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UniProtKB - P43699 (NKX21_HUMAN)

Entry version 200 (07 Apr 2021)
Sequence version 1 (01 Nov 1995)
Previous versions | rss
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Protein

Homeobox protein Nkx-2.1

Gene

NKX2-1

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

Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity).By similarity

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 bindingi161 – 220HomeoboxPROSITE-ProRule annotationAdd BLAST60

<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 functionActivator, DNA-binding, Repressor
Biological processBiological rhythms, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P43699

SIGNOR Signaling Network Open Resource

More...SIGNORi		P43699

<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:
Homeobox protein Nkx-2.1
Alternative name(s):
Homeobox protein NK-2 homolog A
Thyroid nuclear factor 1
Thyroid transcription factor 1
Short name:
TTF-1
Thyroid-specific enhancer-binding protein
Short name:
T/EBP
<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:NKX2-1Imported
Synonyms:NKX2A, TITF1, TTF1
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11825, NKX2-1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600635, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P43699

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000136352.17

<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

Chorea, hereditary benign (BHC)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.
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_075209172Q → H in BHC; decrease in DNA-binding; no effect on transcription activation from thyroglobulin/TG, nor from pulmonary surfactant-associated protein C/SFTPC gene promoters. 1 Publication1
Natural variantiVAR_077542179R → P in BHC; unknown pathological significance. 1 Publication1
Natural variantiVAR_015188208W → L in BHC. 1 PublicationCorresponds to variant dbSNP:rs28936672Ensembl.1
Natural variantiVAR_075210208W → S in BHC; loss of transcription activation. 1 Publication1
Natural variantiVAR_015189213R → S in BHC. 1 PublicationCorresponds to variant dbSNP:rs28936671Ensembl.1
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073040203T → R in CAHTP. 1 Publication1
Natural variantiVAR_034906205V → F in CAHTP. 2 PublicationsCorresponds to variant dbSNP:rs137852692Ensembl.1
Thyroid cancer, non-medullary, 1 (NMTC1)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075769339A → V in NMTC1; loss of transcription regulatory region DNA binding; decreased transcription factor activity, sequence-specific DNA binding; tested for the thyroglobulin gene; associated with dominant impairment of thyroid-specific genes transcription and increased thyroid cells proliferation. 1 PublicationCorresponds to variant dbSNP:rs537209983Ensembl.1

Keywords - Diseasei

Congenital hypothyroidism, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		7080

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		NKX2-1

MalaCards human disease database

More...MalaCardsi		NKX2-1
MIMi118700, phenotype
188550, phenotype
610978, phenotype

Open Targets

More...OpenTargetsi		ENSG00000136352

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

More...Orphaneti		95713, Athyreosis
1429, Benign hereditary chorea
209905, Brain-lung-thyroid syndrome
146, Differentiated thyroid carcinoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36531

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P43699, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NKX2-1

Domain mapping of disease mutations (DMDM)

More...DMDMi		1174819

<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_00000493431 – 371Homeobox protein Nkx-2.1Add BLAST371

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei254PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on serine residues by STK3/MST2.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P43699

MaxQB - The MaxQuant DataBase

More...MaxQBi		P43699

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

More...PaxDbi		P43699

PeptideAtlas

More...PeptideAtlasi		P43699

PRoteomics IDEntifications database

More...PRIDEi		P43699

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55653 [P43699-1]
55654 [P43699-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P43699

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

More...PhosphoSitePlusi		P43699

<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

Thyroid and lung.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136352, Expressed in left lobe of thyroid gland and 108 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P43699, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P43699, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000136352, Group enriched (lung, thyroid gland)

<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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with WWTR1.

1 Publication

<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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112936, 164 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6062, SMAD3-TTF-1 complex

Protein interaction database and analysis system

More...IntActi		P43699, 10 interactors

Molecular INTeraction database

More...MINTi		P43699

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000346879

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P43699, 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

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P43699

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

More...SMRi		P43699

Database of comparative protein structure models

More...ModBasei		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

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi234 – 243Poly-Gly10
Compositional biasi246 – 253Poly-Gln8
Compositional biasi294 – 303Poly-Ala10

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NK-2 homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0842, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161107

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_052416_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P43699

Identification of Orthologs from Complete Genome Data

More...OMAi		HPMGHNG

Database of Orthologous Groups

More...OrthoDBi		1209625at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P43699

