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O15353 · FOXN1_HUMAN

  • Protein
    Forkhead box protein N1
  • Gene
    FOXN1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus. Acts as a master regulator of the TECs lineage development and is required from the onset of differentiation in progenitor TECs in the developing fetus to the final differentiation steps through which TECs mature to acquire their full functionality. Regulates, either directly or indirectly the expression of a variety of genes that mediate diverse aspects of thymus development and function, including MHC Class II, DLL4, CCL25, CTSL, CD40 and PAX1. Regulates the differentiation of the immature TECs into functional cortical TECs (cTECs) and medullary TECs (mTECs). Essential for maintenance of mTECs population in the postnatal thymus. Involved in the morphogenesis and maintenance of the three-dimensional thymic microstructure which is necessary for a fully functional thymus. Plays an important role in the maintenance of hematopoiesis and particularly T lineage progenitors within the bone marrow niche with age. Essential for the vascularization of the thymus anlage. Promotes the terminal differentiation of epithelial cells in the epidermis and hair follicles, partly by negatively regulating the activity of protein kinase C (By similarity).
Plays a crucial role in the early prenatal stages of T-cell ontogeny (PubMed:21507891).

Features

Showing features for dna binding.

164850100150200250300350400450500550600
TypeIDPosition(s)Description
DNA binding271-367Fork-head

GO annotations

AspectTerm
Cellular Componentchromatin
Cellular Componentnucleus
Molecular FunctionDNA-binding transcription activator activity, RNA polymerase II-specific
Molecular FunctionDNA-binding transcription factor activity, RNA polymerase II-specific
Molecular Functiontranscription cis-regulatory region binding
Biological Processanimal organ morphogenesis
Biological Processblood vessel morphogenesis
Biological Processdefense response
Biological Processepidermis development
Biological Processhair follicle development
Biological Processkeratinocyte differentiation
Biological Processlymphoid lineage cell migration into thymus
Biological Processnail development
Biological Processpositive regulation of epithelial cell differentiation
Biological Processpositive regulation of hair follicle development
Biological Processregulation of positive thymic T cell selection
Biological Processregulation of transcription by RNA polymerase II
Biological ProcessT cell homeostasis
Biological ProcessT cell lineage commitment
Biological Processthymus epithelium morphogenesis

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Forkhead box protein N1
  • Alternative names
    • Winged-helix transcription factor nude

Gene names

    • Name
      FOXN1
    • Synonyms
      RONU, WHN

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    O15353
  • Secondary accessions
    • B2R9Q7
    • O15352

Proteomes

Organism-specific databases

Subcellular Location

Keywords

Disease & Variants

Involvement in disease

T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails.
  • See also
    MIM:601705
Natural variants in TIDAND
Variant IDPosition(s)ChangeDescription
VAR_083859255-648missingin TIDAND and TLIND
VAR_083860320R>Win TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs1288977950

T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, and increased susceptibility to recurrent infections, mainly respiratory viral infections. Additional features may include impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy.
  • See also
    MIM:618806
Natural variants in TLIND
Variant IDPosition(s)ChangeDescription
VAR_083857169E>Kin TLIND; uncertain significance
VAR_083859255-648missingin TIDAND and TLIND
VAR_083860320R>Win TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs1288977950
VAR_083861321H>Nin TLIND; uncertain significance
VAR_083862325L>Pin TLIND; uncertain significance
VAR_083865474-648missingin TLIND

T-cell immunodeficiency with thymic aplasia (TIDTA)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections.
  • See also
    MIM:242700
Natural variants in TIDTA
Variant IDPosition(s)ChangeDescription
VAR_083863363-368WKRKDP>Cin TIDTA; decreased transcriptional activity as shown by a transcriptional reporter assay

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_02002569in dbSNP:rs2071587
Natural variantVAR_083857169in TLIND; uncertain significance
Natural variantVAR_083858242does not affect transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs140921495
Natural variantVAR_083859255-648in TIDAND and TLIND
Natural variantVAR_010376283
Natural variantVAR_083860320in TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs1288977950
Natural variantVAR_083861321in TLIND; uncertain significance
Natural variantVAR_083862325in TLIND; uncertain significance
Natural variantVAR_083863363-368in TIDTA; decreased transcriptional activity as shown by a transcriptional reporter assay
Natural variantVAR_021843411in dbSNP:rs2286520
Natural variantVAR_083864430does not affect transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs61749867
Natural variantVAR_083865474-648in TLIND
Natural variantVAR_020026599in dbSNP:rs532648

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 899 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain.

TypeIDPosition(s)Description
ChainPRO_00000918661-648Forkhead box protein N1

Proteomic databases

PTM databases

Expression

Tissue specificity

Expressed in thymus.

Gene expression databases

Organism-specific databases

Family & Domains

Features

Showing features for region, compositional bias.

Type
IDPosition(s)Description
Region1-105Disordered
Compositional bias42-56Polar residues
Region392-445Disordered
Compositional bias405-435Pro residues
Region458-508Disordered
Region623-648Disordered

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Length
    648
  • Mass (Da)
    68,925
  • Last updated
    1998-01-01 v1
  • MD5 Checksum
    952A512A1DEEEFE16BFA570AB8DED578
MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHDTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA

Computationally mapped potential isoform sequences

There is 1 potential isoform mapped to this entry

View all
EntryEntry nameGene nameLength
J3KRT9J3KRT9_HUMANFOXN1117

Features

Showing features for compositional bias.

TypeIDPosition(s)Description
Compositional bias42-56Polar residues
Compositional bias405-435Pro residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
Y11741
EMBL· GenBank· DDBJ
CAA72417.1
EMBL· GenBank· DDBJ
Genomic DNA
Y11742
EMBL· GenBank· DDBJ
CAA72417.1
EMBL· GenBank· DDBJ
Genomic DNA
Y11743
EMBL· GenBank· DDBJ
CAA72417.1
EMBL· GenBank· DDBJ
Genomic DNA
Y11744
EMBL· GenBank· DDBJ
CAA72417.1
EMBL· GenBank· DDBJ
Genomic DNA
Y11745
EMBL· GenBank· DDBJ
CAA72417.1
EMBL· GenBank· DDBJ
Genomic DNA
Y11746
EMBL· GenBank· DDBJ
CAA72417.1
EMBL· GenBank· DDBJ
Genomic DNA
Y11739
EMBL· GenBank· DDBJ
CAA72416.1
EMBL· GenBank· DDBJ
mRNA
AK313878
EMBL· GenBank· DDBJ
BAG36604.1
EMBL· GenBank· DDBJ
mRNA
CH471159
EMBL· GenBank· DDBJ
EAW51092.1
EMBL· GenBank· DDBJ
Genomic DNA

Genome annotation databases

Similar Proteins

Disclaimer

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