UniProtKB - O15353 (FOXN1_HUMAN)
Protein
Forkhead box protein N1
Gene
FOXN1
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 271 – 367 | Fork-headPROSITE-ProRule annotationAdd BLAST | 97 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- sequence-specific DNA binding Source: Ensembl
GO - Biological processi
- animal organ morphogenesis Source: ProtInc
- blood vessel morphogenesis Source: Ensembl
- defense response Source: ProtInc
- epidermis development Source: ProtInc
- 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
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O15353 |
SIGNORi | O15353 |
Names & Taxonomyi
Protein namesi | Recommended name: Forkhead box protein N1Alternative name(s): Winged-helix transcription factor nude |
Gene namesi | Name:FOXN1 Synonyms:RONU, WHN |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12765, FOXN1 |
MIMi | 600838, gene |
neXtProti | NX_O15353 |
VEuPathDBi | HostDB:ENSG00000109101.7 |
Subcellular locationi
Nucleus
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: ProtInc
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND)6 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083859 | 255 – 648 | Missing in TIDAND and TLIND. 5 PublicationsAdd BLAST | 394 | |
Natural variantiVAR_083860 | 320 | R → W in TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay. 3 PublicationsCorresponds to variant dbSNP:rs1288977950EnsemblClinVar. | 1 |
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, and increased susceptibility to recurrent infections, mainly respiratory viral infections. Additional features may include impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083857 | 169 | E → K in TLIND; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083859 | 255 – 648 | Missing in TIDAND and TLIND. 5 PublicationsAdd BLAST | 394 | |
Natural variantiVAR_083860 | 320 | R → W in TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay. 3 PublicationsCorresponds to variant dbSNP:rs1288977950EnsemblClinVar. | 1 | |
Natural variantiVAR_083861 | 321 | H → N in TLIND; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083862 | 325 | L → P in TLIND; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083865 | 474 – 648 | Missing in TLIND. 1 PublicationAdd BLAST | 175 |
T-cell immunodeficiency with thymic aplasia (TIDTA)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083863 | 363 – 368 | WKRKDP → C in TIDTA; decreased transcriptional activity as shown by a transcriptional reporter assay. 1 Publication | 6 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 8456 |
MalaCardsi | FOXN1 |
MIMi | 242700, phenotype 601705, phenotype 618806, phenotype |
OpenTargetsi | ENSG00000109101 |
Orphaneti | 169095, Severe combined immunodeficiency due to FOXN1 deficiency |
PharmGKBi | PA37368 |
Miscellaneous databases
Pharosi | O15353, Tbio |
Genetic variation databases
BioMutai | FOXN1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000091866 | 1 – 648 | Forkhead box protein N1Add BLAST | 648 |
Proteomic databases
jPOSTi | O15353 |
MassIVEi | O15353 |
MaxQBi | O15353 |
PaxDbi | O15353 |
PeptideAtlasi | O15353 |
PRIDEi | O15353 |
ProteomicsDBi | 48606 |
PTM databases
iPTMneti | O15353 |
PhosphoSitePlusi | O15353 |
Expressioni
Tissue specificityi
Expressed in thymus.
Gene expression databases
Bgeei | ENSG00000109101, Expressed in skin of leg and 69 other tissues |
ExpressionAtlasi | O15353, baseline and differential |
Genevisiblei | O15353, HS |
Organism-specific databases
HPAi | ENSG00000109101, Tissue enhanced (esophagus, lymphoid tissue, skin, tongue) |
Interactioni
Binary interactionsi
Hide detailsO15353
Protein-protein interaction databases
BioGRIDi | 114034, 36 interactors |
IntActi | O15353, 36 interactors |
MINTi | O15353 |
STRINGi | 9606.ENSP00000226247 |
Miscellaneous databases
RNActi | O15353, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O15353 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Phylogenomic databases
eggNOGi | KOG2294, Eukaryota |
GeneTreei | ENSGT00940000158029 |
HOGENOMi | CLU_031768_1_0_1 |
InParanoidi | O15353 |
OMAi | CYGQTYP |
OrthoDBi | 438804at2759 |
PhylomeDBi | O15353 |
TreeFami | TF329867 |
Family and domain databases
CDDi | cd00059, FH, 1 hit |
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR001766, Fork_head_dom IPR030456, TF_fork_head_CS_2 IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
Pfami | View protein in Pfam PF00250, Forkhead, 1 hit |
PRINTSi | PR00053, FORKHEAD |
SMARTi | View protein in SMART SM00339, FH, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS00658, FORK_HEAD_2, 1 hit PS50039, FORK_HEAD_3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
O15353-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketJ3KRT9 | J3KRT9_HUMAN | Forkhead box protein N1 | FOXN1 | 117 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020025 | 69 | R → C. Corresponds to variant dbSNP:rs2071587EnsemblClinVar. | 1 | |
