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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 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 | |
Alphafold | O15353 (Hs), Q61575 (Mm) |
Ensembl Gene | ENSG00000109101 (Hs), ENSMUSG00000002057 (Mm), ENSRNOG00000010870 (Rn) |
Entrez Gene | 8456 (Hs), 15218 (Mm), 287469 (Rn) |
Human Protein Atlas | ENSG00000109101 (Hs) |
KEGG Gene | hsa:8456 (Hs), mmu:15218 (Mm), rno:287469 (Rn) |
OMIM | 600838 (Hs) |
Pharos | O15353 (Hs) |
RefSeq Nucleotide | NM_003593 (Hs), NM_008238 (Mm), NM_001100648 (Rn) |
RefSeq Protein | NP_003584 (Hs), NP_032264 (Mm), NP_001094118 (Rn) |
UniProtKB | O15353 (Hs), Q61575 (Mm) |
Wikipedia | FOXN1 (Hs) |
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 | ||
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Clinically-Relevant Mutations and Pathophysiology | ||||||||||||||||
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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. |
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. Nature, 398 (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, 37 (8): 751-758. [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]
Forkhead box TFs: forkhead box N1. Last modified on 10/10/2017. Accessed on 02/11/2024. IUPHAR/BPS Guide to PHARMACOLOGY, https://www.guidetoimmunopharmacology.org/GRAC/ObjectDisplayForward?objectId=2958.