FOXN1

Protein-coding gene in the species Homo sapiens
FOXN1
Identifiers
AliasesFOXN1, FKHL20, RONU, WHN, forkhead box N1, TIDAND, TLIND
External IDsOMIM: 600838; MGI: 102949; HomoloGene: 2664; GeneCards: FOXN1; OMA:FOXN1 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for FOXN1
Genomic location for FOXN1
Band17q11.2Start28,506,243 bp[1]
End28,538,900 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for FOXN1
Genomic location for FOXN1
Band11 B5|11 46.74 cMStart78,248,403 bp[2]
End78,277,384 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gingival epithelium

  • skin of thigh

  • skin of abdomen

  • human penis

  • skin of hip

  • vulva

  • nipple

  • oral cavity

  • mucosa of pharynx

  • vagina
Top expressed in
  • hair

  • outer root sheath of hair follicle

  • cortex of hair

  • lip

  • filiform papilla

  • thymus

  • skin of back

  • skin of abdomen

  • morula

  • embryo
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • sequence-specific DNA binding
  • DNA binding
  • DNA-binding transcription factor activity
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • nucleus
Biological process
  • hair follicle development
  • defense response
  • nail development
  • regulation of transcription, DNA-templated
  • blood vessel morphogenesis
  • thymus epithelium morphogenesis
  • thymus development
  • regulation of transcription by RNA polymerase II
  • lymphocyte homeostasis
  • positive regulation of hair follicle development
  • epithelial cell proliferation
  • transcription by RNA polymerase II
  • transcription, DNA-templated
  • regulation of positive thymic T cell selection
  • keratinocyte differentiation
  • lymphoid lineage cell migration into thymus
  • T cell homeostasis
  • multicellular organism development
  • regulation of T cell differentiation in thymus
  • epidermis development
  • animal organ morphogenesis
  • regulation of gene expression
  • cell population proliferation
  • T cell lineage commitment
  • positive regulation of epithelial cell differentiation
  • cell differentiation
  • positive regulation of transcription by RNA polymerase II
  • hemopoiesis
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8456

15218

Ensembl

ENSG00000109101

ENSMUSG00000002057

UniProt

O15353

Q61575

RefSeq (mRNA)

NM_003593
NM_001369369

NM_001277290
NM_008238

RefSeq (protein)

NP_003584
NP_001356298

NP_001264219
NP_032264

Location (UCSC)Chr 17: 28.51 – 28.54 MbChr 11: 78.25 – 78.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Forkhead box protein N1 is a protein that in humans is encoded by the FOXN1 gene.[5][6]

Function

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.[6] In the chick embryo, the FOXN1 gene is expressed in the developing thymus, claws and feathers. The expression of FOXN1 in feathers and claws indicates that it may regulate the feather outgrowth. In feather and claws, FOXN1 can potentially regulate expression of keratins similar to mammalian orthologs. [7] In thymic epithelial cells, FOXN1 has been shown to bind to and regulate genes involved in T-cell maturation and antigen presentation.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000109101 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002057 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Schorpp M, Hofmann M, Dear TN, Boehm T (Dec 1997). "Characterization of mouse and human nude genes". Immunogenetics. 46 (6): 509–15. doi:10.1007/s002510050312. PMID 9321431. S2CID 32175138.
  6. ^ a b "Entrez Gene: FOXN1 forkhead box N1".
  7. ^ Darnell DK, Zhang LS, Hannenhalli S, Yaklichkin SY (Dec 2014). "Developmental expression of chicken FOXN1 and putative target genes during feather development". The International Journal of Developmental Biology. 58 (1): 57–64. doi:10.1387/ijdb.130023sy. PMID 24860996.
  8. ^ Žuklys S, Handel A, Zhanybekova S, Govani F, Keller M, Maio S, Mayer CE, Teh HY, Hafen K, Gallone G, Barthlott T, Ponting CP, Holländer GA (Aug 2016). "Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells". Nature Immunology. 17 (10): 1206–15. doi:10.1038/ni.3537. PMC 5033077. PMID 27548434.

Further reading

  • Zhang Z, Burnley P, Coder B, Su DM (2012). "Insights on FoxN1 biological significance and usages of the "nude" mouse in studies of T-lymphopoiesis". International Journal of Biological Sciences. 8 (8): 1156–67. doi:10.7150/ijbs.5033. PMC 3477685. PMID 23091413.
  • Mecklenburg L, Tychsen B, Paus R (Nov 2005). "Learning from nudity: lessons from the nude phenotype". Experimental Dermatology. 14 (11): 797–810. doi:10.1111/j.1600-0625.2005.00362.x. PMID 16232301. S2CID 27700105.
  • Nehls M, Pfeifer D, Schorpp M, Hedrich H, Boehm T (Nov 1994). "New member of the winged-helix protein family disrupted in mouse and rat nude mutations". Nature. 372 (6501): 103–7. Bibcode:1994Natur.372..103N. doi:10.1038/372103a0. PMID 7969402. S2CID 2656526.
  • Frank J, Pignata C, Panteleyev AA, Prowse DM, Baden H, Weiner L, Gaetaniello L, Ahmad W, Pozzi N, Cserhalmi-Friedman PB, Aita VM, Uyttendaele H, Gordon D, Ott J, Brissette JL, Christiano AM (Apr 1999). "Exposing the human nude phenotype". Nature. 398 (6727): 473–4. Bibcode:1999Natur.398..473F. doi:10.1038/18997. hdl:2299/16173. PMID 10206641. S2CID 107413.
  • Gattenlöhner S, Müller-Hermelink HK, Marx A (1999). "Transcription of the nude gene (WHN) in human normal organs and mediastinal and pulmonary tumors". Pathology, Research and Practice. 195 (8): 571–4. doi:10.1016/s0344-0338(99)80007-7. PMID 10483588.
  • Schlake T, Schorpp M, Maul-Pavicic A, Malashenko AM, Boehm T (Apr 2000). "Forkhead/winged-helix transcription factor Whn regulates hair keratin gene expression: molecular analysis of the nude skin phenotype". Developmental Dynamics. 217 (4): 368–76. doi:10.1002/(SICI)1097-0177(200004)217:4<368::AID-DVDY4>3.0.CO;2-Z. PMID 10767081.
  • Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C (May 2004). "Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population". Annals of Human Genetics. 68 (Pt 3): 265–8. doi:10.1046/j.1529-8817.2004.00091.x. PMID 15180707. S2CID 20067101.
  • Janes SM, Ofstad TA, Campbell DH, Watt FM, Prowse DM (Aug 2004). "Transient activation of FOXN1 in keratinocytes induces a transcriptional programme that promotes terminal differentiation: contrasting roles of FOXN1 and Akt" (PDF). Journal of Cell Science. 117 (Pt 18): 4157–68. doi:10.1242/jcs.01302. PMID 15316080. S2CID 9153395.
  • Nonaka D, Henley JD, Chiriboga L, Yee H (Jul 2007). "Diagnostic utility of thymic epithelial markers CD205 (DEC205) and Foxn1 in thymic epithelial neoplasms". The American Journal of Surgical Pathology. 31 (7): 1038–44. doi:10.1097/PAS.0b013e31802b4917. PMID 17592270. S2CID 30502411.
  • Weiner L, Han R, Scicchitano BM, Li J, Hasegawa K, Grossi M, Lee D, Brissette JL (Sep 2007). "Dedicated epithelial recipient cells determine pigmentation patterns". Cell. 130 (5): 932–42. doi:10.1016/j.cell.2007.07.024. PMID 17803914. S2CID 14622851.
  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
Stub icon

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e