forkhead box N1

Target id: 2958

Nomenclature: forkhead box N1

Family: Forkhead box TFs

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: OFF :     forkhead box N1 has curated GtoImmuPdb data

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 648 17q11.2 FOXN1 forkhead box N1
Mouse - 648 11 B5; 11 46.74 cM Foxn1 forkhead box N1
Rat - 473 10q25 Foxn1 forkhead box N1
Gene and Protein Information Comments
A second transcript variant encoding a shorter protein isoform (isoform 2; 647 amino acids; NP_001264219) has been detected in mouse.
Previous and Unofficial Names
FKHL20 | RONU | WHN | winged-helix nude
Database Links
Ensembl Gene
Entrez Gene
GenitoUrinary Development Molecular Anatomy Project
Human Protein Atlas
KEGG Gene
OMIM
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Immunopharmacology Comments
FOXN1 deficiency has been identified as the cause of the nude severe combined immunodeficiency (SCID) phenotype in mice and humans [2-3].
Immuno Process Associations
Immuno Process:  T cell (activation)
Immuno Process ID:  4
Comment: 
GO Annotation:  Associated to GO processes, IEA only
GO Processes:  T cell lineage commitment (GO:0002360) IEA
regulation of positive thymic T cell selection (GO:1902232) IEA
References: 
Immuno Process:  Immune regulation
Immuno Process ID:  6
Comment: 
GO Annotation:  Associated to GO processes, IEA only
GO Processes:  T cell homeostasis (GO:0043029) IEA
regulation of positive thymic T cell selection (GO:1902232) IEA
References: 
Immuno Process:  Immune system development
Immuno Process ID:  8
Comment: 
GO Annotation:  Associated to GO processes, IEA only
GO Processes:  T cell lineage commitment (GO:0002360) IEA
thymus epithelium morphogenesis (GO:0097536) IEA
regulation of positive thymic T cell selection (GO:1902232) IEA
References: 
Immuno Process:  Chemotaxis & migration
Immuno Process ID:  10
Comment: 
GO Annotation:  Associated to GO processes, IEA only
GO Processes:  regulation of positive thymic T cell selection (GO:1902232) IEA
References: 
Immuno Process:  Cellular signalling
Immuno Process ID:  11
Comment: 
GO Annotation:  Associated to GO processes, IEA only
GO Processes:  T cell lineage commitment (GO:0002360) IEA
regulation of positive thymic T cell selection (GO:1902232) IEA
References: 
Clinically-Relevant Mutations and Pathophysiology
Disease:  severe combined immunodeficiency, autosomal recessive, due to FOXN1 deficiency.
Description: In FOXN1 deficiency in humans is the counterpart of the nude SCID mouse phenotype. The clinical hallmarks are athymia with severe T cell immunodeficiency, congenital alopecia, and nail dystrophy.
Synonyms: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
OMIM: 601705
Comments: 
References:  1
Biologically Significant Variants
Type:  Single nucleotide polymorphism
Species:  Human
Description:  Homozygous 792C-T nucleotide transition in the N-terminus exon 5 of FOXN1, creates a premature stop codon and produces a non-functional protein.
Amino acid change:  R255X
Nucleotide change:  C792T
Type:  Single nucleotide polymorphism
Species:  Human
Description:  S188fs represents a frameshift mutation in the FOXN1 gene that results in a truncated and non-functional protein.
Amino acid change:  S188fs
Type:  Single nucleotide polymorphism
Species:  Human
Description:  A missense mutation in the FOXN1 gene that produces a protein that cannot bind DNA, and thus exhibits impaired transcriptional regulation of target genes.
Amino acid change:  R320W
Nucleotide change:  C987T
General Comments
FOX N1 is a winged-helix, or forkhead motif-containing transcription factor (TF). The forkhead motif facilitates DNA binding. Forkhead TFs are important regulators of the expression of genes involved in cell growth, proliferation, differentiation, and longevity, and are important during embryonic development.

References

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1. Frank J, Pignata C, Panteleyev AA, Prowse DM, Baden H, Weiner L, Gaetaniello L, Ahmad W, Pozzi N, Cserhalmi-Friedman PB et al.. (1999) Exposing the human nude phenotype. Nature398 (6727): 473-4. [PMID:10206641]

2. Gallo V, Cirillo E, Giardino G, Pignata C. (2017) FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches. J. Clin. Immunol.,  [Epub ahead of print]. [PMID:28932937]

3. Pignata C, Fiore M, Guzzetta V, Castaldo A, Sebastio G, Porta F, Guarino A. (1996) Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am. J. Med. Genet.65 (2): 167-70. [PMID:8911612]

How to cite this page

Forkhead box TFs: forkhead box N1. Last modified on 10/10/2017. Accessed on 13/12/2017. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2958.