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Q9Y2N7

- HIF3A_HUMAN

UniProt

Q9Y2N7 - HIF3A_HUMAN

Protein

Hypoxia-inducible factor 3-alpha

Gene

HIF3A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (17 Apr 2007)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. sequence-specific DNA binding transcription factor activity Source: Ensembl
    3. signal transducer activity Source: InterPro
    4. transcription coactivator activity Source: UniProtKB
    5. transcription corepressor activity Source: UniProtKB

    GO - Biological processi

    1. cellular response to hypoxia Source: Reactome
    2. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    3. regulation of transcription from RNA polymerase II promoter in response to hypoxia Source: Reactome
    4. transcription from RNA polymerase II promoter Source: Ensembl

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_120916. Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha.
    REACT_121092. Regulation of gene expression by Hypoxia-inducible Factor.
    REACT_200812. Transcriptional regulation of pluripotent stem cells.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hypoxia-inducible factor 3-alpha
    Short name:
    HIF-3-alpha
    Short name:
    HIF3-alpha
    Alternative name(s):
    Basic-helix-loop-helix-PAS protein MOP7
    Class E basic helix-loop-helix protein 17
    Short name:
    bHLHe17
    HIF3-alpha-1
    Inhibitory PAS domain protein
    Short name:
    IPAS
    Member of PAS protein 7
    PAS domain-containing protein 7
    Gene namesi
    Name:HIF3A
    Synonyms:BHLHE17, MOP7, PASD7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:15825. HIF3A.

    Subcellular locationi

    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.By similarity

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. nucleoplasm Source: Reactome

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi467 – 4671K → R: No loss of ubiquitination. Reduced ubiquitination; when associated with R-570. 1 Publication
    Mutagenesisi492 – 4921P → A: Reduced ubiquitination. 1 Publication
    Mutagenesisi570 – 5701K → R: No loss of ubiquitination. Reduced ubiquitination; when associated with R-467. 1 Publication

    Organism-specific databases

    PharmGKBiPA29285.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 669669Hypoxia-inducible factor 3-alphaPRO_0000284414Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki467 – 467Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
    Modified residuei492 – 49214-hydroxyproline1 Publication
    Cross-linki570 – 570Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

    Post-translational modificationi

    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 degradation.1 Publication

    Keywords - PTMi

    Hydroxylation, Isopeptide bond, Ubl conjugation

    Proteomic databases

    PaxDbiQ9Y2N7.
    PRIDEiQ9Y2N7.

    PTM databases

    PhosphoSiteiQ9Y2N7.

    Expressioni

    Tissue specificityi

    Expressed in kidney. Expressed abundantly in lung epithelial cells. Expression is regulated in an oxygen-dependent manner.1 Publication

    Inductioni

    Strongly induced by hypoxia (1% O2), both at the level of protein and mRNA due to an increase in protein stability and transcriptional activation.1 Publication

    Gene expression databases

    ArrayExpressiQ9Y2N7.
    BgeeiQ9Y2N7.
    CleanExiHS_HIF3A.
    GenevestigatoriQ9Y2N7.

    Organism-specific databases

    HPAiHPA041141.

    Interactioni

    Subunit structurei

    Heterodimerizes with ARNT. Interacts via the oxygen-dependent degradation domain (ODD) with the beta domain of VHL.2 Publications

    Protein-protein interaction databases

    BioGridi122143. 4 interactions.
    STRINGi9606.ENSP00000366898.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y2N7.
    SMRiQ9Y2N7. Positions 11-342.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini14 – 6754bHLHPROSITE-ProRule annotationAdd
    BLAST
    Domaini82 – 15473PAS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini227 – 29771PAS 2PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni452 – 581130ODDAdd
    BLAST
    Regioni454 – 50653NTADAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi414 – 4185LRRLL
    Motifi490 – 4978LAPYISMD

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
    Contains 2 PAS (PER-ARNT-SIM) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG288942.
    HOGENOMiHOG000234306.
    HOVERGENiHBG060456.
    InParanoidiQ9Y2N7.
    KOiK09096.
    OMAiAVGQSIH.
    OrthoDBiEOG7JDQX8.
    PhylomeDBiQ9Y2N7.
    TreeFamiTF317772.

