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Q12946

- FOXF1_HUMAN

UniProt

Q12946 - FOXF1_HUMAN

Protein

Forkhead box protein F1

Gene

FOXF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 2 (26 May 2009)
      Previous versions | rss
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    Functioni

    Probable transcription activator for a number of lung-specific genes.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi47 – 13892Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
    3. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
    4. sequence-specific DNA binding Source: UniProtKB

    GO - Biological processi

    1. blood vessel development Source: DFLAT
    2. branching involved in open tracheal system development Source: DFLAT
    3. cardiac left ventricle morphogenesis Source: DFLAT
    4. cellular response to cytokine stimulus Source: Ensembl
    5. cellular response to organic cyclic compound Source: Ensembl
    6. detection of wounding Source: Ensembl
    7. determination of left/right symmetry Source: Ensembl
    8. digestive tract development Source: DFLAT
    9. ductus arteriosus closure Source: DFLAT
    10. embryonic digestive tract morphogenesis Source: DFLAT
    11. embryonic ectodermal digestive tract morphogenesis Source: DFLAT
    12. embryonic foregut morphogenesis Source: Ensembl
    13. endocardial cushion development Source: DFLAT
    14. epithelial cell differentiation involved in mammary gland alveolus development Source: Ensembl
    15. epithelial tube branching involved in lung morphogenesis Source: Ensembl
    16. establishment of epithelial cell apical/basal polarity Source: Ensembl
    17. extracellular matrix organization Source: Ensembl
    18. heart development Source: DFLAT
    19. in utero embryonic development Source: DFLAT
    20. lateral mesodermal cell differentiation Source: Ensembl
    21. lung alveolus development Source: Ensembl
    22. lung development Source: DFLAT
    23. lung lobe morphogenesis Source: Ensembl
    24. lung vasculature development Source: DFLAT
    25. mesenchyme migration Source: Ensembl
    26. midgut development Source: DFLAT
    27. morphogenesis of a branching structure Source: DFLAT
    28. negative regulation of inflammatory response Source: Ensembl
    29. negative regulation of mast cell degranulation Source: Ensembl
    30. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    31. pancreas development Source: DFLAT
    32. positive regulation of cell migration Source: Ensembl
    33. positive regulation of cell-substrate adhesion Source: Ensembl
    34. positive regulation of mesenchymal cell proliferation Source: Ensembl
    35. positive regulation of transcription, DNA-templated Source: UniProtKB
    36. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
    37. regulation of smooth muscle cell differentiation Source: Ensembl
    38. renal system development Source: DFLAT
    39. respiratory tube development Source: DFLAT
    40. right lung morphogenesis Source: Ensembl
    41. single organismal cell-cell adhesion Source: Ensembl
    42. smoothened signaling pathway Source: Ensembl
    43. smooth muscle cell differentiation Source: Ensembl
    44. somitogenesis Source: Ensembl
    45. trachea development Source: Ensembl
    46. ureter development Source: DFLAT
    47. vasculogenesis Source: Ensembl
    48. venous blood vessel development Source: DFLAT

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ12946.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein F1
    Alternative name(s):
    Forkhead-related activator 1
    Short name:
    FREAC-1
    Forkhead-related protein FKHL5
    Forkhead-related transcription factor 1
    Gene namesi
    Name:FOXF1
    Synonyms:FKHL5, FREAC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:3809. FOXF1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB
    2. transcription factor complex Source: ProtInc

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]: A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491P → Q in ACDMPV. 1 Publication
    VAR_071016
    Natural varianti49 – 491P → S in ACDMPV. 1 Publication
    VAR_071017
    Natural varianti52 – 521S → F in ACDMPV. 1 Publication
    VAR_071018
    Natural varianti53 – 531Y → C in ACDMPV. 1 Publication
    VAR_071019
    Natural varianti74 – 741I → N in ACDMPV. 1 Publication
    VAR_071020
    Natural varianti85 – 851F → I in ACDMPV. 1 Publication
    VAR_071021
    Natural varianti85 – 851F → L in ACDMPV. 1 Publication
    VAR_071022
    Natural varianti85 – 851F → S in ACDMPV. 1 Publication
    VAR_071023
    Natural varianti86 – 861R → W in ACDMPV. 1 Publication
    VAR_071024
    Natural varianti91 – 911G → E in ACDMPV. 1 Publication
    VAR_071025
    Natural varianti91 – 911G → V in ACDMPV. 1 Publication
    VAR_071026
    Natural varianti96 – 961V → M in ACDMPV. 1 Publication
    VAR_071027
    Natural varianti97 – 971R → H in ACDMPV. 1 Publication
    VAR_071028
    Natural varianti98 – 981H → Q in ACDMPV. 1 Publication
    VAR_071029
    Natural varianti101 – 1011S → L in ACDMPV. 1 Publication
    VAR_071030
    Natural varianti106 – 1061F → L in ACDMPV. 1 Publication
    VAR_071031
    Natural varianti113 – 1197Missing in ACDMPV.
    VAR_071032
    Natural varianti119 – 1191G → D in ACDMPV. 1 Publication
    VAR_071033
    Natural varianti126 – 1261P → L in ACDMPV. 1 Publication
    VAR_071034
    Natural varianti139 – 1391R → L in ACDMPV. 1 Publication
    VAR_071035
    Natural varianti330 – 3301R → W in ACDMPV; unknown pathological significance. 1 Publication
    VAR_071036

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi265380. phenotype.
    Orphaneti210122. Congenital alveolar capillary dysplasia.
    PharmGKBiPA28226.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 379379Forkhead box protein F1PRO_0000091832Add
    BLAST

    Proteomic databases

    MaxQBiQ12946.
    PaxDbiQ12946.
    PRIDEiQ12946.

    PTM databases

    PhosphoSiteiQ12946.

    Expressioni

    Tissue specificityi

    Expressed in lung and placenta.1 Publication

    Developmental stagei

    Expressed in fetal lung.1 Publication

    Gene expression databases

    BgeeiQ12946.
    CleanExiHS_FOXF1.
    GenevestigatoriQ12946.

    Organism-specific databases

    HPAiHPA028886.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000262426.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12946.
    SMRiQ12946. Positions 48-137.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domaini

    Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation.

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiCOG5025.
    HOGENOMiHOG000060124.
    HOVERGENiHBG051644.
    InParanoidiQ12946.
    KOiK09399.
    OMAiMTAEVQQ.
    OrthoDBiEOG7D59PX.
    PhylomeDBiQ12946.
    TreeFamiTF351598.

    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.

    Q12946-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSSAPEKQQP PHGGGGGGGG GGGAAMDPAS SGPSKAKKTN AGIRRPEKPP    50
    YSYIALIVMA IQSSPTKRLT LSEIYQFLQS RFPFFRGSYQ GWKNSVRHNL 100
    SLNECFIKLP KGLGRPGKGH YWTIDPASEF MFEEGSFRRR PRGFRRKCQA 150
    LKPMYSMMNG LGFNHLPDTY GFQGSAGGLS CPPNSLALEG GLGMMNGHLP 200
    GNVDGMALPS HSVPHLPSNG GHSYMGGCGG AAAGEYPHHD SSVPASPLLP 250
    TGAGGVMEPH AVYSGSAAAW PPSASAALNS GASYIKQQPL SPCNPAANPL 300
    SGSLSTHSLE QPYLHQNSHN APAELQGIPR YHSQSPSMCD RKEFVFSFNA 350
    MASSSMHSAG GGSYYHQQVT YQDIKPCVM 379
    Length:379
    Mass (Da):40,122
    Last modified:May 26, 2009 - v2
    Checksum:iCA3DE3CEFB94FC3E
    GO

    Sequence cautioni

    The sequence BAG36851.1 differs from that shown. Reason: Frameshift at several positions.
    The sequence AAC50399.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAC61576.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH89442.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491P → Q in ACDMPV. 1 Publication
    VAR_071016
    Natural varianti49 – 491P → S in ACDMPV. 1 Publication
    VAR_071017
    Natural varianti52 – 521S → F in ACDMPV. 1 Publication
    VAR_071018
    Natural varianti53 – 531Y → C in ACDMPV. 1 Publication
    VAR_071019
    Natural varianti74 – 741I → N in ACDMPV. 1 Publication
    VAR_071020
    Natural varianti85 – 851F → I in ACDMPV. 1 Publication
    VAR_071021
    Natural varianti85 – 851F → L in ACDMPV. 1 Publication
    VAR_071022
    Natural varianti85 – 851F → S in ACDMPV. 1 Publication
    VAR_071023
    Natural varianti86 – 861R → W in ACDMPV. 1 Publication
    VAR_071024
    Natural varianti91 – 911G → E in ACDMPV. 1 Publication
    VAR_071025
    Natural varianti91 – 911G → V in ACDMPV. 1 Publication
    VAR_071026
    Natural varianti96 – 961V → M in ACDMPV. 1 Publication
    VAR_071027
    Natural varianti97 – 971R → H in ACDMPV. 1 Publication
    VAR_071028
    Natural varianti98 – 981H → Q in ACDMPV. 1 Publication
    VAR_071029
    Natural varianti101 – 1011S → L in ACDMPV. 1 Publication
    VAR_071030
    Natural varianti106 – 1061F → L in ACDMPV. 1 Publication
    VAR_071031
    Natural varianti113 – 1197Missing in ACDMPV.
    VAR_071032
    Natural varianti119 – 1191G → D in ACDMPV. 1 Publication
    VAR_071033
    Natural varianti126 – 1261P → L in ACDMPV. 1 Publication
    VAR_071034
    Natural varianti139 – 1391R → L in ACDMPV. 1 Publication
    VAR_071035
    Natural varianti330 – 3301R → W in ACDMPV; unknown pathological significance. 1 Publication
    VAR_071036

