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Q12952

- FOXL1_HUMAN

UniProt

Q12952 - FOXL1_HUMAN

Protein

Forkhead box protein L1

Gene

FOXL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (27 Apr 2001)
      Previous versions | rss
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    Functioni

    Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi48 – 13992Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. heart development Source: DFLAT
    2. multicellular organismal development Source: UniProtKB
    3. organ morphogenesis Source: UniProtKB
    4. Peyer's patch morphogenesis Source: Ensembl
    5. proteoglycan biosynthetic process Source: UniProtKB
    6. regulation of Wnt signaling pathway Source: UniProtKB
    7. transcription, DNA-templated Source: UniProtKB-KW
    8. visceral mesoderm-endoderm interaction involved in midgut development Source: UniProtKB

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ12952.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein L1
    Alternative name(s):
    Forkhead-related protein FKHL11
    Forkhead-related transcription factor 7
    Short name:
    FREAC-7
    Gene namesi
    Name:FOXL1
    Synonyms:FKHL11, FREAC7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:3817. FOXL1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28234.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 345345Forkhead box protein L1PRO_0000091859Add
    BLAST

    Proteomic databases

    PaxDbiQ12952.
    PRIDEiQ12952.

    Expressioni

    Gene expression databases

    ArrayExpressiQ12952.
    BgeeiQ12952.
    CleanExiHS_FOXL1.
    GenevestigatoriQ12952.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000326272.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12952.
    SMRiQ12952. Positions 49-138.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiCOG5025.
    HOGENOMiHOG000112632.
    HOVERGENiHBG051650.
    InParanoidiQ12952.
    KOiK09405.
    OMAiPFLSYFP.
    PhylomeDBiQ12952.
    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]

    Sequencei

    Sequence statusi: Complete.

    Q12952-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSHLFDPRLP ALAASPMLYL YGPERPGLPL AFAPAAALAA SGRAETPQKP    50
    PYSYIALIAM AIQDAPEQRV TLNGIYQFIM DRFPFYHDNR QGWQNSIRHN 100
    LSLNDCFVKV PREKGRPGKG SYWTLDPRCL DMFENGNYRR RKRKPKPGPG 150
    APEAKRPRAE THQRSAEAQP EAGSGAGGSG PAISRLQAAP AGPSPLLDGP 200
    SPPAPLHWPG TASPNEDAGD AAQGAAAVAV GQAARTGDGP GSPLRPASRS 250
    SPKSSDKSKS FSIDSILAGK QGQKPPSGDE LLGGAKPGPG GRLGASLLAA 300
    SSSLRPPFNA SLMLDPHVQG GFYQLGIPFL SYFPLQVPDT VLHFQ 345
    Length:345
    Mass (Da):36,490
    Last modified:April 27, 2001 - v2
    Checksum:i015D86B57DF3BBC6
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF315075 Genomic DNA. Translation: AAG40312.1.
    AC009108 Genomic DNA. No translation available.
    BC117226 mRNA. Translation: AAI17227.1.
    U13225 Genomic DNA. Translation: AAA92042.1.
    CCDSiCCDS10959.1.
    PIRiS51630.
    RefSeqiNP_005241.1. NM_005250.2.
    UniGeneiHs.533830.

    Genome annotation databases

    EnsembliENST00000320241; ENSP00000326272; ENSG00000176678.
    GeneIDi2300.
    KEGGihsa:2300.
    UCSCiuc002fjr.3. human.

    Polymorphism databases

    DMDMi13638268.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF315075 Genomic DNA. Translation: AAG40312.1 .
    AC009108 Genomic DNA. No translation available.
    BC117226 mRNA. Translation: AAI17227.1 .
    U13225 Genomic DNA. Translation: AAA92042.1 .
    CCDSi CCDS10959.1.
    PIRi S51630.
    RefSeqi NP_005241.1. NM_005250.2.
    UniGenei Hs.533830.

    3D structure databases

    ProteinModelPortali Q12952.
    SMRi Q12952. Positions 49-138.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000326272.

    Polymorphism databases

    DMDMi 13638268.

    Proteomic databases

    PaxDbi Q12952.
    PRIDEi Q12952.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320241 ; ENSP00000326272 ; ENSG00000176678 .
    GeneIDi 2300.
    KEGGi hsa:2300.
    UCSCi uc002fjr.3. human.

    Organism-specific databases

    CTDi 2300.
    GeneCardsi GC16P086612.
    HGNCi HGNC:3817. FOXL1.
    MIMi 603252. gene.
    neXtProti NX_Q12952.
    PharmGKBi PA28234.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOGENOMi HOG000112632.
    HOVERGENi HBG051650.
    InParanoidi Q12952.
    KOi K09405.
    OMAi PFLSYFP.
    PhylomeDBi Q12952.
    TreeFami TF316127.

    Enzyme and pathway databases

    SignaLinki Q12952.

    Miscellaneous databases

    GenomeRNAii 2300.
    NextBioi 9337.
    PROi Q12952.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12952.
    Bgeei Q12952.
    CleanExi HS_FOXL1.
    Genevestigatori Q12952.

    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. "Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome."
      Fang J., Dagenais S.L., Erickson R.P., Arlt M.F., Glynn M.W., Gorski J.L., Seaver L.H., Glover T.W.
      Am. J. Hum. Genet. 67:1382-1388(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
    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 44-149.

    Entry informationi

    Entry nameiFOXL1_HUMAN
    AccessioniPrimary (citable) accession number: Q12952
    Secondary accession number(s): Q17RR1, Q9H242
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: April 27, 2001
    Last modified: October 1, 2014
    This is version 118 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 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3