    Family and domain databases

    InterProiIPR011598. bHLH_dom.
    IPR021537. HIF_alpha_subunit.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    [Graphical view]
    PfamiPF11413. HIF-1. 1 hit.
    PF00989. PAS. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    SM00086. PAC. 1 hit.
    SM00091. PAS. 2 hits.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 2 hits.
    TIGRFAMsiTIGR00229. sensory_box. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    PS50112. PAS. 2 hits.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y2N7-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MALGLQRARS TTELRKEKSR DAARSRRSQE TEVLYQLAHT LPFARGVSAH    50
    LDKASIMRLT ISYLRMHRLC AAGEWNQVGA GGEPLDACYL KALEGFVMVL 100
    TAEGDMAYLS ENVSKHLGLS QLELIGHSIF DFIHPCDQEE LQDALTPQQT 150
    LSRRKVEAPT ERCFSLRMKS TLTSRGRTLN LKAATWKVLN CSGHMRAYKP 200
    PAQTSPAGSP DSEPPLQCLV LICEAIPHPG SLEPPLGRGA FLSRHSLDMK 250
    FTYCDDRIAE VAGYSPDDLI GCSAYEYIHA LDSDAVSKSI HTLLSKGQAV 300
    TGQYRFLARS GGYLWTQTQA TVVSGGRGPQ SESIVCVHFL ISQVEETGVV 350
    LSLEQTEQHS RRPIQRGAPS QKDTPNPGDS LDTPGPRILA FLHPPSLSEA 400
    ALAADPRRFC SPDLRRLLGP ILDGASVAAT PSTPLATRHP QSPLSADLPD 450
    ELPVGTENVH RLFTSGKDTE AVETDLDIAQ DADALDLEML APYISMDDDF 500
    QLNASEQLPR AYHRPLGAVP RPRARSFHGL SPPALEPSLL PRWGSDPRLS 550
    CSSPSRGDPS ASSPMAGARK RTLAQSSEDE DEGVELLGVR PPKRSPSPEH 600
    ENFLLFPLSL SFLLTGGPAP GSLQDPSTPL LNLNEPLGLG PSLLSPYSDE 650
    DTTQPGGPFQ PRAGSAQAD 669
    Length:669
    Mass (Da):72,433
    Last modified:April 17, 2007 - v2
    Checksum:i81C4C84517000DE2
    GO
    Isoform 2 (identifier: Q9Y2N7-2) [UniParc]FASTAAdd to Basket

    Also known as: HIF-3alpha1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-8: MALGLQRA → MDWQDH

    Show »
    Length:667
    Mass (Da):72,405
    Checksum:i67B8794FF9DCCF4B
    GO
    Isoform 3 (identifier: Q9Y2N7-3) [UniParc]FASTAAdd to Basket

    Also known as: HIF-3alpha2

    The sequence of this isoform differs from the canonical sequence as follows:
         611-669: SFLLTGGPAP...QPRAGSAQAD → VCWGINGILWPSLPSWLKPTVL

    Show »
    Length:632
    Mass (Da):68,964
    Checksum:i9665B0AF3998F8EF
    GO
    Isoform 4 (identifier: Q9Y2N7-4) [UniParc]FASTAAdd to Basket

    Also known as: HIF-3alpha4

    The sequence of this isoform differs from the canonical sequence as follows:
         293-363: LLSKGQAVTG...EQTEQHSRRP → CMYPISPGAK...FSPHLPPWWP
         364-669: Missing.

