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Q12951

- FOXI1_HUMAN

UniProt

Q12951 - FOXI1_HUMAN

Protein

Forkhead box protein I1

Gene

FOXI1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 3 (26 Jun 2007)
      Previous versions | rss
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    Functioni

    Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi123 – 21795Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. embryo development Source: UniProtKB
    2. inner ear morphogenesis Source: Ensembl
    3. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    4. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ12951.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein I1
    Alternative name(s):
    Forkhead-related protein FKHL10
    Forkhead-related transcription factor 6
    Short name:
    FREAC-6
    Hepatocyte nuclear factor 3 forkhead homolog 3
    Short name:
    HFH-3
    Short name:
    HNF-3/fork-head homolog 3
    Gene namesi
    Name:FOXI1
    Synonyms:FKHL10, FREAC6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:3815. FOXI1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti705. Pendred syndrome.
    PharmGKBiPA28232.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 378378Forkhead box protein I1PRO_0000091846Add
    BLAST

    Proteomic databases

    PaxDbiQ12951.
    PRIDEiQ12951.

    PTM databases

    PhosphoSiteiQ12951.

    Expressioni

    Tissue specificityi

    Expressed in kidney.

    Gene expression databases

    ArrayExpressiQ12951.
    BgeeiQ12951.
    CleanExiHS_FOXI1.
    GenevestigatoriQ12951.

    Interactioni

    Protein-protein interaction databases

    BioGridi108588. 2 interactions.
    STRINGi9606.ENSP00000304286.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12951.
    SMRiQ12951. Positions 121-212.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi7 – 9791Pro-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5025.
    HOGENOMiHOG000236333.
    HOVERGENiHBG067944.
    InParanoidiQ12951.
    KOiK09401.
    OMAiQAYGVQR.
    OrthoDBiEOG7T4MKQ.
    PhylomeDBiQ12951.
    TreeFamiTF316127.

    Family and domain databases

    Gene3Di1.10.10.10. 1 hit.
    InterProiIPR001766. TF_fork_head.
    IPR018122. TF_fork_head_CS.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF00250. Fork_head. 1 hit.
    [Graphical view]
    PRINTSiPR00053. FORKHEAD.
    SMARTiSM00339. FH. 1 hit.
    [Graphical view]
    PROSITEiPS00657. FORK_HEAD_1. 1 hit.
    PS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q12951-1) [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

    MSSFDLPAPS PPRCSPQFPS IGQEPPEMNL YYENFFHPQG VPSPQRPSFE    50
    GGGEYGATPN PYLWFNGPTM TPPPYLPGPN ASPFLPQAYG VQRPLLPSVS 100
    GLGGSDLGWL PIPSQEELMK LVRPPYSYSA LIAMAIHGAP DKRLTLSQIY 150
    QYVADNFPFY NKSKAGWQNS IRHNLSLNDC FKKVPRDEDD PGKGNYWTLD 200
    PNCEKMFDNG NFRRKRKRKS DVSSSTASLA LEKTESSLPV DSPKTTEPQD 250
    ILDGASPGGT TSSPEKRPSP PPSGAPCLNS FLSSMTAYVS GGSPTSHPLV 300
    TPGLSPEPSD KTGQNSLTFN SFSPLTNLSN HSGGGDWANP MPTNMLSYGG 350
    SVLSQFSPHF YNSVNTSGVL YPREGTEV 378
    Length:378
    Mass (Da):40,973
    Last modified:June 26, 2007 - v3
    Checksum:iD99835F8A296F11C
    GO
    Isoform 2 (identifier: Q12951-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         192-286: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:283
    Mass (Da):30,814
    Checksum:iC0FEE52216219610
    GO

    Sequence cautioni

    The sequence AAB50574.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAU12169.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2 – 43SSF → NSG in AAB50574. (PubMed:9153225)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti243 – 2431P → S.
    Corresponds to variant rs35678180 [ dbSNP | Ensembl ].
    VAR_049160
    Natural varianti362 – 3621N → S.
    Corresponds to variant rs3828625 [ dbSNP | Ensembl ].
    VAR_049161

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei192 – 28695Missing in isoform 2. 2 PublicationsVSP_001543Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC029778 mRNA. Translation: AAH29778.2.
    L13203 mRNA. Translation: AAB50574.1. Different initiation.
    AY707089 mRNA. Translation: AAU12169.1. Different initiation.
    U13224 Genomic DNA. Translation: AAA92041.1.
    CCDSiCCDS4372.1. [Q12951-1]
    CCDS47337.1. [Q12951-2]
    PIRiA47450.
    S51629.
    RefSeqiNP_036320.2. NM_012188.4. [Q12951-1]
    NP_658982.1. NM_144769.2. [Q12951-2]
    UniGeneiHs.87236.

    Genome annotation databases

    EnsembliENST00000306268; ENSP00000304286; ENSG00000168269. [Q12951-1]
    ENST00000449804; ENSP00000415483; ENSG00000168269. [Q12951-2]
    GeneIDi2299.
    KEGGihsa:2299.
    UCSCiuc003mai.4. human. [Q12951-1]
    uc003maj.4. human. [Q12951-2]

    Polymorphism databases

    DMDMi150421552.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC029778 mRNA. Translation: AAH29778.2 .
    L13203 mRNA. Translation: AAB50574.1 . Different initiation.
    AY707089 mRNA. Translation: AAU12169.1 . Different initiation.
    U13224 Genomic DNA. Translation: AAA92041.1 .
    CCDSi CCDS4372.1. [Q12951-1 ]
    CCDS47337.1. [Q12951-2 ]
    PIRi A47450.
    S51629.
    RefSeqi NP_036320.2. NM_012188.4. [Q12951-1 ]
    NP_658982.1. NM_144769.2. [Q12951-2 ]
    UniGenei Hs.87236.

    3D structure databases

    ProteinModelPortali Q12951.
    SMRi Q12951. Positions 121-212.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108588. 2 interactions.
    STRINGi 9606.ENSP00000304286.

    PTM databases

    PhosphoSitei Q12951.

    Polymorphism databases

    DMDMi 150421552.

    Proteomic databases

    PaxDbi Q12951.
    PRIDEi Q12951.

    Protocols and materials databases

    DNASUi 2299.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000306268 ; ENSP00000304286 ; ENSG00000168269 . [Q12951-1 ]
    ENST00000449804 ; ENSP00000415483 ; ENSG00000168269 . [Q12951-2 ]
    GeneIDi 2299.
    KEGGi hsa:2299.
    UCSCi uc003mai.4. human. [Q12951-1 ]
    uc003maj.4. human. [Q12951-2 ]

    Organism-specific databases

    CTDi 2299.
    GeneCardsi GC05P169465.
    GeneReviewsi FOXI1.
    HGNCi HGNC:3815. FOXI1.
    MIMi 601093. gene.
    neXtProti NX_Q12951.
    Orphaneti 705. Pendred syndrome.
    PharmGKBi PA28232.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOGENOMi HOG000236333.
    HOVERGENi HBG067944.
    InParanoidi Q12951.
    KOi K09401.
    OMAi QAYGVQR.
    OrthoDBi EOG7T4MKQ.
    PhylomeDBi Q12951.
    TreeFami TF316127.

    Enzyme and pathway databases

    SignaLinki Q12951.

    Miscellaneous databases

    GeneWikii FOXI1.
    GenomeRNAii 2299.
    NextBioi 9331.
    PROi Q12951.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12951.
    Bgeei Q12951.
    CleanExi HS_FOXI1.
    Genevestigatori Q12951.

    Family and domain databases

    Gene3Di 1.10.10.10. 1 hit.
    InterProi IPR001766. TF_fork_head.
    IPR018122. TF_fork_head_CS.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF00250. Fork_head. 1 hit.
    [Graphical view ]
    PRINTSi PR00053. FORKHEAD.
    SMARTi SM00339. FH. 1 hit.
    [Graphical view ]
    PROSITEi PS00657. FORK_HEAD_1. 1 hit.
    PS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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 2).
      Tissue: Colon and Kidney.
    2. "The winged helix transcriptional activator HFH-3 is expressed in the distal tubules of embryonic and adult mouse kidney."
      Overdier D.G., Ye H., Peterson R.S., Clevidence D.E., Costa R.H.
      J. Biol. Chem. 272:13725-13730(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-378 (ISOFORM 1).
      Tissue: Kidney.
    3. Perez-Pinera P., Bray T.L., Vega J.A., Deuel T.F.
      Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 28-378 (ISOFORM 2).
    4. "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending."
      Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.
      EMBO J. 13:5002-5012(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-193.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiFOXI1_HUMAN
    AccessioniPrimary (citable) accession number: Q12951
    Secondary accession number(s): Q14518, Q66SR7, Q8N6L8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: June 26, 2007
    Last modified: October 1, 2014
    This is version 132 of the entry and version 3 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 5
      Human chromosome 5: 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