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O15353

- FOXN1_HUMAN

UniProt

O15353 - FOXN1_HUMAN

Protein

Forkhead box protein N1

Gene

FOXN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Transcriptional regulator involved in development.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi271 – 36797Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. defense response Source: ProtInc
    2. epidermis development Source: ProtInc
    3. epithelial cell proliferation Source: Ensembl
    4. hair follicle development Source: Ensembl
    5. keratinocyte differentiation Source: Ensembl
    6. lymphocyte homeostasis Source: Ensembl
    7. nail development Source: Ensembl
    8. organ morphogenesis Source: ProtInc
    9. regulation of T cell differentiation in thymus Source: Ensembl
    10. regulation of transcription from RNA polymerase II promoter Source: ProtInc
    11. thymus development Source: Ensembl
    12. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein N1
    Alternative name(s):
    Winged-helix transcription factor nude
    Gene namesi
    Name:FOXN1
    Synonyms:RONU, WHN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:12765. FOXN1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: ProtInc

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) [MIM:601705]: A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi601705. phenotype.
    Orphaneti169095. Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy.
    PharmGKBiPA37368.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 648648Forkhead box protein N1PRO_0000091866Add
    BLAST

    Proteomic databases

    PaxDbiO15353.
    PRIDEiO15353.

    PTM databases

    PhosphoSiteiO15353.

    Expressioni

    Tissue specificityi

    Expressed in thymus.

    Gene expression databases

    ArrayExpressiO15353.
    BgeeiO15353.
    CleanExiHS_FOXN1.
    GenevestigatoriO15353.

    Organism-specific databases

    HPAiHPA041520.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000226247.

    Structurei

    3D structure databases

    ProteinModelPortaliO15353.
    SMRiO15353. Positions 275-350.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiCOG5025.
    HOGENOMiHOG000059593.
    HOVERGENiHBG051653.
    InParanoidiO15353.
    KOiK09407.
    OMAiGHSFKTP.
    PhylomeDBiO15353.
    TreeFamiTF329867.

    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.

    O15353-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVSLPPPQSD VTLPGPTRLE GERQGDLMQA PGLPGSPAPQ SKHAGFSCSS    50
    FVSDGPPERT PSLPPHSPRI ASPGPEQVQG HCPAGPGPGP FRLSPSDKYP 100
    GFGFEEAAAS SPGRFLKGSH APFHPYKRPF HEDVFPEAET TLALKGHSFK 150
    TPGPLEAFEE IPVDVAEAEA FLPGFSAEAW CNGLPYPSQE HGPQVLGSEV 200
    KVKPPVLESG AGMFCYQPPL QHMYCSSQPP FHQYSPGGGS YPIPYLGSSH 250
    YQYQRMAPQA STDGHQPLFP KPIYSYSILI FMALKNSKTG SLPVSEIYNF 300
    MTEHFPYFKT APDGWKNSVR HNLSLNKCFE KVENKSGSSS RKGCLWALNP 350
    AKIDKMQEEL QKWKRKDPIA VRKSMAKPEE LDSLIGDKRE KLGSPLLGCP 400
    PPGLSGSGPI RPLAPPAGLS PPLHSLHPAP GPIPGKNPLQ DLLMGHTPSC 450
    YGQTYLHLSP GLAPPGPPQP LFPQPDGHLE LRAQPGTPQD SPLPAHTPPS 500
    HSAKLLAEPS PARTMHDTLL PDGDLGTDLD AINPSLTDFD FQGNLWEQLK 550
    DDSLALDPLV LVTSSPTSSS MPPPQPPPHC FPPGPCLTET GSGAGDLAAP 600
    GSGGSGALGD LHLTTLYSAF MELEPTPPTA PAGPSVYLSP SSKPVALA 648
    Length:648
    Mass (Da):68,925
    Last modified:January 1, 1998 - v1
    Checksum:iF32F4C95627E60DE
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti69 – 691R → C.
    Corresponds to variant rs2071587 [ dbSNP | Ensembl ].
    VAR_020025
    Natural varianti283 – 2831A → V.1 Publication
    VAR_010376
    Natural varianti411 – 4111R → W.
    Corresponds to variant rs2286520 [ dbSNP | Ensembl ].
    VAR_021843
    Natural varianti599 – 5991A → P.
    Corresponds to variant rs532648 [ dbSNP | Ensembl ].
    VAR_020026

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y11741
    , Y11742, Y11743, Y11744, Y11745, Y11746 Genomic DNA. Translation: CAA72417.1.
    Y11739 mRNA. Translation: CAA72416.1.
    AK313878 mRNA. Translation: BAG36604.1.
    CH471159 Genomic DNA. Translation: EAW51092.1.
    CCDSiCCDS11232.1.
    RefSeqiNP_003584.2. NM_003593.2.
    XP_005258103.1. XM_005258046.2.
    UniGeneiHs.663679.

    Genome annotation databases

    EnsembliENST00000226247; ENSP00000226247; ENSG00000109101.
    ENST00000579795; ENSP00000464645; ENSG00000109101.
    GeneIDi8456.
    KEGGihsa:8456.
    UCSCiuc002hbj.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    FOXN1base

    FOXN1 mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y11741
    , Y11742 , Y11743 , Y11744 , Y11745 , Y11746 Genomic DNA. Translation: CAA72417.1 .
    Y11739 mRNA. Translation: CAA72416.1 .
    AK313878 mRNA. Translation: BAG36604.1 .
    CH471159 Genomic DNA. Translation: EAW51092.1 .
    CCDSi CCDS11232.1.
    RefSeqi NP_003584.2. NM_003593.2.
    XP_005258103.1. XM_005258046.2.
    UniGenei Hs.663679.

    3D structure databases

    ProteinModelPortali O15353.
    SMRi O15353. Positions 275-350.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000226247.

    PTM databases

    PhosphoSitei O15353.

    Proteomic databases

    PaxDbi O15353.
    PRIDEi O15353.

    Protocols and materials databases

    DNASUi 8456.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000226247 ; ENSP00000226247 ; ENSG00000109101 .
    ENST00000579795 ; ENSP00000464645 ; ENSG00000109101 .
    GeneIDi 8456.
    KEGGi hsa:8456.
    UCSCi uc002hbj.3. human.

    Organism-specific databases

    CTDi 8456.
    GeneCardsi GC17P026850.
    H-InvDB HIX0039248.
    HGNCi HGNC:12765. FOXN1.
    HPAi HPA041520.
    MIMi 600838. gene.
    601705. phenotype.
    neXtProti NX_O15353.
    Orphaneti 169095. Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy.
    PharmGKBi PA37368.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOGENOMi HOG000059593.
    HOVERGENi HBG051653.
    InParanoidi O15353.
    KOi K09407.
    OMAi GHSFKTP.
    PhylomeDBi O15353.
    TreeFami TF329867.

    Miscellaneous databases

    GeneWikii FOXN1.
    GenomeRNAii 8456.
    NextBioi 31648.
    PROi O15353.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15353.
    Bgeei O15353.
    CleanExi HS_FOXN1.
    Genevestigatori O15353.

    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 mouse and human nude genes."
      Schorpp M., Hofmann M., Dear T.N., Boehm T.
      Immunogenetics 46:509-515(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT VAL-283.
      Tissue: Thymus.
    2. "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: Thymus.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: INVOLVEMENT IN TIDAND.

    Entry informationi

    Entry nameiFOXN1_HUMAN
    AccessioniPrimary (citable) accession number: O15353
    Secondary accession number(s): B2R9Q7, O15352
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: January 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 17
      Human chromosome 17: 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