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O14896

- IRF6_HUMAN

UniProt

O14896 - IRF6_HUMAN

Protein

Interferon regulatory factor 6

Gene

IRF6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development By similarity. Plays a role in regulating mammary epithelial cell proliferation By similarity. May regulate WDR65 transcription By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi7 – 115109IRF tryptophan pentad repeatPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. regulatory region DNA binding Source: InterPro
    4. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. cell cycle arrest Source: UniProtKB
    2. cell development Source: Ensembl
    3. cytokine-mediated signaling pathway Source: Reactome
    4. interferon-gamma-mediated signaling pathway Source: Reactome
    5. keratinocyte differentiation Source: Ensembl
    6. keratinocyte proliferation Source: Ensembl
    7. mammary gland epithelial cell differentiation Source: UniProtKB
    8. negative regulation of cell proliferation Source: UniProtKB
    9. positive regulation of transcription, DNA-templated Source: UniProtKB
    10. transcription, DNA-templated Source: UniProtKB-KW
    11. type I interferon signaling pathway Source: Reactome

    Keywords - Biological processi

    Differentiation, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_25078. Interferon gamma signaling.
    REACT_25162. Interferon alpha/beta signaling.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Interferon regulatory factor 6
    Short name:
    IRF-6
    Gene namesi
    Name:IRF6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:6121. IRF6.

    Subcellular locationi

    Nucleus Curated. Cytoplasm 2 Publications
    Note: Translocates to nucleus in response to an activating signal.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: Reactome
    3. extracellular vesicular exosome Source: UniProt
    4. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Van der Woude syndrome 1 (VWS1) [MIM:119300]: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2 – 21A → V in VWS1. 2 Publications
    Corresponds to variant rs28942093 [ dbSNP | Ensembl ].
    VAR_014961
    Natural varianti6 – 61R → C in VWS1. 1 Publication
    Corresponds to variant rs28942094 [ dbSNP | Ensembl ].
    VAR_030046
    Natural varianti16 – 161A → V in VWS1. 1 Publication
    VAR_030047
    Natural varianti18 – 181V → A in VWS1; abrogates DNA binding. 1 Publication
    VAR_014962
    Natural varianti18 – 181V → M in VWS1; abrogates DNA binding. 1 Publication
    VAR_014963
    Natural varianti22 – 221L → P in VWS1 and PPS; abrogates DNA binding. 1 Publication
    VAR_030048
    Natural varianti39 – 391P → A in VWS1. 1 Publication
    VAR_014964
    Natural varianti45 – 451R → Q in VWS1. 1 Publication
    Corresponds to variant rs121434229 [ dbSNP | Ensembl ].
    VAR_030049
    Natural varianti61 – 611A → G in VWS1. 1 Publication
    VAR_014966
    Natural varianti64 – 641T → I in VWS1. 1 Publication
    VAR_030050
    Natural varianti70 – 701G → R in VWS1; does not affect DNA binding. 1 Publication
    VAR_014968
    Natural varianti76 – 761P → S in VWS1; abrogates DNA binding. 1 Publication
    VAR_014969
    Natural varianti84 – 841R → G in VWS1; abrogates DNA binding. 1 Publication
    VAR_030051
    Natural varianti88 – 881N → H in VWS1. 1 Publication
    VAR_014973
    Natural varianti90 – 901S → G in VWS1. 1 Publication
    VAR_014975
    Natural varianti98 – 981D → H in VWS1; abrogates DNA binding. 1 Publication
    VAR_014976
    Natural varianti100 – 1001T → A in VWS1. 1 Publication
    VAR_030052
    Natural varianti250 – 2501R → Q in VWS1. 1 Publication
    VAR_014977
    Natural varianti251 – 2511L → P in VWS1. 1 Publication
    VAR_030053
    Natural varianti273 – 2731Q → R in VWS1. 1 Publication
    VAR_014978
    Natural varianti290 – 2967FTSKLLD → L in VWS1.
    VAR_014980
    Natural varianti294 – 2941L → P in VWS1. 1 Publication
    VAR_014981
    Natural varianti297 – 2971V → I in VWS1. 1 Publication
    VAR_014982
    Natural varianti320 – 3201K → E in VWS1. 1 Publication
    VAR_014983
    Natural varianti321 – 3211V → M in VWS1. 1 Publication
    VAR_014984
    Natural varianti325 – 3251G → E in VWS1. 1 Publication
    VAR_014985
    Natural varianti339 – 3391R → I in VWS1. 1 Publication
    VAR_059080
    Natural varianti345 – 3451L → P in VWS1. 1 Publication
    VAR_014986
    Natural varianti347 – 3471C → F in VWS1. 1 Publication
    VAR_014987
    Natural varianti349 – 3491E → V in VWS1. 1 Publication
    VAR_030054
    Natural varianti369 – 3691F → S in VWS1 and OFC6. 2 Publications
    VAR_014988
    Natural varianti374 – 3741C → W in VWS1. 1 Publication
    VAR_014989
    Natural varianti388 – 3881K → E in VWS1. 1 Publication
    VAR_014990
    Natural varianti396 – 3961P → S in VWS1. 1 Publication
    VAR_030055
    Natural varianti400 – 4001R → W in VWS1. 1 Publication
    Corresponds to variant rs28942095 [ dbSNP | Ensembl ].
    VAR_030056
    Popliteal pterygium syndrome (PPS) [MIM:119500]: An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221L → P in VWS1 and PPS; abrogates DNA binding. 1 Publication
    VAR_030048
    Natural varianti60 – 601W → G in PPS; abrogates DNA binding. 1 Publication
    VAR_014965
    Natural varianti66 – 661K → T in PPS. 1 Publication
    VAR_014967
    Natural varianti82 – 821Q → K in PPS. 1 Publication
    VAR_014970
    Natural varianti84 – 841R → C in PPS; abrogates DNA binding. 1 Publication
    VAR_014971
    Natural varianti84 – 841R → H in PPS; abrogates DNA binding. 1 Publication
    VAR_014972
    Natural varianti84 – 841R → L in PPS. 1 Publication
    VAR_064475
    Natural varianti89 – 891K → E in PPS; abrogates DNA binding. 1 Publication
    VAR_014974
    Natural varianti424 – 4241S → L in PPS; significant decrease of transcriptional activity. 1 Publication
    VAR_064476
    Natural varianti430 – 4301D → N in PPS. 1 Publication
    VAR_014991
    Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.2 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti369 – 3691F → S in VWS1 and OFC6. 2 Publications
    VAR_014988

