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Protein

Forkhead box protein N1

Gene

FOXN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi271 – 36797Fork-headPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: GO_Central
  • defense response Source: ProtInc
  • epidermis development Source: ProtInc
  • epithelial cell proliferation Source: Ensembl
  • hair follicle development Source: Ensembl
  • keratinocyte differentiation Source: Ensembl
  • lymphocyte homeostasis Source: Ensembl
  • nail development Source: Ensembl
  • organ morphogenesis Source: ProtInc
  • regulation of T cell differentiation in thymus Source: Ensembl
  • regulation of transcription from RNA polymerase II promoter Source: ProtInc
  • thymus development Source: Ensembl
  • transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:12765. FOXN1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: ProtInc
Complete GO annotation...

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

MIMi601705. phenotype.
Orphaneti169095. Alymphoid cystic thymic dysgenesis.
PharmGKBiPA37368.

Polymorphism and mutation databases

BioMutaiFOXN1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 648648Forkhead box protein N1PRO_0000091866Add
BLAST

Proteomic databases

PaxDbiO15353.
PRIDEiO15353.

PTM databases

PhosphoSiteiO15353.

Expressioni

Tissue specificityi

Expressed in thymus.

Gene expression databases

BgeeiO15353.
CleanExiHS_FOXN1.
ExpressionAtlasiO15353. baseline and differential.
GenevisibleiO15353. HS.

Organism-specific databases

HPAiHPA041520.

Structurei

3D structure databases

ProteinModelPortaliO15353.
SMRiO15353. Positions 275-350.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00790000122977.
HOGENOMiHOG000059593.
HOVERGENiHBG051653.
InParanoidiO15353.
KOiK09407.
OMAiGHSFKTP.
PhylomeDBiO15353.
TreeFamiTF329867.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
PROSITEiPS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti69 – 691R → C.
Corresponds to variant rs2071587 [ dbSNP | Ensembl ].
VAR_020025
Natural varianti283 – 2831A → V.1 Publication
VAR_010376
Natural varianti411 – 4111R → W.
Corresponds to variant rs2286520 [ dbSNP | Ensembl ].
VAR_021843
Natural varianti599 – 5991A → P.
Corresponds to variant rs532648 [ dbSNP | Ensembl ].
VAR_020026

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.3. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS11232.1.
RefSeqiNP_003584.2. NM_003593.2.
XP_005258103.1. XM_005258046.3.
UniGeneiHs.58611.
Hs.663679.

3D structure databases

ProteinModelPortaliO15353.
SMRiO15353. Positions 275-350.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

PhosphoSiteiO15353.

Polymorphism and mutation databases

BioMutaiFOXN1.

Proteomic databases

PaxDbiO15353.
PRIDEiO15353.

Protocols and materials databases

DNASUi8456.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000226247; ENSP00000226247; ENSG00000109101.
ENST00000579795; ENSP00000464645; ENSG00000109101.
GeneIDi8456.
KEGGihsa:8456.
UCSCiuc002hbj.3. human.

Organism-specific databases

CTDi8456.
GeneCardsiGC17P026850.
H-InvDBHIX0039248.
HGNCiHGNC:12765. FOXN1.
HPAiHPA041520.
MIMi600838. gene.
601705. phenotype.
neXtProtiNX_O15353.
Orphaneti169095. Alymphoid cystic thymic dysgenesis.
PharmGKBiPA37368.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00790000122977.
HOGENOMiHOG000059593.
HOVERGENiHBG051653.
InParanoidiO15353.
KOiK09407.
OMAiGHSFKTP.
PhylomeDBiO15353.
TreeFamiTF329867.

Miscellaneous databases

GeneWikiiFOXN1.
GenomeRNAii8456.
NextBioi31648.
PROiO15353.
SOURCEiSearch...

Gene expression databases

BgeeiO15353.
CleanExiHS_FOXN1.
ExpressionAtlasiO15353. baseline and differential.
GenevisibleiO15353. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
PROSITEiPS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of mouse and human nude genes."
    Schorpp M., Hofmann M., Dear T.N., Boehm T.
    Immunogenetics 46:509-515(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT VAL-283.
    Tissue: Thymus.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Thymus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: INVOLVEMENT IN TIDAND.
  5. Cited for: FUNCTION, INVOLVEMENT IN TIDAND.
  6. "FOXN1: a master regulator gene of thymic epithelial development program."
    Romano R., Palamaro L., Fusco A., Giardino G., Gallo V., Del Vecchio L., Pignata C.
    Front. Immunol. 4:187-187(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  7. Cited for: REVIEW.

Entry informationi

Entry nameiFOXN1_HUMAN
AccessioniPrimary (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: June 24, 2015
This is version 135 of the entry and version 1 of the sequence. [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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.