induces down-regulation of
isoform 4, leading to activation of HIF1A in hypoxia. Conversely, upon restoring normoxia, the expression of
isoform 4 increases and thereby secure an inhibition of HIF1A activity. Isoform 4 may be a negative regulator of
hypoxia-inducible gene expression in the kidney and may be involved in renal tumorigenesis. Functions as an
inhibitor of angiogenesis in the cornea (By similarity)

Gene Wiki entry for HIF3A 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_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HIF3A gene promoter:
         SREBP-1a   Tal-1beta   SREBP-1b   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): HIF3A promoter sequence
   Search Chromatin IP Primers for HIF3A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HIF3A


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

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13

HIF3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIF3A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P046800:  view genomic region     (about GC identifiers)

Start:
46,800,303 bp from pter      End:
46,846,690 bp from pter
Size:
46,388 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HIF3A_HUMAN, Q9Y2N7 (See protein sequence)
Recommended Name: Hypoxia-inducible factor 3-alpha  
Size: 669 amino acids; 72433 Da
Subunit: Heterodimerizes with ARNT. Interacts via the oxygen-dependent degradation domain (ODD) with the beta
domain of VHL
Secondary accessions: B0M185 B4DNA2 Q58A43 Q66K72 Q8WXA1 Q96K34 Q9H7Z9 Q9HAI2
Alternative splicing: 7 isoforms:  Q9Y2N7-1   Q9Y2N7-2   Q9Y2N7-3   Q9Y2N7-4   Q9Y2N7-5   Q9Y2N7-6   Q9Y2N7-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HIF3A: NX_Q9Y2N7

Explore proteomics data for HIF3A at MOPED

Post-translational modifications: 

  • In normoxia, hydroxylated on Pro-492 in the oxygen-dependent degradation domain (ODD) by PHD. The hydroxylated
    proline promotes interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation1
  • Ubiquitination2 at Lys467, Lys570
  • Modification sites at PhosphoSitePlus

  • See HIF3A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_071907.4  NP_690007.1  NP_690008.2  NP_690009.1  

    ENSEMBL proteins: 
     ENSP00000432809   ENSP00000366898   ENSP00000244303   ENSP00000435532   ENSP00000435200  
     ENSP00000434653   ENSP00000432613   ENSP00000300862   ENSP00000469031   ENSP00000471560  
     ENSP00000434700   ENSP00000407771   ENSP00000341877  
    Reactome Protein details: Q9Y2N7

    HIF3A Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for HIF3A (4 products) 

     
    antibodies-online peptides for HIF3A

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    antibodies-online antibodies for HIF3A (52 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    5 InterPro protein domains:
     IPR021537 HIF_alpha_subunit
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y2N7

    ProtoNet protein and cluster: Q9Y2N7

    5 Blocks protein domains:
    IPB000014 PAS domain
    IPB001067 Nuclear translocator signature
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB001610 PAC motif
    IPB013655 PAS fold-3


    UniProtKB/Swiss-Prot: HIF3A_HUMAN, Q9Y2N7
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains


    Find genes that share domains with HIF3A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: HIF3A_HUMAN, Q9Y2N7
    Function: Involved in adaptive response to hypoxia. Suppresses hypoxia-inducible expression of HIF1A and EPAS1.
    Binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters. The
    complex HIF3A-ARNT activates the transcription of reporter genes driven by HRE. Isoform 4 has a dominant-negative
    function of inactivating HIF1A-mediated transcription. Isoform 4 attenuates the binding of HIF1A to
    hypoxia-responsive elements (HRE), thus inhibiting HRE-driven transcription. Hypoxia induces down-regulation of
    isoform 4, leading to activation of HIF1A in hypoxia. Conversely, upon restoring normoxia, the expression of
    isoform 4 increases and thereby secure an inhibition of HIF1A activity. Isoform 4 may be a negative regulator of
    hypoxia-inducible gene expression in the kidney and may be involved in renal tumorigenesis. Functions as an
    inhibitor of angiogenesis in the cornea (By similarity)
    Induction: Strongly induced by hypoxia (1% O(2)), both at the level of protein and mRNA due to an increase in
    protein stability and transcriptional activation

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003713transcription coactivator activity IDA11573933
    GO:0003714transcription corepressor activity IDA11573933
    GO:0004871signal transducer activity IEA--
         
    Find genes that share ontologies with HIF3A           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for HIF3A:
     Increased cell number in G2M,   Synthetic lethal with imatinib 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hif3a):
     cardiovascular system  muscle  respiratory system 

    Find genes that share phenotypes with HIF3A           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HIF3A

    miRNA
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    miRTarBase miRNAs that target HIF3A:
    hsa-mir-1 (MIRT023941)

    Block miRNA regulation of human, mouse, rat HIF3A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HIF3A (see all 48):
    hsa-miR-100* hsa-let-7d hsa-miR-29a hsa-miR-765 hsa-miR-3916 hsa-miR-570 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): HIF3A 3' UTR sequence
    Inhib. RNA
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    (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
    HIF3A_HUMAN, Q9Y2N7: Nucleus. Cytoplasm. Note=In the nuclei of all periportal and perivenous hepatocytes. In the
    distal perivenous zone, detected in the cytoplasm of the hepatocytes (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane4
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ----

    Find genes that share ontologies with HIF3A           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 HIF3A About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen1.00
    Regulation of Gene Expression by Hypoxia-inducible Factor0.00
    Cellular response to hypoxia1.00
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.00
    2Cellular Senescence
    Cellular responses to stress0.81
    3Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha


    Find genes that share SuperPaths with HIF3A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HIF3A
        Hypoxic and oxygen homeostasis regulation of HIF-1-alpha

    3 Reactome Pathways for HIF3A
        Transcriptional regulation of pluripotent stem cells
    Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
    Regulation of gene expression by Hypoxia-inducible Factor


        Pathway & Disease-focused RT2 Profiler PCR Array including HIF3A: 
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HIF3A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for HIF3A (Q9Y2N73 ENSP000003668984) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGLN3Q9H6Z93, ENSP000002504574I2D: score=1 STRING: ENSP00000250457
    ARNTP275403, ENSP000003514074I2D: score=1 STRING: ENSP00000351407
    HIF1AQ166653, ENSP000003380184I2D: score=2 STRING: ENSP00000338018
    VHLP403373, ENSP000002564744I2D: score=2 STRING: ENSP00000256474
    EGLN1Q9GZT93, ENSP000003556014I2D: score=1 STRING: ENSP00000355601
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA11573933
    GO:0006366transcription from RNA polymerase II promoter IEA--
    GO:0007165signal transduction ----

    Find genes that share ontologies with HIF3A           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
    7 ApexBio Compounds for HIF3A     About this table
    CompoundAction CAS #
    Chetomininhibits interaction of HIF-1alpha, HIF-2alpha and STAT2[1403-36-7]
    DMOGinhibits HIF-alpha prolyl hydroxylase (HIF-PH). [89464-63-1]
    FG-4592 (ASP1517)a potent small molecule inhibitor of HIF-PH[808118-40-3]
    IOX2(Glycine)potent inhibitor of HIF-1alfa prolyll hydroxylase-2 (PHD2)[931398-72-0]
    KC7F2Inhibitor of HIF-1alpha. [927822-86-4]
    ML 228HIF pathway activator [1357171-62-0]
    PX 12attenuates expression of HIF-1alpha, VEGF and iNOS[141400-58-0]

    Browse Tocris compounds for HIF3A



    (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 HIF3A gene (4 alternative transcripts): 
    NM_022462.4  NM_152794.3  NM_152795.3  NM_152796.2  

    Unigene Cluster for HIF3A:

    Hypoxia inducible factor 3, alpha subunit
    Hs.420830  [show with all ESTs]
    Unigene Representative Sequence: NM_152794
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000533789 ENST00000475432(uc002pef.2) ENST00000244302(uc002peg.4)
    ENST00000377670 ENST00000524533 ENST00000244303 ENST00000528563 ENST00000533145
    ENST00000472815(uc002pej.2) ENST00000526506 ENST00000291300 ENST00000300862
    ENST00000600879 ENST00000600383 ENST00000525854 ENST00000529205 ENST00000531043
    ENST00000600236
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    Additional mRNA sequence: 

    AB054067.1 AB118749.1 AB295039.1 AF079154.1 AK021421.1 AK021737.1 AK021881.1 AK297828.1 
    AK299699.1 AK314680.1 BC080551.1 

    14 DOTS entries:

    DT.87014382  DT.312390  DT.91692863  DT.91692865  DT.91692857  DT.40296756  DT.95371242  DT.98083597 
    DT.40316103  DT.428442  DT.95257936  DT.92064013  DT.95371241  DT.121444344 

    Selected AceView cDNA sequences (see all 142):

    BQ416614 NM_022462 AI281985 AB054067 F01443 CF456748 CR615892 AA359276 
    F06283 AW270837 NM_152796 AA428211 BM722881 AF079154 CR612598 BQ684757 
    AI075316 F05192 AI091960 NM_152794 BM972872 AA346560 BU742834 BU678311 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HIF3A (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
    SP1:                    -           -     -     -                                                                       -                                   -   
    SP2:                                -     -     -                                                                       -                                   -   
    SP3:              -     -           -     -     -                                                                       -                                       
    SP4:                    -           -     -     -     -                                                                 -                       -     -     -   
    SP5:              -     -           -     -     -                                                                                                               

    ExUns: 17a · 17b · 17c ^ 18 ^ 19
    SP1:                              
    SP2:                    -         
    SP3:                              
    SP4:  -                           
    SP5:                              


    ECgene alternative splicing isoforms for HIF3A

    (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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    HIF3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAGGCACG
    HIF3A Expression
    About this image


    HIF3A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Liver (Hepatobiliary System)
             Mesothelial Cells Hepatic Mesenchyme
     
     Lung (Respiratory System)
             Alveolar type II cells
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Eye (Sensory Organs)
             Retina
    HIF3A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HIF3A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.420830

    UniProtKB/Swiss-Prot: HIF3A_HUMAN, Q9Y2N7
    Tissue specificity: Expressed in kidney. Expressed abundantly in lung epithelial cells. Expression is regulated in
    an oxygen-dependent manner

        Pathway & Disease-focused RT2 Profiler PCR Array including HIF3A: 
              Hypoxia Signaling Pathway in human mouse rat

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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 HIF3A gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hif3a1 , 5 hypoxia inducible factor 3, alpha subunit1, 5 83.94(n)1
    82.58(a)1
      7 (9.15 cM)5
    534171  NM_001162950.11  NP_001156422.11 
     170315075 
    lizard
    (Anolis carolinensis)
    Reptilia HIF3A6
    hypoxia inducible factor 3, alpha subunit
    55(a)
    1 ↔ 1
    GL343568.1(194964-233742)
    zebrafish
    (Danio rerio)
    Actinopterygii hif1al1 hypoxia-inducible factor 1, alpha subunit, like 57.89(n)
    51.44(a)
      393376  NM_200405.1  NP_956699.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sima6
    similar
    13(a)
    1 → many
    3R(25884037-25947101)
    worm
    (Caenorhabditis elegans)
    Secernentea hif-16
    Protein HIF-1, isoform e
    19(a)
    1 → many
    V(20780413-20785258) WBGene00001851


    ENSEMBL Gene Tree for HIF3A (if available)
    TreeFam Gene Tree for HIF3A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HIF3A gene
    ARNT22  CLOCK2  NPAS22  AHR2  ARNT2  EPAS12  NPAS32  HIF1A2  
    SIM22  SIM12  ARNTL2  NPAS12  ARNTL22  AHRR2  
    8 SIMAP similar genes for HIF3A using alignment to 11 protein entries:     HIF3A_HUMAN (see all proteins):
    HIF-1A    EPAS1    HIF1A    CLOCK    NPAS2    NPAS3
    NPAS4    AHRR

    Find genes that share paralogs with HIF3A           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 HIF3A (see all 1240)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1164789281,2
    C,Funtested143243882(+) TTTCTC/TTCCCC 4 -- int11Minor allele frequency- T:0.02EU 385
    rs1422482331,2
    C,Funtested143260765(+) TGCTCG/AGAGCT 7 /Q /R mis1 int11Minor allele frequency- A:0.00NA 4518
    rs1912097981,2
    --43226306(+) GGCTGA/GAGTGC 1 -- us2k10--------
    rs1389972931,2
    C--43226408(+) TGTGCC/TACCAC 1 -- us2k10--------
    rs1139494441,2
    C,F--43226550(+) CCATGG/ACCGGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1459470151,2
    C--43226593(+) ACATCC/TCACCT 1 -- us2k10--------
    rs1169765201,2
    F--43226624(+) AAGCTG/AATTTC 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1481921281,2
    --43226675(+) TCAAAC/TGAATC 1 -- us2k10--------
    rs745852951,2
    C--43226699(+) AATAAG/-GCAAT 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1154282751,2
    F--43226722(+) AATATT/CTGACA 1 -- us2k11Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for HIF3A (46800303 - 46846690 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HIF3A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718653CNV Deletion23290073
    esv2661691CNV Deletion23128226
    esv2573837CNV Deletion19546169

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609976    OMIM disorders: --

    2 diseases for HIF3A:    
    About MalaCards
    extratemporal epilepsy    hypoxia

    1 disease from the University of Copenhagen DISEASES database for HIF3A:
    Extratemporal epilepsy

    Find genes that share disorders with HIF3A           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: HIF3A (1 document)

    Export disorders for HIF3A 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 HIF3A gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with HIF3A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression and characterization of hypoxia-inducible factor (HIF)- 3alpha in human kidney: suppression of HIF-mediated gene expression by HIF-3alpha. (PubMed id 11573933)1, 2, 3 Hara S.... Imura N. (Biochem. Biophys. Res. Commun. 2001)
    2. Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex. (PubMed id 12538644)1, 2, 9 Maynard M.A.... Ohh M. (J. Biol. Chem. 2003)
    3. Hypoxia upregulates hypoxia inducible factor (HIF)-3alpha expression in lung epithelial cells: characterization and comparison with HIF- 1alpha. (PubMed id 16775626)1, 2 Li Q.F.... Lin H. (Cell Res. 2006)
    4. Human HIF-3alpha4 is a dominant-negative regulator of HIF-1 and is down-regulated in renal cell carcinoma. (PubMed id 16126907)1, 2 Maynard M.A.... Ohh M. (FASEB J. 2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Inhibitory PAS domain protein is a negative regulator of hypoxia-inducible gene expression. (PubMed id 11734856)1, 3 Makino Y....Poellinger L. (Nature 2001)
    7. Binding and regulation of hypoxia-inducible factor-1 by the inhibitory PAS proteins. (PubMed id 16182248)1, 9 Jang M.S....Cho S. (Biochem. Biophys. Res. Commun. 2005)
    8. Dominant-negative HIF-3 alpha 4 suppresses VHL-null renal cell carcinoma progression. (PubMed id 17998805)1, 9 Maynard M.A....Ohh M. (Cell Cycle 2007)
    9. A hypoxia-inducible factor (HIF)-3I+ splicing variant, HIF-3I+4 impairs angiogenesis in hypervascular malignant meningiomas with epigenetically silenced HIF-3I+4. (PubMed id 23485455)1 Ando H....Wakabayashi T. (Biochem. Biophys. Res. Commun. 2013)
    10. Hypoxia inducible factor 3I+ plays a critical role in alveolarization and distal epithelial cell differentiation during mouse lung development. (PubMed id 23451260)1 Huang Y....Rottier R.J. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 64344 HGNC: 15825 AceView: HIF3A Ensembl:ENSG00000124440 euGenes: HUgn64344
    ECgene: HIF3A H-InvDB: HIF3A

    (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)
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    NameDescription
    PharmGKB entry for HIF3A Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Hypoxia_inducible_factor

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HIF3A gene:
    Search GeneIP for patents involving HIF3A

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



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