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi119300. phenotype.
    119500. phenotype.
    608864. phenotype.
    Orphaneti1300. Autosomal dominant popliteal pterygium syndrome.
    1991. Cleft lip with or without cleft palate.
    2227. Hypodontia.
    99798. Oligodontia.
    888. Van der Woude syndrome.
    PharmGKBiPA29920.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 467467Interferon regulatory factor 6PRO_0000154560Add
    BLAST

    Post-translational modificationi

    Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.2 Publications

    Keywords - PTMi

    Ubl conjugation

    Proteomic databases

    MaxQBiO14896.
    PaxDbiO14896.
    PeptideAtlasiO14896.
    PRIDEiO14896.

    PTM databases

    PhosphoSiteiO14896.

    Expressioni

    Tissue specificityi

    Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.1 Publication

    Gene expression databases

    ArrayExpressiO14896.
    BgeeiO14896.
    CleanExiHS_IRF6.
    GenevestigatoriO14896.

    Interactioni

    Subunit structurei

    Interacts with SERPINB5.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    IRF8Q025563EBI-6115643,EBI-2866563

    Protein-protein interaction databases

    BioGridi109872. 9 interactions.
    IntActiO14896. 3 interactions.
    STRINGi9606.ENSP00000355988.

    Structurei

    3D structure databases

    ProteinModelPortaliO14896.
    SMRiO14896. Positions 12-112, 214-445.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the IRF family.PROSITE-ProRule annotation
    Contains 1 IRF tryptophan pentad repeat DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG45968.
    HOGENOMiHOG000037433.
    HOVERGENiHBG105715.
    InParanoidiO14896.
    KOiK10154.
    OMAiHEEENTI.
    OrthoDBiEOG7CCBR1.
    PhylomeDBiO14896.
    TreeFamiTF328512.

    Family and domain databases

    Gene3Di1.10.10.10. 1 hit.
    2.60.200.10. 1 hit.
    InterProiIPR019817. Interferon_reg_fac_CS.
    IPR001346. Interferon_reg_fact_DNA-bd_dom.
    IPR019471. Interferon_reg_factor-3.
    IPR017855. SMAD_dom-like.
    IPR008984. SMAD_FHA_domain.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF00605. IRF. 1 hit.
    PF10401. IRF-3. 1 hit.
    [Graphical view]
    PRINTSiPR00267. INTFRNREGFCT.
    SMARTiSM00348. IRF. 1 hit.
    [Graphical view]
    SUPFAMiSSF49879. SSF49879. 1 hit.
    PROSITEiPS00601. IRF_1. 1 hit.
    PS51507. IRF_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O14896-1) [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

    MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ    50
    EEENTIFKAW AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT 100
    KEVPMNPVKI YQVCDIPQPQ GSIINPGSTG SAPWDEKDND VDEEDEEDEL 150
    DQSQHHVPIQ DTFPFLNING SPMAPASVGN CSVGNCSPEA VWPKTEPLEM 200
    EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT MTVSNPQGCR 250
    LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 300
    GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET 350
    FLSDLIAHQK GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR 400
    MIYEMFSGDF TRSFDSGSVR LQISTPDIKD NIVAQLKQLY RILQTQESWQ 450
    PMQPTPSMQL PPALPPQ 467
    Length:467
    Mass (Da):53,130
    Last modified:January 1, 1998 - v1
    Checksum:i7E28F5E0F5BA4053
    GO
    Isoform 2 (identifier: O14896-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-95: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:372
    Mass (Da):41,930
    Checksum:i2AF7C0699CE42FF0
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2 – 21A → V in VWS1. 2 Publications
    Corresponds to variant rs28942093 [ dbSNP | Ensembl ].
    VAR_014961
    Natural varianti6 – 61R → C in VWS1. 1 Publication
    Corresponds to variant rs28942094 [ dbSNP | Ensembl ].
    VAR_030046
    Natural varianti16 – 161A → V in VWS1. 1 Publication
    VAR_030047
    Natural varianti18 – 181V → A in VWS1; abrogates DNA binding. 1 Publication
    VAR_014962
    Natural varianti18 – 181V → M in VWS1; abrogates DNA binding. 1 Publication
    VAR_014963
    Natural varianti22 – 221L → P in VWS1 and PPS; abrogates DNA binding. 1 Publication
    VAR_030048
    Natural varianti39 – 391P → A in VWS1. 1 Publication
    VAR_014964
    Natural varianti45 – 451R → Q in VWS1. 1 Publication
    Corresponds to variant rs121434229 [ dbSNP | Ensembl ].
    VAR_030049
    Natural varianti60 – 601W → G in PPS; abrogates DNA binding. 1 Publication
    VAR_014965
    Natural varianti61 – 611A → G in VWS1. 1 Publication
    VAR_014966
    Natural varianti64 – 641T → I in VWS1. 1 Publication
    VAR_030050
    Natural varianti66 – 661K → T in PPS. 1 Publication
    VAR_014967
    Natural varianti70 – 701G → R in VWS1; does not affect DNA binding. 1 Publication
    VAR_014968
    Natural varianti76 – 761P → S in VWS1; abrogates DNA binding. 1 Publication
    VAR_014969
    Natural varianti82 – 821Q → K in PPS. 1 Publication
    VAR_014970
    Natural varianti84 – 841R → C in PPS; abrogates DNA binding. 1 Publication
    VAR_014971
    Natural varianti84 – 841R → G in VWS1; abrogates DNA binding. 1 Publication
    VAR_030051
    Natural varianti84 – 841R → H in PPS; abrogates DNA binding. 1 Publication
    VAR_014972
    Natural varianti84 – 841R → L in PPS. 1 Publication
    VAR_064475
    Natural varianti88 – 881N → H in VWS1. 1 Publication
    VAR_014973
    Natural varianti89 – 891K → E in PPS; abrogates DNA binding. 1 Publication
    VAR_014974
    Natural varianti90 – 901S → G in VWS1. 1 Publication
    VAR_014975
    Natural varianti98 – 981D → H in VWS1; abrogates DNA binding. 1 Publication
    VAR_014976
    Natural varianti100 – 1001T → A in VWS1. 1 Publication
    VAR_030052
    Natural varianti250 – 2501R → Q in VWS1. 1 Publication
    VAR_014977
    Natural varianti251 – 2511L → P in VWS1. 1 Publication
    VAR_030053
    Natural varianti273 – 2731Q → R in VWS1. 1 Publication
    VAR_014978
    Natural varianti274 – 2741V → I Common polymorphism; 3% in European-descended and 22% in Asian populations; responsible for 12% of the genetic contribution to cleft lip or palate; tripled the risk of recurrence in families that already had 1 affected child. 3 Publications
    Corresponds to variant rs2235371 [ dbSNP | Ensembl ].
    VAR_014979
    Natural varianti290 – 2967FTSKLLD → L in VWS1.
    VAR_014980
    Natural varianti294 – 2941L → P in VWS1. 1 Publication
    VAR_014981
    Natural varianti297 – 2971V → I in VWS1. 1 Publication
    VAR_014982
    Natural varianti320 – 3201K → E in VWS1. 1 Publication
    VAR_014983
    Natural varianti321 – 3211V → M in VWS1. 1 Publication
    VAR_014984
    Natural varianti325 – 3251G → E in VWS1. 1 Publication
    VAR_014985
    Natural varianti339 – 3391R → I in VWS1. 1 Publication
    VAR_059080
    Natural varianti345 – 3451L → P in VWS1. 1 Publication
    VAR_014986
    Natural varianti347 – 3471C → F in VWS1. 1 Publication
    VAR_014987
    Natural varianti349 – 3491E → V in VWS1. 1 Publication
    VAR_030054
    Natural varianti369 – 3691F → S in VWS1 and OFC6. 2 Publications
    VAR_014988
    Natural varianti374 – 3741C → W in VWS1. 1 Publication
    VAR_014989
    Natural varianti388 – 3881K → E in VWS1. 1 Publication
    VAR_014990
    Natural varianti396 – 3961P → S in VWS1. 1 Publication
    VAR_030055
    Natural varianti400 – 4001R → W in VWS1. 1 Publication
    Corresponds to variant rs28942095 [ dbSNP | Ensembl ].
    VAR_030056
    Natural varianti424 – 4241S → L in PPS; significant decrease of transcriptional activity. 1 Publication
    VAR_064476
    Natural varianti430 – 4301D → N in PPS. 1 Publication
    VAR_014991

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9595Missing in isoform 2. 1 PublicationVSP_046435Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF027292 mRNA. Translation: AAB84111.1.
    JF346417 Genomic DNA. Translation: AEL89176.1.
    AK296960 mRNA. Translation: BAG59504.1.
    AL022398 Genomic DNA. Translation: CAA18545.1.
    CH471100 Genomic DNA. Translation: EAW93438.1.
    CH471100 Genomic DNA. Translation: EAW93439.1.
    BC014852 mRNA. Translation: AAH14852.1.
    CCDSiCCDS1492.1. [O14896-1]
    CCDS55681.1. [O14896-2]
    RefSeqiNP_001193625.1. NM_001206696.1. [O14896-2]
    NP_006138.1. NM_006147.3. [O14896-1]
    UniGeneiHs.591415.

    Genome annotation databases

    EnsembliENST00000367021; ENSP00000355988; ENSG00000117595. [O14896-1]
    ENST00000542854; ENSP00000440532; ENSG00000117595. [O14896-2]
    GeneIDi3664.
    KEGGihsa:3664.
    UCSCiuc001hhq.2. human. [O14896-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF027292 mRNA. Translation: AAB84111.1 .
    JF346417 Genomic DNA. Translation: AEL89176.1 .
    AK296960 mRNA. Translation: BAG59504.1 .
    AL022398 Genomic DNA. Translation: CAA18545.1 .
    CH471100 Genomic DNA. Translation: EAW93438.1 .
    CH471100 Genomic DNA. Translation: EAW93439.1 .
    BC014852 mRNA. Translation: AAH14852.1 .
    CCDSi CCDS1492.1. [O14896-1 ]
    CCDS55681.1. [O14896-2 ]
    RefSeqi NP_001193625.1. NM_001206696.1. [O14896-2 ]
    NP_006138.1. NM_006147.3. [O14896-1 ]
    UniGenei Hs.591415.

    3D structure databases

    ProteinModelPortali O14896.
    SMRi O14896. Positions 12-112, 214-445.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109872. 9 interactions.
    IntActi O14896. 3 interactions.
    STRINGi 9606.ENSP00000355988.

    PTM databases

    PhosphoSitei O14896.

    Proteomic databases

    MaxQBi O14896.
    PaxDbi O14896.
    PeptideAtlasi O14896.
    PRIDEi O14896.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367021 ; ENSP00000355988 ; ENSG00000117595 . [O14896-1 ]
    ENST00000542854 ; ENSP00000440532 ; ENSG00000117595 . [O14896-2 ]
    GeneIDi 3664.
    KEGGi hsa:3664.
    UCSCi uc001hhq.2. human. [O14896-1 ]

    Organism-specific databases

    CTDi 3664.
    GeneCardsi GC01M209959.
    GeneReviewsi IRF6.
    HGNCi HGNC:6121. IRF6.
    MIMi 119300. phenotype.
    119500. phenotype.
    607199. gene.
    608864. phenotype.
    neXtProti NX_O14896.
    Orphaneti 1300. Autosomal dominant popliteal pterygium syndrome.
    1991. Cleft lip with or without cleft palate.
    2227. Hypodontia.
    99798. Oligodontia.
    888. Van der Woude syndrome.
    PharmGKBi PA29920.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45968.
    HOGENOMi HOG000037433.
    HOVERGENi HBG105715.
    InParanoidi O14896.
    KOi K10154.
    OMAi HEEENTI.
    OrthoDBi EOG7CCBR1.
    PhylomeDBi O14896.
    TreeFami TF328512.

    Enzyme and pathway databases

    Reactomei REACT_25078. Interferon gamma signaling.
    REACT_25162. Interferon alpha/beta signaling.

    Miscellaneous databases

    ChiTaRSi IRF6. human.
    GeneWikii IRF6.
    GenomeRNAii 3664.
    NextBioi 14343.
    PROi O14896.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14896.
    Bgeei O14896.
    CleanExi HS_IRF6.
    Genevestigatori O14896.