    Show »
    Length:363
    Mass (Da):39,962
    Checksum:i66CE5B85A2C50A15
    GO
    Isoform 5 (identifier: Q9Y2N7-5) [UniParc]FASTAAdd to Basket

    Also known as: HIF-3alpha3

    The sequence of this isoform differs from the canonical sequence as follows:
         1-56: Missing.
         627-669: STPLLNLNEP...QPRAGSAQAD → TELTQFLLSV...APSPLGWFAI

    Show »
    Length:648
    Mass (Da):69,967
    Checksum:iF41051A16B629167
    GO
    Isoform 6 (identifier: Q9Y2N7-6) [UniParc]FASTAAdd to Basket

    Also known as: HIF-3alpha6

    The sequence of this isoform differs from the canonical sequence as follows:
         1-86: Missing.
         87-137: ACYLKALEGF...SIFDFIHPCD → MRPAAGAARR...ATCACTASAP
         234-323: PPLGRGAFLS...LWTQTQATVV → GFVMVLTAEG...FSPHLPPWWP
         324-669: Missing.

    Show »
    Length:237
    Mass (Da):25,710
    Checksum:iA78EC74708561F68
    GO
    Isoform 7 (identifier: Q9Y2N7-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-120: MALGLQRARS...ENVSKHLGLS → MRPAAGAARR...ATCACTASAP

    Note: No experimental confirmation available.

    Show »
    Length:600
    Mass (Da):64,359
    Checksum:i822B55E0513AF129
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti202 – 2021A → V in BAB55324. (PubMed:14702039)Curated
    Sequence conflicti497 – 4971D → G in BAB55324. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti343 – 3431Q → R.1 Publication
    Corresponds to variant rs3764609 [ dbSNP | Ensembl ].
    VAR_031731
    Natural varianti463 – 4631F → L.
    Corresponds to variant rs7253301 [ dbSNP | Ensembl ].
    VAR_031732

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 120120MALGL…HLGLS → MRPAAGAARRPRCCTSWLTR CPSPAASAPTWTRPLSCASP SATCACTASAP in isoform 7. 1 PublicationVSP_043429Add
    BLAST
    Alternative sequencei1 – 8686Missing in isoform 6. CuratedVSP_024518Add
    BLAST
    Alternative sequencei1 – 5656Missing in isoform 5. 1 PublicationVSP_024519Add
    BLAST
    Alternative sequencei1 – 88MALGLQRA → MDWQDH in isoform 2. 1 PublicationVSP_024520
    Alternative sequencei87 – 13751ACYLK…IHPCD → MRPAAGAARRPRCCTSWLTR CPSPAASAPTWTRPLSCASP SATCACTASAP in isoform 6. CuratedVSP_024521Add
    BLAST
    Alternative sequencei234 – 32390PPLGR…QATVV → GFVMVLTAEGDMAYLSENVS NHLGLSQLELIGHSIFDFIH PCDQEELQDALTPHLNTSSL LPKPQGTVSFLAPSYPVPRS FSPHLPPWWP in isoform 6. CuratedVSP_024522Add
    BLAST
    Alternative sequencei293 – 36371LLSKG…HSRRP → CMYPISPGAKPAATWPPADT RTPQLPIPQDALPPHLNTSS LLPKPQGTVSFLAPSYPVPR SFSPHLPPWWP in isoform 4. 1 PublicationVSP_024523Add
    BLAST
    Alternative sequencei324 – 669346Missing in isoform 6. CuratedVSP_024524Add
    BLAST
    Alternative sequencei364 – 669306Missing in isoform 4. 1 PublicationVSP_024525Add
    BLAST
    Alternative sequencei611 – 66959SFLLT…SAQAD → VCWGINGILWPSLPSWLKPT VL in isoform 3. 3 PublicationsVSP_024526Add
    BLAST
    Alternative sequencei627 – 66943STPLL…SAQAD → TELTQFLLSVLSFPILDPYP LGCAAPGLHASPFSLPTISV PQNPLHSPPQPSRHALTLTL PHMFGAPGAPSPLGWFAI in isoform 5. 1 PublicationVSP_024527Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB054067 mRNA. Translation: BAB69689.1.
    AF463492 mRNA. Translation: AAL69947.1.
    AB118749 mRNA. Translation: BAD93355.1.
    AB295039 mRNA. Translation: BAG07185.1.
    AK021653 mRNA. Translation: BAB13865.1.
    AK024095 mRNA. Translation: BAB14824.1.
    AK027725 mRNA. Translation: BAB55324.1.
    AK297828 mRNA. Translation: BAG60164.1.
    AC007193 Genomic DNA. Translation: AAD22668.1.
    CH471126 Genomic DNA. Translation: EAW57410.1.
    BC080551 mRNA. Translation: AAH80551.1.
    CCDSiCCDS12681.2. [Q9Y2N7-1]
    CCDS12682.1. [Q9Y2N7-2]
    CCDS42580.2. [Q9Y2N7-7]
    PIRiJC7771.
    RefSeqiNP_071907.4. NM_022462.4. [Q9Y2N7-7]
    NP_690007.1. NM_152794.3. [Q9Y2N7-2]
    NP_690008.2. NM_152795.3. [Q9Y2N7-1]
    XP_005259211.1. XM_005259154.2. [Q9Y2N7-7]
    XP_006723388.1. XM_006723325.1. [Q9Y2N7-7]
    UniGeneiHs.420830.

