• Gene id: 8456

Gene Summary

• Gene Symbol: FOXN1   Gene   UCSC   Ensembl
• Aliases: FKHL20, RONU, TIDAND, TLIND, WHN
• Gene name: forkhead box N1
• Alternate names: forkhead box protein N1, Rowett nude, winged-helix nude, winged-helix transcription factor nude,
• Gene location: 17q11.2 (78776349: 78916364)     Exons: 18     NC_000004.12
• Gene summary(Entrez): 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 gene
• OMIM: 600838

Protein Summary

• Protein general information: O15353  
  • Name: Forkhead box protein N1 (Winged helix transcription factor nude)
  • Length: 648  
  • Mass: 68925
  • Tissue specificity: Expressed in thymus.
• Sequence:

  MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGP
  EQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFK
  TPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLGSEVKVKPPVLESGAGMFCYQPPLQHMYC
  SSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNF
  MTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSM
  AKPEELDSLIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSC
  YGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHDTLLPDGDL
  GTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAP
  GSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA

• Structural information:
  • Interpro: IPR001766  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00658 PS50039
  • CDD: cd00059
  • PDB: 5OCN 6EL8
  • PDBsum: 5OCN 6EL8
  • STRING: ENSP00000226247
• Other Databases: GeneCards:  FOXN1  Malacards:  FOXN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0006952	defense response	TAS	biological process
GO:0008544	epidermis development	TAS	biological process
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097535	lymphoid lineage cell migration into thymus	IEA	biological process
GO:0051798	positive regulation of hair follicle development	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048514	blood vessel morphogenesis	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043029	T cell homeostasis	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0002260	lymphocyte homeostasis	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0048538	thymus development	IEA	biological process
GO:1902232	regulation of positive thymic T cell selection	IEA	biological process
GO:0097536	thymus epithelium morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0035878	nail development	IEA	biological process
GO:0033081	regulation of T cell differentiation in thymus	IEA	biological process
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0002360	T cell lineage commitment	IEA	biological process
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0030858	positive regulation of epithelial cell differentiation	IDA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
T-B+Severe combined immunodeficiency	KEGG:H00091
T-cell immunodeficiency congenital alopecia and nail dystrophy	KEGG:H01181
T-B+Severe combined immunodeficiency	KEGG:H00091
T-cell immunodeficiency congenital alopecia and nail dystrophy	KEGG:H01181
Primary immunodeficiency disease	PMID:10206641
Alopecia	PMID:10206641
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq