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UniProtKB - O15353 (FOXN1_HUMAN)

Entry version 180 (02 Jun 2021)
Sequence version 1 (01 Jan 1998)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi271 – 367Fork-headPROSITE-ProRule annotationAdd BLAST97

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O15353

SIGNOR Signaling Network Open Resource

More...SIGNORi		O15353

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Forkhead box protein N1
Alternative name(s):
Winged-helix transcription factor nude
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FOXN1
Synonyms:RONU, WHN
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:12765, FOXN1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600838, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O15353

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000109101.7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_083859255 – 648Missing in TIDAND and TLIND. 5 PublicationsAdd BLAST394
Natural variantiVAR_083860320R → 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083857169E → K in TLIND; unknown pathological significance. 1 Publication1
Natural variantiVAR_083859255 – 648Missing in TIDAND and TLIND. 5 PublicationsAdd BLAST394
Natural variantiVAR_083860320R → 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_083861321H → N in TLIND; unknown pathological significance. 1 Publication1
Natural variantiVAR_083862325L → P in TLIND; unknown pathological significance. 1 Publication1
Natural variantiVAR_083865474 – 648Missing in TLIND. 1 PublicationAdd BLAST175
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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083863363 – 368WKRKDP → C in TIDTA; decreased transcriptional activity as shown by a transcriptional reporter assay. 1 Publication6

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		8456

MalaCards human disease database

More...MalaCardsi		FOXN1
MIMi242700, phenotype
601705, phenotype
618806, phenotype

Open Targets

More...OpenTargetsi		ENSG00000109101

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		169095, Severe combined immunodeficiency due to FOXN1 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37368

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O15353, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FOXN1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000918661 – 648Forkhead box protein N1Add BLAST648

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O15353

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O15353

MaxQB - The MaxQuant DataBase

More...MaxQBi		O15353

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O15353

PeptideAtlas

More...PeptideAtlasi		O15353

PRoteomics IDEntifications database

More...PRIDEi		O15353

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48606

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O15353

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O15353

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in thymus.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000109101, Expressed in skin of leg and 69 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O15353, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O15353, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000109101, Tissue enhanced (esophagus, lymphoid tissue, skin, tongue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114034, 36 interactors

Protein interaction database and analysis system

More...IntActi		O15353, 36 interactors

Molecular INTeraction database

More...MINTi		O15353

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000226247

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O15353, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1648
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O15353

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 105DisorderedSequence analysisAdd BLAST105
Regioni392 – 445DisorderedSequence analysisAdd BLAST54
Regioni458 – 508DisorderedSequence analysisAdd BLAST51
Regioni623 – 648DisorderedSequence analysisAdd BLAST26

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi42 – 56Polar residuesSequence analysisAdd BLAST15
Compositional biasi405 – 435Pro residuesSequence analysisAdd BLAST31

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2294, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158029

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_031768_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O15353

Identification of Orthologs from Complete Genome Data

More...OMAi		CYGQTYP

Database of Orthologous Groups

More...OrthoDBi		438804at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O15353

TreeFam database of animal gene trees

More...TreeFami		TF329867

Family and domain databases

Conserved Domains Database

More...CDDi		cd00059, FH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00250, Forkhead, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00053, FORKHEAD

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00339, FH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46785, SSF46785, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00658, FORK_HEAD_2, 1 hit
PS50039, FORK_HEAD_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
« 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF32F4C95627E60DE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KRT9J3KRT9_HUMAN
Forkhead box protein N1
FOXN1
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02002569R → C. Corresponds to variant dbSNP:rs2071587EnsemblClinVar.1
Natural variantiVAR_083857169E → K in TLIND; unknown pathological significance. 1 Publication1
Natural variantiVAR_083858242P → S Does not affect transcriptional activity as shown by a transcriptional reporter assay. 1 PublicationCorresponds to variant dbSNP:rs140921495EnsemblClinVar.1
Natural variantiVAR_083859255 – 648Missing in TIDAND and TLIND. 5 PublicationsAdd BLAST394
Natural variantiVAR_010376283A → V1 Publication1
Natural variantiVAR_083860320R → 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_083861321H → N in TLIND; unknown pathological significance. 1 Publication1
Natural variantiVAR_083862325L → P in TLIND; unknown pathological significance. 1 Publication1
Natural variantiVAR_083863363 – 368WKRKDP → C in TIDTA; decreased transcriptional activity as shown by a transcriptional reporter assay. 1 Publication6
Natural variantiVAR_021843411R → W. Corresponds to variant dbSNP:rs2286520Ensembl.1
Natural variantiVAR_083864430P → S Does not affect transcriptional activity as shown by a transcriptional reporter assay. 1 PublicationCorresponds to variant dbSNP:rs61749867EnsemblClinVar.1
Natural variantiVAR_083865474 – 648Missing in TLIND. 1 PublicationAdd BLAST175
Natural variantiVAR_020026599A → P. Corresponds to variant dbSNP:rs532648EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
Y11741 Y11746 Genomic DNA Translation: CAA72417.1
Y11739 mRNA Translation: CAA72416.1
AK313878 mRNA Translation: BAG36604.1
CH471159 Genomic DNA Translation: EAW51092.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11232.1

NCBI Reference Sequences

More...RefSeqi		NP_003584.2, NM_003593.2
XP_005258103.1, XM_005258046.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000226247; ENSP00000226247; ENSG00000109101
ENST00000579795; ENSP00000464645; ENSG00000109101

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8456

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8456

UCSC genome browser

More...UCSCi		uc002hbj.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

FOXN1base

FOXN1 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y11741 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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5OCNX-ray2.70A/B/C/D/E/F/G/H270-366[»]
6EL8X-ray1.61A/D270-366[»]
SMRiO15353
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114034, 36 interactors
IntActiO15353, 36 interactors
MINTiO15353
STRINGi9606.ENSP00000226247

PTM databases

iPTMnetiO15353
PhosphoSitePlusiO15353

Genetic variation databases

BioMutaiFOXN1

Proteomic databases

jPOSTiO15353
MassIVEiO15353
MaxQBiO15353
PaxDbiO15353
PeptideAtlasiO15353
PRIDEiO15353
ProteomicsDBi48606

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		14085, 265 antibodies

The DNASU plasmid repository

More...DNASUi		8456

Genome annotation databases

EnsembliENST00000226247; ENSP00000226247; ENSG00000109101
ENST00000579795; ENSP00000464645; ENSG00000109101
GeneIDi8456
KEGGihsa:8456
UCSCiuc002hbj.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8456
DisGeNETi8456

GeneCards: human genes, protein and diseases

More...GeneCardsi		FOXN1
HGNCiHGNC:12765, FOXN1
HPAiENSG00000109101, Tissue enhanced (esophagus, lymphoid tissue, skin, tongue)
MalaCardsiFOXN1
MIMi242700, phenotype
600838, gene
601705, phenotype
618806, phenotype
neXtProtiNX_O15353
OpenTargetsiENSG00000109101
Orphaneti169095, Severe combined immunodeficiency due to FOXN1 deficiency
PharmGKBiPA37368
VEuPathDBiHostDB:ENSG00000109101.7

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2294, Eukaryota
GeneTreeiENSGT00940000158029
HOGENOMiCLU_031768_1_0_1
InParanoidiO15353
OMAiCYGQTYP
OrthoDBi438804at2759
PhylomeDBiO15353
TreeFamiTF329867

Enzyme and pathway databases

PathwayCommonsiO15353
SIGNORiO15353

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8456, 8 hits in 1007 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		FOXN1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FOXN1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		8456
PharosiO15353, Tbio

Protein Ontology

More...PROi		PR:O15353
RNActiO15353, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000109101, Expressed in skin of leg and 69 other tissues
ExpressionAtlasiO15353, baseline and differential
GenevisibleiO15353, HS

Family and domain databases

CDDicd00059, FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR001766, Fork_head_dom
IPR030456, TF_fork_head_CS_2
IPR036388, WH-like_DNA-bd_sf
IPR036390, WH_DNA-bd_sf
PfamiView protein in Pfam
PF00250, Forkhead, 1 hit
PRINTSiPR00053, FORKHEAD
SMARTiView protein in SMART
SM00339, FH, 1 hit
SUPFAMiSSF46785, SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS00658, FORK_HEAD_2, 1 hit
PS50039, FORK_HEAD_3, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFOXN1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15353
Secondary accession number(s): B2R9Q7, O15352
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 1, 1998
Last modified: June 2, 2021
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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