    Genome annotation databases

    EnsembliENST00000244303; ENSP00000244303; ENSG00000124440. [Q9Y2N7-7]
    ENST00000300862; ENSP00000300862; ENSG00000124440. [Q9Y2N7-2]
    ENST00000377670; ENSP00000366898; ENSG00000124440. [Q9Y2N7-1]
    GeneIDi64344.
    KEGGihsa:64344.
    UCSCiuc002peg.4. human. [Q9Y2N7-3]
    uc002peh.3. human. [Q9Y2N7-1]
    uc002pel.3. human. [Q9Y2N7-2]
    uc010xxy.2. human. [Q9Y2N7-7]

    Polymorphism databases

    DMDMi145558932.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Hypoxia inducible factor entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB054067 mRNA. Translation: BAB69689.1 .
    AF463492 mRNA. Translation: AAL69947.1 .
    AB118749 mRNA. Translation: BAD93355.1 .
    AB295039 mRNA. Translation: BAG07185.1 .
    AK021653 mRNA. Translation: BAB13865.1 .
    AK024095 mRNA. Translation: BAB14824.1 .
    AK027725 mRNA. Translation: BAB55324.1 .
    AK297828 mRNA. Translation: BAG60164.1 .
    AC007193 Genomic DNA. Translation: AAD22668.1 .
    CH471126 Genomic DNA. Translation: EAW57410.1 .
    BC080551 mRNA. Translation: AAH80551.1 .
    CCDSi CCDS12681.2. [Q9Y2N7-1 ]
    CCDS12682.1. [Q9Y2N7-2 ]
    CCDS42580.2. [Q9Y2N7-7 ]
    PIRi JC7771.
    RefSeqi NP_071907.4. NM_022462.4. [Q9Y2N7-7 ]
    NP_690007.1. NM_152794.3. [Q9Y2N7-2 ]
    NP_690008.2. NM_152795.3. [Q9Y2N7-1 ]
    XP_005259211.1. XM_005259154.2. [Q9Y2N7-7 ]
    XP_006723388.1. XM_006723325.1. [Q9Y2N7-7 ]
    UniGenei Hs.420830.

    3D structure databases

    ProteinModelPortali Q9Y2N7.
    SMRi Q9Y2N7. Positions 11-342.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122143. 4 interactions.
    STRINGi 9606.ENSP00000366898.

    PTM databases

    PhosphoSitei Q9Y2N7.

    Polymorphism databases

    DMDMi 145558932.