    Family and domain databases

    Gene3Di 1.10.10.10. 1 hit.
    2.60.200.10. 1 hit.
    InterProi IPR019817. Interferon_reg_fac_CS.
    IPR001346. Interferon_reg_fact_DNA-bd_dom.
    IPR019471. Interferon_reg_factor-3.
    IPR017855. SMAD_dom-like.
    IPR008984. SMAD_FHA_domain.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF00605. IRF. 1 hit.
    PF10401. IRF-3. 1 hit.
    [Graphical view ]
    PRINTSi PR00267. INTFRNREGFCT.
    SMARTi SM00348. IRF. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49879. SSF49879. 1 hit.
    PROSITEi PS00601. IRF_1. 1 hit.
    PS51507. IRF_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Grossman A., Mittrucker H.W., Antonio L., Ozato K., Mak T.W.
      Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Homo sapiens interferon regulatory factor 6 (IRF6) gene sequence from Hakka population in Guangdong Province, South China."
      Wang H., Wu W., Hua L., Li F., Chen Y., Cui Y.
      Submitted (FEB-2011) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-274.
    3. "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] (ISOFORM 2), VARIANT ILE-274.
      Tissue: Tongue.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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).
      Tissue: Placenta.
    7. "Mammary serine protease inhibitor (Maspin) binds directly to interferon regulatory factor 6: identification of a novel serpin partnership."
      Bailey C.M., Khalkhali-Ellis Z., Kondo S., Margaryan N.V., Seftor R.E.B., Wheaton W.W., Amir S., Pins M.R., Schutte B.C., Hendrix M.J.C.
      J. Biol. Chem. 280:34210-34217(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SERPINB5, PHOSPHORYLATION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    8. "Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent manner."
      Bailey C.M., Abbott D.E., Margaryan N.V., Khalkhali-Ellis Z., Hendrix M.J.C.
      Mol. Cell. Biol. 28:2235-2243(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, UBIQUITINATION, PHOSPHORYLATION.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: VARIANTS VWS1 VAL-2; ALA-18; MET-18; ALA-39; GLY-61; ARG-70; SER-76; HIS-88; GLY-90; HIS-98; GLN-250; ARG-273; 290-PHE--ASP-296 DELINS LEU; PRO-294; ILE-297; GLU-320; MET-321; GLU-325; PRO-345; PHE-347; SER-369; TRP-374 AND GLU-388, VARIANTS PPS GLY-60; THR-66; LYS-82; CYS-84; HIS-84; GLU-89 AND ASN-430, VARIANT ILE-274.
    11. "Novel mutations in the IRF6 gene for Van der Woude syndrome."
      Wang X., Liu J., Zhang H., Xiao M., Li J., Yang C., Lin X., Wu Z., Hu L., Kong X.
      Hum. Genet. 113:382-386(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VWS1 VAL-2; CYS-6 AND TRP-400.
    12. "Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium."
      Ghassibe M., Revencu N., Bayet B., Gillerot Y., Vanwijck R., Verellen-Dumoulin C., Vikkula M.
      Hum. Genet. 113:558-558(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VWS1 VAL-16; ILE-64; ALA-100 AND PRO-251, VARIANT VWS1/PPS PRO-22.
    13. "Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion."
      Kayano S., Kure S., Suzuki Y., Kanno K., Aoki Y., Kondo S., Schutte B.C., Murray J.C., Yamada A., Matsubara Y.
      J. Hum. Genet. 48:622-628(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VWS1 GLN-45 AND SER-396.
    14. "Gene symbol: IRF6. Disease: Van der Woude syndrome."
      Item C.B., Turhani D., Thurnher D., Sinko K., Yerit K., Galev K., Wittwer G., Lanre Adeyemo W., Klemens F., Ewers R., Watzinger F.
      Hum. Genet. 115:175-175(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VWS1 GLY-84.
    15. Cited for: ASSOCIATION OF VARIANT ILE-274 WITH OFC6.
    16. "A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis."
      Matsuzawa N., Shimozato K., Natsume N., Niikawa N., Yoshiura K.
      J. Dent. Res. 85:1143-1146(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VWS1 VAL-349.
    17. "A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia."
      de Medeiros F., Hansen L., Mawlad E., Eiberg H., Asklund C., Tommerup N., Jakobsen L.P.
      Am. J. Med. Genet. A 146:1605-1608(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VWS1 ILE-339.
    18. "Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6."
      Little H.J., Rorick N.K., Su L.-I., Baldock C., Malhotra S., Jowitt T., Gakhar L., Subramanian R., Schutte B.C., Dixon M.J., Shore P.
      Hum. Mol. Genet. 18:535-545(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS VWS1/PPS ALA-18; MET-18; PRO-22; GLY-60; ARG-70; SER-76; CYS-84; GLY-84; HIS-84; GLU-89 AND HIS-98.
    19. "Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome."
      Matsuzawa N., Kondo S., Shimozato K., Nagao T., Nakano M., Tsuda M., Hirano A., Niikawa N., Yoshiura K.
      Am. J. Med. Genet. A 152:2262-2267(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PPS LEU-84 AND LEU-424, CHARACTERIZATION OF VARIANT PPS LEU-424.
    20. Cited for: VARIANT OFC6 SER-369.

    Entry informationi

    Entry nameiIRF6_HUMAN
    AccessioniPrimary (citable) accession number: O14896
    Secondary accession number(s): B4DLE2
    , D3DT90, F5GWX8, G0ZTL0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 142 of the entry and version 1 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 1
      Human chromosome 1: 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