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O15353 (FOXN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Forkhead box protein N1
Alternative name(s):
Winged-helix transcription factor nude
Gene names
Name:FOXN1
Synonyms:RONU, WHN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length648 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Transcriptional regulator involved in development.

Subcellular location

Nucleus.

Tissue specificity

Expressed in thymus.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Contains 1 fork-head DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdefense response

Traceable author statement PubMed 7969402. Source: ProtInc

epidermis development

Traceable author statement PubMed 10767081. Source: ProtInc

epithelial cell proliferation

Inferred from electronic annotation. Source: Ensembl

hair follicle development

Inferred from electronic annotation. Source: Ensembl

keratinocyte differentiation

Inferred from electronic annotation. Source: Ensembl

lymphocyte homeostasis

Inferred from electronic annotation. Source: Ensembl

nail development

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from Biological aspect of Ancestor. Source: RefGenome

organ morphogenesis

Traceable author statement PubMed 7969402. Source: ProtInc

pattern specification process

Inferred from Biological aspect of Ancestor. Source: RefGenome

regulation of T cell differentiation in thymus

Inferred from electronic annotation. Source: Ensembl

regulation of sequence-specific DNA binding transcription factor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

regulation of transcription from RNA polymerase II promoter

Traceable author statement PubMed 10767081. Source: ProtInc

thymus development

Inferred from electronic annotation. Source: Ensembl

transcription from RNA polymerase II promoter

Traceable author statement PubMed 10767081. Source: ProtInc

   Cellular_componentnucleus

Traceable author statement PubMed 10767081. Source: ProtInc

transcription factor complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

   Molecular_functionDNA binding, bending

Inferred from Biological aspect of Ancestor. Source: RefGenome

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

double-stranded DNA binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

transcription factor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 648648Forkhead box protein N1
PRO_0000091866

Regions

DNA binding271 – 36797Fork-head

Natural variations

Natural variant691R → C.
Corresponds to variant rs2071587 [ dbSNP | Ensembl ].
VAR_020025
Natural variant2831A → V. Ref.1
VAR_010376
Natural variant4111R → W.
Corresponds to variant rs2286520 [ dbSNP | Ensembl ].
VAR_021843
Natural variant5991A → P.
Corresponds to variant rs532648 [ dbSNP | Ensembl ].
VAR_020026

Sequences

Sequence LengthMass (Da)Tools
O15353 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: F32F4C95627E60DE

FASTA64868,925
        10         20         30         40         50         60 
MVSLPPPQSD VTLPGPTRLE GERQGDLMQA PGLPGSPAPQ SKHAGFSCSS FVSDGPPERT 

        70         80         90        100        110        120 
PSLPPHSPRI ASPGPEQVQG HCPAGPGPGP FRLSPSDKYP GFGFEEAAAS SPGRFLKGSH 

       130        140        150        160        170        180 
APFHPYKRPF HEDVFPEAET TLALKGHSFK TPGPLEAFEE IPVDVAEAEA FLPGFSAEAW 

       190        200        210        220        230        240 
CNGLPYPSQE HGPQVLGSEV KVKPPVLESG AGMFCYQPPL QHMYCSSQPP FHQYSPGGGS 

       250        260        270        280        290        300 
YPIPYLGSSH YQYQRMAPQA STDGHQPLFP KPIYSYSILI FMALKNSKTG SLPVSEIYNF 

       310        320        330        340        350        360 
MTEHFPYFKT APDGWKNSVR HNLSLNKCFE KVENKSGSSS RKGCLWALNP AKIDKMQEEL 

       370        380        390        400        410        420 
QKWKRKDPIA VRKSMAKPEE LDSLIGDKRE KLGSPLLGCP PPGLSGSGPI RPLAPPAGLS 

       430        440        450        460        470        480 
PPLHSLHPAP GPIPGKNPLQ DLLMGHTPSC YGQTYLHLSP GLAPPGPPQP LFPQPDGHLE 

       490        500        510        520        530        540 
LRAQPGTPQD SPLPAHTPPS HSAKLLAEPS PARTMHDTLL PDGDLGTDLD AINPSLTDFD 

       550        560        570        580        590        600 
FQGNLWEQLK DDSLALDPLV LVTSSPTSSS MPPPQPPPHC FPPGPCLTET GSGAGDLAAP 

       610        620        630        640 
GSGGSGALGD LHLTTLYSAF MELEPTPPTA PAGPSVYLSP SSKPVALA 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Exposing the human nude phenotype."
Frank J., Pignata C., Panteleyev A.A., Prowse D.M., Baden H., Weiner L., Gaetaniello L., Ahmad W., Pozzi N., Cserhalmi-Friedman P.B., Aita V.M., Uyttendaele H., Gordon D., Ott J., Brissette J.L., Christiano A.M.
Nature 398:473-474(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN TIDAND.
+Additional computationally mapped references.

Web resources

FOXN1base

FOXN1 mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y11741 expand/collapse EMBL AC list , 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.
CCDSCCDS11232.1.
RefSeqNP_003584.2. NM_003593.2.
XP_005258103.1. XM_005258046.2.
UniGeneHs.663679.

3D structure databases

ProteinModelPortalO15353.
SMRO15353. Positions 275-350.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000226247.

PTM databases

PhosphoSiteO15353.

Proteomic databases

PaxDbO15353.
PRIDEO15353.

Protocols and materials databases

DNASU8456.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000226247; ENSP00000226247; ENSG00000109101.
ENST00000577642; ENSP00000462216; ENSG00000264253.
ENST00000579795; ENSP00000464645; ENSG00000109101.
ENST00000584474; ENSP00000462876; ENSG00000264253.
GeneID8456.
KEGGhsa:8456.
UCSCuc002hbj.3. human.

Organism-specific databases

CTD8456.
GeneCardsGC17P026850.
H-InvDBHIX0039248.
HGNCHGNC:12765. FOXN1.
HPAHPA041520.
MIM600838. gene.
601705. phenotype.
neXtProtNX_O15353.
Orphanet169095. Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy.
PharmGKBPA37368.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5025.
HOGENOMHOG000059593.
HOVERGENHBG051653.
InParanoidO15353.
KOK09407.
OMAGHSFKTP.
PhylomeDBO15353.
TreeFamTF329867.

Gene expression databases

ArrayExpressO15353.
BgeeO15353.
CleanExHS_FOXN1.
GenevestigatorO15353.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSPR00053. FORKHEAD.
SMARTSM00339. FH. 1 hit.
[Graphical view]
PROSITEPS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFOXN1.
GenomeRNAi8456.
NextBio31648.
PROO15353.
SOURCESearch...

Entry information

Entry nameFOXN1_HUMAN
AccessionPrimary (citable) accession number: O15353
Secondary accession number(s): B2R9Q7, O15352
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 1, 1998
Last modified: July 9, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM