Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O75593

- FOXH1_HUMAN

UniProt

O75593 - FOXH1_HUMAN

Protein

Forkhead box protein H1

Gene

FOXH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element).1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi32 – 12897Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. androgen receptor binding Source: BHF-UCL
    2. bHLH transcription factor binding Source: BHF-UCL
    3. co-SMAD binding Source: BHF-UCL
    4. enhancer binding Source: BHF-UCL
    5. protein binding Source: UniProtKB
    6. protein domain specific binding Source: UniProtKB
    7. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    8. RNA polymerase II transcription cofactor activity Source: Ensembl
    9. RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    10. R-SMAD binding Source: BHF-UCL
    11. sequence-specific DNA binding Source: UniProtKB
    12. sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    13. SMAD binding Source: BHF-UCL
    14. transcription regulatory region DNA binding Source: BHF-UCL

    GO - Biological processi

    1. aorta morphogenesis Source: Ensembl
    2. axial mesoderm development Source: Ensembl
    3. cardiac right ventricle morphogenesis Source: Ensembl
    4. embryonic heart tube anterior/posterior pattern specification Source: Ensembl
    5. negative regulation of androgen receptor activity Source: BHF-UCL
    6. negative regulation of androgen receptor signaling pathway Source: BHF-UCL
    7. negative regulation of intracellular estrogen receptor signaling pathway Source: BHF-UCL
    8. nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry Source: BHF-UCL
    9. outflow tract morphogenesis Source: Ensembl
    10. positive regulation of transcription, DNA-templated Source: UniProtKB
    11. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    12. secondary heart field specification Source: Ensembl
    13. transforming growth factor beta receptor signaling pathway Source: UniProtKB
    14. ventricular trabecula myocardium morphogenesis Source: Ensembl

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_111057. Signaling by NODAL.
    REACT_150238. Signaling by Activin.
    SignaLinkiO75593.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein H1
    Alternative name(s):
    Forkhead activin signal transducer 1
    Short name:
    Fast-1
    Short name:
    hFAST-1
    Forkhead activin signal transducer 2
    Short name:
    Fast-2
    Gene namesi
    Name:FOXH1
    Synonyms:FAST1, FAST2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:3814. FOXH1.

    Subcellular locationi

    GO - Cellular componenti

    1. activin responsive factor complex Source: BHF-UCL
    2. nuclear chromatin Source: BHF-UCL
    3. nucleoplasm Source: Reactome
    4. nucleus Source: UniProtKB
    5. transcription factor complex Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi83 – 831H → R: Loss of activity. 1 Publication

    Organism-specific databases

    Orphaneti93925. Alobar holoprosencephaly.
    93924. Lobar holoprosencephaly.
    280200. Microform holoprosencephaly.
    93926. Midline interhemispheric variant of holoprosencephaly.
    220386. Semilobar holoprosencephaly.
    280195. Septopreoptic holoprosencephaly.
    PharmGKBiPA28231.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 365365Forkhead box protein H1PRO_0000091842Add
    BLAST

    Proteomic databases

    PaxDbiO75593.
    PRIDEiO75593.

    Expressioni

    Tissue specificityi

    Ubiquitous.1 Publication

    Gene expression databases

    BgeeiO75593.
    CleanExiHS_FOXH1.
    GenevestigatoriO75593.

    Interactioni

    Subunit structurei

    Interacts with the MH2 domains of SMAD2 and SMAD3.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NCK1P163332EBI-1759806,EBI-389883
    TCF12Q990812EBI-1759806,EBI-722877
    TCF3P159232EBI-1759806,EBI-769630

    Protein-protein interaction databases

    BioGridi114442. 9 interactions.
    IntActiO75593. 6 interactions.
    MINTiMINT-199205.
    STRINGi9606.ENSP00000366534.

    Structurei

    3D structure databases

    ProteinModelPortaliO75593.
    SMRiO75593. Positions 33-111.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni273 – 35482SMAD-interaction domain (SID)Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi277 – 2815Fast/FoxH1 motif 1 (FM1)
    Motifi287 – 2937Fast/FoxH1 motif 2 (FM2)
    Motifi327 – 34822SMAD interaction motif (SIM)Add
    BLAST

    Domaini

    The FM region is required for binding SMAD2/SMAD4 complexes. FM2 is more effective than FM1 and only interacts with phosphorylated SMAD2 that is in an activated SMAD complex By similarity.By similarity

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiCOG5025.
    HOGENOMiHOG000112630.
    HOVERGENiHBG051647.
    InParanoidiO75593.
    KOiK09400.
    OMAiNLSSNPC.
    OrthoDBiEOG76HQ1T.
    PhylomeDBiO75593.
    TreeFamiTF350620.

    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]
    PROSITEiPS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O75593-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGPCSGSRLG PPEAESPSQP PKRRKKRYLR HDKPPYTYLA MIALVIQAAP    50
    SRRLKLAQII RQVQAVFPFF REDYEGWKDS IRHNLSSNRC FRKVPKDPAK 100
    PQAKGNFWAV DVSLIPAEAL RLQNTALCRR WQNGGARGAF AKDLGPYVLH 150
    GRPYRPPSPP PPPSEGFSIK SLLGGSGEGA PWPGLAPQSS PVPAGTGNSG 200
    EEAVPTPPLP SSERPLWPLC PLPGPTRVEG ETVQGGAIGP STLSPEPRAW 250
    PLHLLQGTAV PGGRSSGGHR ASLWGQLPTS YLPIYTPNVV MPLAPPPTSC 300
    PQCPSTSPAY WGVAPETRGP PGLLCDLDAL FQGVPPNKSI YDVWVSHPRD 350
    LAAPGPGWLL SWCSL 365
    Length:365
    Mass (Da):39,257
    Last modified:November 1, 1998 - v1
    Checksum:i27A13F39C089F722
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti113 – 1131S → T in colorectal cancer. 1 Publication
    Corresponds to variant rs144830740 [ dbSNP | Ensembl ].
    VAR_011381
    Natural varianti125 – 1251T → S in colorectal cancer. 1 Publication
    Corresponds to variant rs112028242 [ dbSNP | Ensembl ].
    VAR_011382

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF076292 mRNA. Translation: AAC34303.1.
    CH471162 Genomic DNA. Translation: EAW82083.1.
    CH471162 Genomic DNA. Translation: EAW82084.1.
    CCDSiCCDS6428.1.
    RefSeqiNP_003914.1. NM_003923.2.
    UniGeneiHs.708365.

    Genome annotation databases

    EnsembliENST00000377317; ENSP00000366534; ENSG00000160973.
    GeneIDi8928.
    KEGGihsa:8928.
    UCSCiuc003zdc.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF076292 mRNA. Translation: AAC34303.1 .
    CH471162 Genomic DNA. Translation: EAW82083.1 .
    CH471162 Genomic DNA. Translation: EAW82084.1 .
    CCDSi CCDS6428.1.
    RefSeqi NP_003914.1. NM_003923.2.
    UniGenei Hs.708365.

    3D structure databases

    ProteinModelPortali O75593.
    SMRi O75593. Positions 33-111.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114442. 9 interactions.
    IntActi O75593. 6 interactions.
    MINTi MINT-199205.
    STRINGi 9606.ENSP00000366534.

    Proteomic databases

    PaxDbi O75593.
    PRIDEi O75593.

    Protocols and materials databases

    DNASUi 8928.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377317 ; ENSP00000366534 ; ENSG00000160973 .
    GeneIDi 8928.
    KEGGi hsa:8928.
    UCSCi uc003zdc.3. human.

    Organism-specific databases

    CTDi 8928.
    GeneCardsi GC08M145698.
    GeneReviewsi FOXH1.
    HGNCi HGNC:3814. FOXH1.
    MIMi 603621. gene.
    neXtProti NX_O75593.
    Orphaneti 93925. Alobar holoprosencephaly.
    93924. Lobar holoprosencephaly.
    280200. Microform holoprosencephaly.
    93926. Midline interhemispheric variant of holoprosencephaly.
    220386. Semilobar holoprosencephaly.
    280195. Septopreoptic holoprosencephaly.
    PharmGKBi PA28231.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOGENOMi HOG000112630.
    HOVERGENi HBG051647.
    InParanoidi O75593.
    KOi K09400.
    OMAi NLSSNPC.
    OrthoDBi EOG76HQ1T.
    PhylomeDBi O75593.
    TreeFami TF350620.

    Enzyme and pathway databases

    Reactomei REACT_111057. Signaling by NODAL.
    REACT_150238. Signaling by Activin.
    SignaLinki O75593.

    Miscellaneous databases

    GeneWikii FOXH1.
    GenomeRNAii 8928.
    NextBioi 33570.
    PROi O75593.
    SOURCEi Search...

    Gene expression databases

    Bgeei O75593.
    CleanExi HS_FOXH1.
    Genevestigatori O75593.

    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 PS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of human FAST-1, a TGF beta and activin signal transducer."
      Zhou S., Zawel L., Lengauer C., Kinzler K.W., Vogelstein B.
      Mol. Cell 2:121-127(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DNA-BINDING, INTERACTION WITH SMAD2, TISSUE SPECIFICITY, MUTAGENESIS OF HIS-83, VARIANTS COLORECTAL CANCER THR-113 AND COLORECTAL CANCER SER-125.
      Tissue: Colon adenocarcinoma.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiFOXH1_HUMAN
    AccessioniPrimary (citable) accession number: O75593
    Secondary accession number(s): D3DWM4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 127 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 8
      Human chromosome 8: 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