TreeFam database of animal gene trees

More...TreeFami		TF351204

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR020479, Homeobox_metazoa

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00024, HOMEOBOX

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 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>Sequences (2)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 describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P43699-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSMSPKHTTP FSVSDILSPL EESYKKVGME GGGLGAPLAA YRQGQAAPPT 
        60         70         80         90        100
AAMQQHAVGH HGAVTAAYHM TAAGVPQLSH SAVGGYCNGN LGNMSELPPY 
       110        120        130        140        150
QDTMRNSASG PGWYGANPDP RFPAISRFMG PASGMNMSGM GGLGSLGDVS 
       160        170        180        190        200
KNMAPLPSAP RRKRRVLFSQ AQVYELERRF KQQKYLSAPE REHLASMIHL 
       210        220        230        240        250
TPTQVKIWFQ NHRYKMKRQA KDKAAQQQLQ QDSGGGGGGG GTGCPQQQQA 
       260        270        280        290        300
QQQSPRRVAV PVLVKDGKPC QAGAPAPGAA SLQGHAQQQA QHQAQAAQAA 
       310        320        330        340        350
AAAISVGSGG AGLGAHPGHQ PGSAGQSPDL AHHAASPAAL QGQVSSLSHL 
       360        370 
NSSGSDYGTM SCSTLLYGRT W
Length:371
Mass (Da):38,596
Last modified:November 1, 1995 - 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:i5F1E3B40A1BBD862
GO
Isoform 3 (identifier: P43699-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MWSGGSGKARGWEAAAGGRSSPGRLSRRRIM

Show »
Length:401
Mass (Da):41,737
Checksum:i40324D55128D4394
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH06221 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA23527 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti49P → H in BAA23527 (Ref. 5) Curated1
Sequence conflicti49P → H in BAA23529 (Ref. 5) Curated1
Sequence conflicti61H → P in BAA23527 (Ref. 5) Curated1
Sequence conflicti61H → P in BAA23529 (Ref. 5) Curated1
Sequence conflicti158S → T in BAA23527 (Ref. 5) Curated1
Sequence conflicti158S → T in BAA23529 (Ref. 5) Curated1
Sequence conflicti161R → G in BAA23527 (Ref. 5) Curated1
Sequence conflicti161R → G in BAA23529 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075209172Q → H in BHC; decrease in DNA-binding; no effect on transcription activation from thyroglobulin/TG, nor from pulmonary surfactant-associated protein C/SFTPC gene promoters. 1 Publication1
Natural variantiVAR_077542179R → P in BHC; unknown pathological significance. 1 Publication1
Natural variantiVAR_073040203T → R in CAHTP. 1 Publication1
Natural variantiVAR_034906205V → F in CAHTP. 2 PublicationsCorresponds to variant dbSNP:rs137852692Ensembl.1
Natural variantiVAR_015188208W → L in BHC. 1 PublicationCorresponds to variant dbSNP:rs28936672Ensembl.1
Natural variantiVAR_075210208W → S in BHC; loss of transcription activation. 1 Publication1
Natural variantiVAR_015189213R → S in BHC. 1 PublicationCorresponds to variant dbSNP:rs28936671Ensembl.1
Natural variantiVAR_075769339A → V in NMTC1; loss of transcription regulatory region DNA binding; decreased transcription factor activity, sequence-specific DNA binding; tested for the thyroglobulin gene; associated with dominant impairment of thyroid-specific genes transcription and increased thyroid cells proliferation. 1 PublicationCorresponds to variant dbSNP:rs537209983Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0378901M → MWSGGSGKARGWEAAAGGRS SPGRLSRRRIM in isoform 3. 3 Publications1

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
U19756 mRNA Translation: AAA86099.1
X82850 mRNA Translation: CAA58053.1
U19816 Genomic DNA Translation: AAC50125.1
U33749 mRNA Translation: AAB52381.1
U43203 mRNA Translation: AAA89066.1
D50739 Genomic DNA Translation: BAA23527.1 Sequence problems.
D50740 mRNA Translation: BAA23529.1
BT009773 mRNA Translation: AAP88775.1
AL132857 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65858.1
CH471078 Genomic DNA Translation: EAW65856.1
CH471078 Genomic DNA Translation: EAW65859.1
BC006221 mRNA Translation: AAH06221.2 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41945.1 [P43699-3]
CCDS9659.1 [P43699-1]

Protein sequence database of the Protein Information Resource

More...PIRi		G02321

NCBI Reference Sequences

More...RefSeqi		NP_001073136.1, NM_001079668.2 [P43699-3]
NP_003308.1, NM_003317.3 [P43699-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000354822; ENSP00000346879; ENSG00000136352 [P43699-3]
ENST00000498187; ENSP00000429607; ENSG00000136352 [P43699-1]
ENST00000518149; ENSP00000428341; ENSG00000136352 [P43699-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7080

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7080

UCSC genome browser

More...UCSCi		uc001wtt.4, human [P43699-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U19756 mRNA Translation: AAA86099.1
X82850 mRNA Translation: CAA58053.1
U19816 Genomic DNA Translation: AAC50125.1
U33749 mRNA Translation: AAB52381.1
U43203 mRNA Translation: AAA89066.1
D50739 Genomic DNA Translation: BAA23527.1 Sequence problems.
D50740 mRNA Translation: BAA23529.1
BT009773 mRNA Translation: AAP88775.1
AL132857 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65858.1
CH471078 Genomic DNA Translation: EAW65856.1
CH471078 Genomic DNA Translation: EAW65859.1
BC006221 mRNA Translation: AAH06221.2 Different initiation.
CCDSiCCDS41945.1 [P43699-3]
CCDS9659.1 [P43699-1]
PIRiG02321
RefSeqiNP_001073136.1, NM_001079668.2 [P43699-3]
NP_003308.1, NM_003317.3 [P43699-1]

3D structure databases

BMRBiP43699
SMRiP43699
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi112936, 164 interactors
ComplexPortaliCPX-6062, SMAD3-TTF-1 complex
IntActiP43699, 10 interactors
MINTiP43699
STRINGi9606.ENSP00000346879

PTM databases

iPTMnetiP43699
PhosphoSitePlusiP43699

Genetic variation databases

BioMutaiNKX2-1
DMDMi1174819

Proteomic databases

MassIVEiP43699
MaxQBiP43699
PaxDbiP43699
PeptideAtlasiP43699
PRIDEiP43699
ProteomicsDBi55653 [P43699-1]
55654 [P43699-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3519, 1042 antibodies

The DNASU plasmid repository

More...DNASUi		7080

Genome annotation databases

EnsembliENST00000354822; ENSP00000346879; ENSG00000136352 [P43699-3]
ENST00000498187; ENSP00000429607; ENSG00000136352 [P43699-1]
ENST00000518149; ENSP00000428341; ENSG00000136352 [P43699-1]
GeneIDi7080
KEGGihsa:7080
UCSCiuc001wtt.4, human [P43699-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7080
DisGeNETi7080

GeneCards: human genes, protein and diseases

More...GeneCardsi		NKX2-1
GeneReviewsiNKX2-1
HGNCiHGNC:11825, NKX2-1
HPAiENSG00000136352, Group enriched (lung, thyroid gland)
MalaCardsiNKX2-1
MIMi118700, phenotype
188550, phenotype
600635, gene
610978, phenotype
neXtProtiNX_P43699
OpenTargetsiENSG00000136352
Orphaneti95713, Athyreosis
1429, Benign hereditary chorea
209905, Brain-lung-thyroid syndrome
146, Differentiated thyroid carcinoma
PharmGKBiPA36531
VEuPathDBiHostDB:ENSG00000136352.17

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0842, Eukaryota
GeneTreeiENSGT00940000161107
HOGENOMiCLU_052416_0_0_1
InParanoidiP43699
OMAiHPMGHNG
OrthoDBi1209625at2759
PhylomeDBiP43699
TreeFamiTF351204

Enzyme and pathway databases

PathwayCommonsiP43699
SIGNORiP43699

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7080, 19 hits in 991 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NK2_homeobox_1

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

More...GenomeRNAii		7080
PharosiP43699, Tbio

Protein Ontology

More...PROi		PR:P43699
RNActiP43699, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136352, Expressed in left lobe of thyroid gland and 108 other tissues
ExpressionAtlasiP43699, baseline and differential
GenevisibleiP43699, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR020479, Homeobox_metazoa
PfamiView protein in Pfam
PF00046, Homeodomain, 1 hit
PRINTSiPR00024, HOMEOBOX
SMARTiView protein in SMART
SM00389, HOX, 1 hit
SUPFAMiSSF46689, SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiNKX21_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: P43699
Secondary accession number(s): D3DSA3
, O14954, O14955, Q7KZF6, Q9BRJ8
<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: November 1, 1995
Last sequence update: November 1, 1995
Last modified: April 7, 2021
This is version 200 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

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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