FOXN1
entrez
8456
canonical
uniprot
O15353
canonical
ensembl
ENSG00000109101
resolver
ensp
ENSP00000226247
resolver
ensp
ENSP00000462159
resolver
ensp
ENSP00000464645
resolver
enst
ENST00000226247
resolver
enst
ENST00000577936
resolver
enst
ENST00000579795
resolver
genesymbol
FOXN1
resolver
genesymbol_syn
RONU
resolver
genesymbol_syn
WHN
resolver
hgnc
HGNC:12765
resolver
uniprot
B2R9Q7
resolver
uniprot
O15352
resolver
uniprot_entry
FOXN1_HUMAN
resolver
uniprot_sec
B2R9Q7
resolver
uniprot_sec
O15352
resolver
amino_acid_sequence
MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQGHCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEEIPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHDTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA
uniprot
proteins
disease_involvement
DISEASE: T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) [MIM:601705]: A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails. {ECO:0000269|PubMed:10206641, ECO:0000269|PubMed:20978268, ECO:0000269|PubMed:21507891, ECO:0000269|PubMed:25173801, ECO:0000269|PubMed:28636882, ECO:0000269|PubMed:31566583}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant (TLIND) [MIM:618806]: An 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. {ECO:0000269|PubMed:31447097}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: T-cell immunodeficiency with thymic aplasia (TIDTA) [MIM:242700]: An 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. {ECO:0000269|PubMed:31566583}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
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). {ECO:0000250|UniProtKB:Q61575, ECO:0000269|PubMed:21507891}.
uniprot
proteins
mass_dalton
68925
uniprot
proteins
pubmed
10206641
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
20978268
uniprot
proteins
pubmed
21507891
uniprot
proteins
pubmed
23874334
uniprot
proteins
pubmed
24432845
uniprot
proteins
pubmed
25173801
uniprot
proteins
pubmed
28636882
uniprot
proteins
pubmed
31447097
uniprot
proteins
pubmed
31566583
uniprot
proteins
pubmed
9321431
uniprot
proteins
sequence_length
648
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins