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Protein

Forkhead box protein N1

Gene

FOXN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus. Acts as a master regulator of the TECs lineage development and is required from the onset of differentiation in progenitor TECs in the developing fetus to the final differentiation steps through which TECs mature to acquire their full functionality. Regulates, either directly or indirectly the expression of a variety of genes that mediate diverse aspects of thymus development and function, including MHC Class II, DLL4, CCL25, CTSL, CD40 and PAX1. Regulates the differentiation of the immature TECs into functional cortical TECs (cTECs) and medullary TECs (mTECs). Essential for maintenance of mTECs population in the postnatal thymus. Involved in the morphogenesis and maintenance of the three-dimensional thymic microstructure which is necessary for a fully functional thymus. Plays an important role in the maintenance of hematopoiesis and particularly T lineage progenitors within the bone marrow niche with age. Essential for the vascularization of the thymus anlage. Promotes the terminal differentiation of epithelial cells in the epidermis and hair follicles, partly by negatively regulating the activity of protein kinase C (By similarity). Plays a crucial role in the early prenatal stages of T-cell ontogeny (PubMed:21507891).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi271 – 367Fork-headPROSITE-ProRule annotationAdd BLAST97

GO - Molecular functioni

GO - Biological processi

  • animal organ morphogenesis Source: ProtInc
  • blood vessel morphogenesis Source: Ensembl
  • defense response Source: ProtInc
  • epidermis development Source: ProtInc
  • epithelial cell proliferation Source: Ensembl
  • hair follicle development Source: Ensembl
  • keratinocyte differentiation Source: Ensembl
  • lymphoid lineage cell migration into thymus Source: Ensembl
  • nail development Source: Ensembl
  • positive regulation of epithelial cell differentiation Source: BHF-UCL
  • positive regulation of hair follicle development Source: Ensembl
  • regulation of positive thymic T cell selection Source: Ensembl
  • regulation of transcription by RNA polymerase II Source: ProtInc
  • T cell homeostasis Source: Ensembl
  • T cell lineage commitment Source: Ensembl
  • thymus epithelium morphogenesis Source: Ensembl
  • transcription by RNA polymerase II Source: ProtInc

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORiO15353

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein N1
Alternative name(s):
Winged-helix transcription factor nude
Gene namesi
Name:FOXN1
Synonyms:RONU, WHN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000109101.7
HGNCiHGNC:12765 FOXN1
MIMi600838 gene
neXtProtiNX_O15353

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails.
See also OMIM:601705

Organism-specific databases

DisGeNETi8456
MalaCardsiFOXN1
MIMi601705 phenotype
OpenTargetsiENSG00000109101
Orphaneti169095 Alymphoid cystic thymic dysgenesis
PharmGKBiPA37368

Polymorphism and mutation databases

BioMutaiFOXN1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000918661 – 648Forkhead box protein N1Add BLAST648

Proteomic databases

MaxQBiO15353
PaxDbiO15353
PeptideAtlasiO15353
PRIDEiO15353
ProteomicsDBi48606

PTM databases

iPTMnetiO15353
PhosphoSitePlusiO15353

Expressioni

Tissue specificityi

Expressed in thymus.

Gene expression databases

BgeeiENSG00000109101
CleanExiHS_FOXN1
ExpressionAtlasiO15353 baseline and differential
GenevisibleiO15353 HS

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi114034, 24 interactors
IntActiO15353, 36 interactors
MINTiO15353
STRINGi9606.ENSP00000226247

Structurei

Secondary structure

1648
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi276 – 285Combined sources10
Beta strandi287 – 293Combined sources7
Helixi294 – 304Combined sources11
Helixi307 – 310Combined sources4
Helixi315 – 325Combined sources11
Beta strandi329 – 332Combined sources4
Beta strandi345 – 348Combined sources4
Helixi350 – 352Combined sources3
Helixi353 – 360Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5OCNX-ray2.70A/B/C/D/E/F/G/H270-366[»]
6EL8X-ray1.61A/D270-366[»]
ProteinModelPortaliO15353
SMRiO15353
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG2294 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00920000148974
HOGENOMiHOG000059593
HOVERGENiHBG051653
InParanoidiO15353
KOiK09407
OMAiGHSFKTP
OrthoDBiEOG091G02YE
PhylomeDBiO15353
TreeFamiTF329867

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR001766 Fork_head_dom
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00250 Forkhead, 1 hit
PRINTSiPR00053 FORKHEAD
SMARTiView protein in SMART
SM00339 FH, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

Sequencei

Sequence statusi: Complete.

O15353-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVSLPPPQSD VTLPGPTRLE GERQGDLMQA PGLPGSPAPQ SKHAGFSCSS
60 70 80 90 100
FVSDGPPERT PSLPPHSPRI ASPGPEQVQG HCPAGPGPGP FRLSPSDKYP
110 120 130 140 150
GFGFEEAAAS SPGRFLKGSH APFHPYKRPF HEDVFPEAET TLALKGHSFK
160 170 180 190 200
TPGPLEAFEE IPVDVAEAEA FLPGFSAEAW CNGLPYPSQE HGPQVLGSEV
210 220 230 240 250
KVKPPVLESG AGMFCYQPPL QHMYCSSQPP FHQYSPGGGS YPIPYLGSSH
260 270 280 290 300
YQYQRMAPQA STDGHQPLFP KPIYSYSILI FMALKNSKTG SLPVSEIYNF
310 320 330 340 350
MTEHFPYFKT APDGWKNSVR HNLSLNKCFE KVENKSGSSS RKGCLWALNP
360 370 380 390 400
AKIDKMQEEL QKWKRKDPIA VRKSMAKPEE LDSLIGDKRE KLGSPLLGCP
410 420 430 440 450
PPGLSGSGPI RPLAPPAGLS PPLHSLHPAP GPIPGKNPLQ DLLMGHTPSC
460 470 480 490 500
YGQTYLHLSP GLAPPGPPQP LFPQPDGHLE LRAQPGTPQD SPLPAHTPPS
510 520 530 540 550
HSAKLLAEPS PARTMHDTLL PDGDLGTDLD AINPSLTDFD FQGNLWEQLK
560 570 580 590 600
DDSLALDPLV LVTSSPTSSS MPPPQPPPHC FPPGPCLTET GSGAGDLAAP
610 620 630 640
GSGGSGALGD LHLTTLYSAF MELEPTPPTA PAGPSVYLSP SSKPVALA
Length:648
Mass (Da):68,925
Last modified:January 1, 1998 - v1
Checksum:iF32F4C95627E60DE
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02002569R → C. Corresponds to variant dbSNP:rs2071587EnsemblClinVar.1
Natural variantiVAR_010376283A → V1 Publication1
Natural variantiVAR_021843411R → W. Corresponds to variant dbSNP:rs2286520Ensembl.1
Natural variantiVAR_020026599A → P. Corresponds to variant dbSNP:rs532648EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y11741
, Y11742, Y11743, Y11744, Y11745, Y11746 Genomic DNA Translation: CAA72417.1
Y11739 mRNA Translation: CAA72416.1
AK313878 mRNA Translation: BAG36604.1
CH471159 Genomic DNA Translation: EAW51092.1
CCDSiCCDS11232.1
RefSeqiNP_003584.2, NM_003593.2
XP_005258103.1, XM_005258046.3
UniGeneiHs.58611
Hs.663679

Genome annotation databases

EnsembliENST00000226247; ENSP00000226247; ENSG00000109101
ENST00000579795; ENSP00000464645; ENSG00000109101
GeneIDi8456
KEGGihsa:8456
UCSCiuc002hbj.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFOXN1_HUMAN
AccessioniPrimary (citable) accession number: O15353
Secondary accession number(s): B2R9Q7, O15352
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 1, 1998
Last modified: June 20, 2018
This is version 160 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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