FOXN1:Forkhead box protein N1

Gene Name
Forkhead box protein N1
Protein ID
Chromosome ID
HPP Status
Protein Name
Forkhead box protein N1

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[Reference: ]
Chromosomal Position
17q11.2 | Start:28506243 End:28506243

Entrez Gene Summary for FOXN1
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)

UniProtKB Summary for FOXN1
Function: Transcriptional regulator involved in development

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External IDs
Hgnc ID: 12765 EntrezGene ID: 8456 Ensembl ID: ENSG00000109101
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Reference Source

Gene Reference Into Function (GeneRIF)

PubMed IDGeneRIF TextLast Update
15180707Mutation of the FOXN1 gene is associated with congenital severe combined immunodeficiency associated with alopecia2010-01-21
15316080These results establish a role for FOXN1 in initiation of terminal differentiation and implicate Akt in subsequent events.2010-01-21
16232301Mechanisms and signaling pathways by which Foxn1 modulates keratinocyte differentiation in hair follicle and nail apparatus. Molecular and functional consequences of loss of function of Foxn1 protein in skin. Review.2010-01-21
17592270Foxn1 is a sensitive and specific marker for thymoma and thymic carcinoma.2010-01-21
17803914Foxn1/FGF2 pathway involved in instructing melanocytes where to place pigment.2010-01-21
19729838study uncovered a positive regulatory loop between FGFR3 and FOXN1 that underlies a benign versus malignant skin tumor phenotype2010-02-15
20429426role of FOXN1 in immunological disorders characterized by abnormal T-cell development or abnormal T-cell regulatory homeostasis [Review]2010-06-28
20634891Observational study of gene-disease association. (HuGE Navigator)2010-09-15
21507891results show that FOXN1 is crucial for in utero T cell development, but not for B and NK cell differentiation2011-11-05
22721479This is the first description of leucoderma occurring in a patient with Foxn1 deficiency, as well as the first report of this pigment abnormality following thymus transplantation.2012-11-24
23922987The retinoid-related orphan receptor RORalpha promotes keratinocyte differentiation via FOXN1.2014-08-23
24383669These results show that miR-18b and miR-518b are upstream controllers of FOXN1-directed epithelial lineage development.2015-01-03
25173801Identification of a unique mutation in FOXN1 that led to severe combined immunodeficiency in a female infant is reported.2015-01-31
26352270Whole-exome sequencing in a South American cohort links ALDH1A3, FOXN1 and RARB/retinoic acid regulation pathways to autism spectrum disorders.2016-05-28


Relevant citations within the PubMed literature


Putative/known Functions


Homologues, Orthologues, Paralogues and Family

Sequence Similarity and Functional Annotation

Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
Reviewed non-human mammalian with experimental evidenceFOXN1_HUMANFOXN3_MOUSE6481005415.434602633621062055.00E-26115
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

InterProScan Annotation

Uniprot IDInterpro IDGo IDTypeNameCategoryDescription
FOXN1_HUMANIPR001766GO:0003700DomainTranscription factor, fork headMolecular Functionsequence-specific DNA binding transcription factor activity
FOXN1_HUMANIPR001766GO:0043565DomainTranscription factor, fork headMolecular Functionsequence-specific DNA binding
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications

Protein Protein Interactions

Best Available Mass Spectra without FDR


Evidence File
Christoph Schaab, Tamar Geiger, Gabriele Stoehr, Juergen Cox and Matthias Mann: "Analysis of high-accuracy, quantitative proteomics data in the MaxQB database", Mol Cell Proteomics 11 (2012) M111.014068. ">MaxQB


Peptide SequenceScoresPride IDSpectrum IDAnnotation
No results found.
Evidence File
Vizcaino JA, et al. 2016 update of the PRIDE database and related tools. Nucleic Acids Res. 2016 Jan 1;44(D1):D447-D456. ">PRIDE Archive

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Proteomics DB

Peptide SequenceSearch EngineScoreThreshold ScoreIdentification IDExperiment IDAnnotation
Evidence File
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7. ">Proteomics DB