Natural variantiVAR_083857 | 169 | E → K in TLIND; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083858 | 242 | P → S Does not affect transcriptional activity as shown by a transcriptional reporter assay. 1 PublicationCorresponds to variant dbSNP:rs140921495EnsemblClinVar. | 1 | |
Natural variantiVAR_083859 | 255 – 648 | Missing in TIDAND and TLIND. 5 PublicationsAdd BLAST | 394 | |
Natural variantiVAR_010376 | 283 | A → V1 Publication | 1 | |
Natural variantiVAR_083860 | 320 | R → W in TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay. 3 PublicationsCorresponds to variant dbSNP:rs1288977950EnsemblClinVar. | 1 | |
Natural variantiVAR_083861 | 321 | H → N in TLIND; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083862 | 325 | L → P in TLIND; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083863 | 363 – 368 | WKRKDP → C in TIDTA; decreased transcriptional activity as shown by a transcriptional reporter assay. 1 Publication | 6 | |
Natural variantiVAR_021843 | 411 | R → W. Corresponds to variant dbSNP:rs2286520Ensembl. | 1 | |
Natural variantiVAR_083864 | 430 | P → S Does not affect transcriptional activity as shown by a transcriptional reporter assay. 1 PublicationCorresponds to variant dbSNP:rs61749867EnsemblClinVar. | 1 | |
Natural variantiVAR_083865 | 474 – 648 | Missing in TLIND. 1 PublicationAdd BLAST | 175 | |
Natural variantiVAR_020026 | 599 | A → 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 |
CCDSi | CCDS11232.1 |
RefSeqi | NP_003584.2, NM_003593.2 XP_005258103.1, XM_005258046.3 |
Genome annotation databases
Ensembli | ENST00000226247; ENSP00000226247; ENSG00000109101 ENST00000579795; ENSP00000464645; ENSG00000109101 |
GeneIDi | 8456 |
KEGGi | hsa:8456 |
UCSCi | uc002hbj.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
FOXN1base FOXN1 mutation db |
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 |
CCDSi | CCDS11232.1 |
RefSeqi | NP_003584.2, NM_003593.2 XP_005258103.1, XM_005258046.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5OCN | X-ray | 2.70 | A/B/C/D/E/F/G/H | 270-366 | [»] | |
6EL8 | X-ray | 1.61 | A/D | 270-366 | [»] | |
SMRi | O15353 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114034, 36 interactors |
IntActi | O15353, 36 interactors |
MINTi | O15353 |
STRINGi | 9606.ENSP00000226247 |
PTM databases
iPTMneti | O15353 |
PhosphoSitePlusi | O15353 |
Genetic variation databases
BioMutai | FOXN1 |
Proteomic databases
jPOSTi | O15353 |
MassIVEi | O15353 |
MaxQBi | O15353 |
PaxDbi | O15353 |
PeptideAtlasi | O15353 |
PRIDEi | O15353 |
ProteomicsDBi | 48606 |
Protocols and materials databases
Antibodypediai | 14085, 257 antibodies |
DNASUi | 8456 |
Genome annotation databases
Ensembli | ENST00000226247; ENSP00000226247; ENSG00000109101 ENST00000579795; ENSP00000464645; ENSG00000109101 |
GeneIDi | 8456 |
KEGGi | hsa:8456 |
UCSCi | uc002hbj.4, human |
Organism-specific databases
CTDi | 8456 |
DisGeNETi | 8456 |
GeneCardsi | FOXN1 |
HGNCi | HGNC:12765, FOXN1 |
HPAi | ENSG00000109101, Tissue enhanced (esophagus, lymphoid tissue, skin, tongue) |
MalaCardsi | FOXN1 |
MIMi | 242700, phenotype 600838, gene 601705, phenotype 618806, phenotype |
neXtProti | NX_O15353 |
OpenTargetsi | ENSG00000109101 |
Orphaneti | 169095, Severe combined immunodeficiency due to FOXN1 deficiency |
PharmGKBi | PA37368 |
VEuPathDBi | HostDB:ENSG00000109101.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2294, Eukaryota |
GeneTreei | ENSGT00940000158029 |
HOGENOMi | CLU_031768_1_0_1 |
InParanoidi | O15353 |
OMAi | CYGQTYP |
OrthoDBi | 438804at2759 |
PhylomeDBi | O15353 |
TreeFami | TF329867 |
Enzyme and pathway databases
PathwayCommonsi | O15353 |
SIGNORi | O15353 |
Miscellaneous databases
BioGRID-ORCSi | 8456, 8 hits in 895 CRISPR screens |
ChiTaRSi | FOXN1, human |
GeneWikii | FOXN1 |
GenomeRNAii | 8456 |
Pharosi | O15353, Tbio |
PROi | PR:O15353 |
RNActi | O15353, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000109101, Expressed in skin of leg and 69 other tissues |
ExpressionAtlasi | O15353, baseline and differential |
Genevisiblei | O15353, HS |
Family and domain databases
CDDi | cd00059, FH, 1 hit |
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR001766, Fork_head_dom IPR030456, TF_fork_head_CS_2 IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
Pfami | View protein in Pfam PF00250, Forkhead, 1 hit |
PRINTSi | PR00053, FORKHEAD |
SMARTi | View protein in SMART SM00339, FH, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS00658, FORK_HEAD_2, 1 hit PS50039, FORK_HEAD_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FOXN1_HUMAN | |
Accessioni | O15353Primary (citable) accession number: O15353 Secondary accession number(s): B2R9Q7, O15352 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2001 |
Last sequence update: | January 1, 1998 | |
Last modified: | February 10, 2021 | |
This is version 178 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references