Entity Details

Primary name FOXN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15353
EntryNameFOXN1_HUMAN
FullNameForkhead box protein N1
TaxID9606
Evidenceevidence at protein level
Length648
SequenceStatuscomplete
DateCreated2001-02-21
DateModified2021-06-02

Ontological Relatives

GenesFOXN1

GO terms

Show/Hide Table
GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001942 hair follicle development
GO:0002360 T cell lineage commitment
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006952 defense response
GO:0008544 epidermis development
GO:0009887 animal organ morphogenesis
GO:0030216 keratinocyte differentiation
GO:0030858 positive regulation of epithelial cell differentiation
GO:0035878 nail development
GO:0043029 T cell homeostasis
GO:0048514 blood vessel morphogenesis
GO:0051798 positive regulation of hair follicle development
GO:0097535 lymphoid lineage cell migration into thymus
GO:0097536 thymus epithelium morphogenesis
GO:1902232 regulation of positive thymic T cell selection

Subcellular Location

Show/Hide Table
Subcellular Location
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR001766 Fork head domainDomainDomain
IPR030456 Fork head domain conserved site 2SiteConserved site
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
242700 OMIMT-cell immunodeficiency with thymic aplasia (TIDTA)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. The disease is caused by variants affecting the gene represented in this entry.
618806 OMIMT-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND)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. The disease is caused by variants affecting the gene represented in this entry.
601705 OMIMT-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND)A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails. The disease is caused by variants affecting the gene represented in this entry.