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U13219 mRNA. Translation: AAC50399.1. Different initiation.
    AF085343, AF085342 Genomic DNA. Translation: AAC61576.1. Different initiation.
    AK314167 mRNA. Translation: BAG36851.1. Frameshift.
    AC009108 Genomic DNA. No translation available.
    BC089442 mRNA. Translation: AAH89442.1. Different initiation.
    CCDSiCCDS10957.2.
    PIRiS51624.
    RefSeqiNP_001442.2. NM_001451.2.
    UniGeneiHs.155591.

    Genome annotation databases

    EnsembliENST00000262426; ENSP00000262426; ENSG00000103241.
    GeneIDi2294.
    KEGGihsa:2294.
    UCSCiuc002fjl.3. human.

    Polymorphism databases

    DMDMi238054293.

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U13219 mRNA. Translation: AAC50399.1 . Different initiation.
    AF085343 , AF085342 Genomic DNA. Translation: AAC61576.1 . Different initiation.
    AK314167 mRNA. Translation: BAG36851.1 . Frameshift.
    AC009108 Genomic DNA. No translation available.
    BC089442 mRNA. Translation: AAH89442.1 . Different initiation.
    CCDSi CCDS10957.2.
    PIRi S51624.
    RefSeqi NP_001442.2. NM_001451.2.
    UniGenei Hs.155591.

    3D structure databases

    ProteinModelPortali Q12946.
    SMRi Q12946. Positions 48-137.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000262426.

    PTM databases

    PhosphoSitei Q12946.

    Polymorphism databases

    DMDMi 238054293.

    Proteomic databases

    MaxQBi Q12946.
    PaxDbi Q12946.
    PRIDEi Q12946.

    Protocols and materials databases

    DNASUi 2294.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262426 ; ENSP00000262426 ; ENSG00000103241 .
    GeneIDi 2294.
    KEGGi hsa:2294.
    UCSCi uc002fjl.3. human.

    Organism-specific databases

    CTDi 2294.
    GeneCardsi GC16P086544.
    HGNCi HGNC:3809. FOXF1.
    HPAi HPA028886.
    MIMi 265380. phenotype.
    601089. gene.
    neXtProti NX_Q12946.
    Orphaneti 210122. Congenital alveolar capillary dysplasia.
    PharmGKBi PA28226.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOGENOMi HOG000060124.
    HOVERGENi HBG051644.
    InParanoidi Q12946.
    KOi K09399.
    OMAi MTAEVQQ.
    OrthoDBi EOG7D59PX.
    PhylomeDBi Q12946.
    TreeFami TF351598.

    Enzyme and pathway databases

    SignaLinki Q12946.

    Miscellaneous databases

    GeneWikii FOXF1.
    GenomeRNAii 2294.
    NextBioi 9311.
    PROi Q12946.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q12946.
    CleanExi HS_FOXF1.
    Genevestigatori Q12946.

    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. "Differential activation of lung-specific genes by two forkhead proteins, FREAC-1 and FREAC-2."
      Hellqvist M., Mahlapuu M., Samuelsson L., Enerbaeck S., Carlsson P.
      J. Biol. Chem. 271:4482-4490(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROBABLE FUNCTION.
      Tissue: Lung.
    2. "FREAC-1 contains a cell-type-specific transcriptional activation domain and is expressed in epithelial-mesenchymal interfaces."
      Mahlapuu M., Pelto-Huikko M., Aitola M., Enerbaeck S., Carlsson P.
      Dev. Biol. 202:183-195(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    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].
      Tissue: Colon.
    4. "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].
    5. "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].
      Tissue: Chondrosarcoma.
    6. "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: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
      Tissue: Fetus.
    7. Cited for: INVOLVEMENT IN ACDMPV.
    8. "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain."
      Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E.
      , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P.
      Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.

    Entry informationi

    Entry nameiFOXF1_HUMAN
    AccessioniPrimary (citable) accession number: Q12946
    Secondary accession number(s): B2RAF4, Q5FWE5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: May 26, 2009
    Last modified: October 1, 2014
    This is version 122 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

    Caution

    It is uncertain whether Met-1 or Met-26 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: 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