FOXN1

Protein identityUniProt · HPA

UniProt accession

O15353

Gene

FOXN1

Ensembl

ENSG00000109101

Chromosome

17

Canonical length

648 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

648 residues, UniProt reviewed canonical sequence.

>O15353|FOXN1
     1  MVSLPPPQSD VTLPGPTRLE GERQGDLMQA PGLPGSPAPQ SKHAGFSCSS FVSDGPPERT
    61  PSLPPHSPRI ASPGPEQVQG HCPAGPGPGP FRLSPSDKYP GFGFEEAAAS SPGRFLKGSH
   121  APFHPYKRPF HEDVFPEAET TLALKGHSFK TPGPLEAFEE IPVDVAEAEA FLPGFSAEAW
   181  CNGLPYPSQE HGPQVLGSEV KVKPPVLESG AGMFCYQPPL QHMYCSSQPP FHQYSPGGGS
   241  YPIPYLGSSH YQYQRMAPQA STDGHQPLFP KPIYSYSILI FMALKNSKTG SLPVSEIYNF
   301  MTEHFPYFKT APDGWKNSVR HNLSLNKCFE KVENKSGSSS RKGCLWALNP AKIDKMQEEL
   361  QKWKRKDPIA VRKSMAKPEE LDSLIGDKRE KLGSPLLGCP PPGLSGSGPI RPLAPPAGLS
   421  PPLHSLHPAP GPIPGKNPLQ DLLMGHTPSC YGQTYLHLSP GLAPPGPPQP LFPQPDGHLE
   481  LRAQPGTPQD SPLPAHTPPS HSAKLLAEPS PARTMHDTLL PDGDLGTDLD AINPSLTDFD
   541  FQGNLWEQLK DDSLALDPLV LVTSSPTSSS MPPPQPPPHC FPPGPCLTET GSGAGDLAAP
   601  GSGGSGALGD LHLTTLYSAF MELEPTPPTA PAGPSVYLSP SSKPVALA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FOXN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

39 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FOXN1.

Disease | AllUniProt

Conditions FOXN1 is implicated in, by any mechanism.

• T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) MIM:601705
• T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND) MIM:618806
• T-cell immunodeficiency with thymic aplasia (TIDTA) MIM:242700

Disease | GeneticClinVar

81 pathogenic / likely-pathogenic of 889 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• T-cell immunodeficiency, congenital alopecia, and nail dystrophy
• T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
• Severe combined immunodeficiency disease
• T-lymphocyte deficiency
• T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.35

gnomAD pLI

0.94

gnomAD missense Z

0.66

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• animal organ morphogenesis
• blood vessel morphogenesis
• defense response
• epidermis development
• hair follicle development
• keratinocyte differentiation
• lymphoid lineage cell migration into thymus
• nail development
• positive regulation of epithelial cell differentiation
• positive regulation of hair follicle development
• regulation of positive thymic T cell selection
• regulation of transcription by RNA polymerase II
• T cell homeostasis
• T cell lineage commitment
• thymus epithelium morphogenesis

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• transcription cis-regulatory region binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Fork head domain
• Fork head domain conserved site 2
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• Forkhead domain
• Forkhead box protein N1, forkhead domain
• Forkhead box protein N1/4

KeywordsUniProt

• Developmental protein
• Differentiation
• DNA-binding
• Hypotrichosis
• Nucleus
• Transcription
• Transcription regulation