    Proteomic databases

    PaxDbi Q9Y2N7.
    PRIDEi Q9Y2N7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000244303 ; ENSP00000244303 ; ENSG00000124440 . [Q9Y2N7-7 ]
    ENST00000300862 ; ENSP00000300862 ; ENSG00000124440 . [Q9Y2N7-2 ]
    ENST00000377670 ; ENSP00000366898 ; ENSG00000124440 . [Q9Y2N7-1 ]
    GeneIDi 64344.
    KEGGi hsa:64344.
    UCSCi uc002peg.4. human. [Q9Y2N7-3 ]
    uc002peh.3. human. [Q9Y2N7-1 ]
    uc002pel.3. human. [Q9Y2N7-2 ]
    uc010xxy.2. human. [Q9Y2N7-7 ]

    Organism-specific databases

    CTDi 64344.
    GeneCardsi GC19P046800.
    HGNCi HGNC:15825. HIF3A.
    HPAi HPA041141.
    MIMi 609976. gene.
    neXtProti NX_Q9Y2N7.
    PharmGKBi PA29285.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG288942.
    HOGENOMi HOG000234306.
    HOVERGENi HBG060456.
    InParanoidi Q9Y2N7.
    KOi K09096.
    OMAi AVGQSIH.
    OrthoDBi EOG7JDQX8.
    PhylomeDBi Q9Y2N7.
    TreeFami TF317772.

    Enzyme and pathway databases

    Reactomei REACT_120916. Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha.
    REACT_121092. Regulation of gene expression by Hypoxia-inducible Factor.
    REACT_200812. Transcriptional regulation of pluripotent stem cells.

    Miscellaneous databases

    GenomeRNAii 64344.
    NextBioi 66283.
    PROi Q9Y2N7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y2N7.
    Bgeei Q9Y2N7.
    CleanExi HS_HIF3A.
    Genevestigatori Q9Y2N7.

    Family and domain databases

    InterProi IPR011598. bHLH_dom.
    IPR021537. HIF_alpha_subunit.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    [Graphical view ]
    Pfami PF11413. HIF-1. 1 hit.
    PF00989. PAS. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    SM00086. PAC. 1 hit.
    SM00091. PAS. 2 hits.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 2 hits.
    TIGRFAMsi TIGR00229. sensory_box. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    PS50112. PAS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression and characterization of hypoxia-inducible factor (HIF)-3alpha in human kidney: suppression of HIF-mediated gene expression by HIF-3alpha."
      Hara S., Hamada J., Kobayashi C., Kondo Y., Imura N.
      Biochem. Biophys. Res. Commun. 287:808-813(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY.
      Tissue: Kidney.
    2. "Cloning and characterization of human inhibitory PAS domain protein."
      Cheng J.Q.
      Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    3. "Human HIF-3alpha4 is a dominant-negative regulator of HIF-1 and is down-regulated in renal cell carcinoma."
      Maynard M.A., Evans A.J., Hosomi T., Hara S., Jewett M.A., Ohh M.
      FASEB J. 19:1396-1406(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), INTERACTION WITH HIF1A AND ARNT.
      Tissue: Cerebellum.
    4. "HIF-3alpha2, one of splicing variants of human hypoxia-inducible factor-3alpha, functions as an inhibitor of hypoxia-induced gene expression and tumor growth."
      Hara S., Hosomi T., Mita M., Sakaue M., Kondo Y.
      Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Kidney.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 5 AND 7).
      Tissue: Embryo, Heart and Ovary.
    6. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-343.
      Tissue: Pancreas.
    9. "Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex."
      Maynard M.A., Qi H., Chung J., Lee E.H., Kondo Y., Hara S., Conaway R.C., Conaway J.W., Ohh M.
      J. Biol. Chem. 278:11032-11040(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING, INTERACTION WITH VHL, UBIQUITINATION AT LYS-467 AND LYS-570, HYDROXYLATION AT PRO-492, MUTAGENESIS OF LYS-467; PRO-492 AND LYS-570.
    10. "Hypoxia upregulates hypoxia inducible factor (HIF)-3alpha expression in lung epithelial cells: characterization and comparison with HIF-1alpha."
      Li Q.F., Wang X.R., Yang Y.W., Lin H.
      Cell Res. 16:548-558(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.

    Entry informationi

    Entry nameiHIF3A_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y2N7
    Secondary accession number(s): B0M185
    , B4DNA2, Q58A43, Q66K72, Q8WXA1, Q96K34, Q9H7Z9, Q9HAI2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 17, 2007
    Last sequence update: April 17, 2007
    Last modified: October 1, 2014
    This is version 117 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3