O15353 · FOXN1_HUMAN
- ProteinForkhead box protein N1
- GeneFOXN1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids648 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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).
Plays a crucial role in the early prenatal stages of T-cell ontogeny (PubMed:21507891).
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
DNA binding | 271-367 | Fork-head | |||
GO annotations
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameForkhead box protein N1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO15353
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND)
- Note
- DescriptionA disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails.
- See alsoMIM:601705
Natural variants in TIDAND
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_083859 | 255-648 | missing | in TIDAND and TLIND | |
VAR_083860 | 320 | R>W | in TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs1288977950 |
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND)
- Note
- 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.
- See alsoMIM:618806
Natural variants in TLIND
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_083857 | 169 | E>K | in TLIND; uncertain significance | |
VAR_083859 | 255-648 | missing | in TIDAND and TLIND | |
VAR_083860 | 320 | R>W | in TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs1288977950 | |
VAR_083861 | 321 | H>N | in TLIND; uncertain significance | |
VAR_083862 | 325 | L>P | in TLIND; uncertain significance | |
VAR_083865 | 474-648 | missing | in TLIND |
T-cell immunodeficiency with thymic aplasia (TIDTA)
- Note
- 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.
- See alsoMIM:242700
Natural variants in TIDTA
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_083863 | 363-368 | WKRKDP>C | in TIDTA; decreased transcriptional activity as shown by a transcriptional reporter assay |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Natural variant | VAR_020025 | 69 | in dbSNP:rs2071587 | ||
Natural variant | VAR_083857 | 169 | in TLIND; uncertain significance | ||
Natural variant | VAR_083858 | 242 | does not affect transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs140921495 | ||
Natural variant | VAR_083859 | 255-648 | in TIDAND and TLIND | ||
Natural variant | VAR_010376 | 283 | |||
Natural variant | VAR_083860 | 320 | in TIDAND and TLIND; severely reduced transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs1288977950 | ||
Natural variant | VAR_083861 | 321 | in TLIND; uncertain significance | ||
Natural variant | VAR_083862 | 325 | in TLIND; uncertain significance | ||
Natural variant | VAR_083863 | 363-368 | in TIDTA; decreased transcriptional activity as shown by a transcriptional reporter assay | ||
Natural variant | VAR_021843 | 411 | in dbSNP:rs2286520 | ||
Natural variant | VAR_083864 | 430 | does not affect transcriptional activity as shown by a transcriptional reporter assay; dbSNP:rs61749867 | ||
Natural variant | VAR_083865 | 474-648 | in TLIND | ||
Natural variant | VAR_020026 | 599 | in dbSNP:rs532648 | ||
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 899 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Chain | PRO_0000091866 | 1-648 | Forkhead box protein N1 | ||
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in thymus.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | IntAct | |
---|---|---|---|---|---|
BINARY | O15353 | CDA P32320 | 3 | EBI-11319000, EBI-9250559 | |
BINARY | O15353 | CDC23 Q9UJX2 | 3 | EBI-11319000, EBI-396137 | |
BINARY | O15353 | DMRT3 Q9NQL9 | 3 | EBI-11319000, EBI-9679045 | |
BINARY | O15353 | HOXA1 P49639 | 3 | EBI-11319000, EBI-740785 | |
BINARY | O15353 | LHX8 Q68G74 | 3 | EBI-11319000, EBI-8474075 | |
BINARY | O15353 | MAPKBP1 O60336 | 3 | EBI-11319000, EBI-947402 | |
BINARY | O15353 | PIN1 Q13526 | 3 | EBI-11319000, EBI-714158 | |
BINARY | O15353 | SPATC1L Q9H0A9-2 | 3 | EBI-11319000, EBI-11995806 | |
BINARY | O15353 | TLE5 Q08117-2 | 3 | EBI-11319000, EBI-11741437 | |
BINARY | O15353 | TRAF2 Q12933 | 3 | EBI-11319000, EBI-355744 | |
BINARY | O15353 | TRAPPC6A O75865-2 | 3 | EBI-11319000, EBI-8451480 | |
BINARY | O15353 | TSSK1B Q9BXA7 | 4 | EBI-11319000, EBI-6423734 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Region | 1-105 | Disordered | |||
Compositional bias | 42-56 | Polar residues | |||
Region | 392-445 | Disordered | |||
Compositional bias | 405-435 | Pro residues | |||
Region | 458-508 | Disordered | |||
Region | 623-648 | Disordered | |||
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length648
- Mass (Da)68,925
- Last updated1998-01-01 v1
- MD5 Checksum952A512A1DEEEFE16BFA570AB8DED578
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
J3KRT9 | J3KRT9_HUMAN | FOXN1 | 117 |
Features
Showing features for compositional bias.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Compositional bias | 42-56 | Polar residues | |||
Compositional bias | 405-435 | Pro residues | |||
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
Y11741 EMBL· GenBank· DDBJ | CAA72417.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y11742 EMBL· GenBank· DDBJ | CAA72417.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y11743 EMBL· GenBank· DDBJ | CAA72417.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y11744 EMBL· GenBank· DDBJ | CAA72417.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y11745 EMBL· GenBank· DDBJ | CAA72417.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y11746 EMBL· GenBank· DDBJ | CAA72417.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y11739 EMBL· GenBank· DDBJ | CAA72416.1 EMBL· GenBank· DDBJ | mRNA | ||
AK313878 EMBL· GenBank· DDBJ | BAG36604.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471159 EMBL· GenBank· DDBJ | EAW51092.1 EMBL· GenBank· DDBJ | Genomic DNA |