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P43699

- NKX21_HUMAN

UniProt

P43699 - NKX21_HUMAN

Protein

Homeobox protein Nkx-2.1

Gene

NKX2-1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 1 (01 Nov 1995)
      Previous versions | rss
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    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. 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)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi161 – 22060HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. core promoter binding Source: UniProtKB
    2. DNA binding Source: UniProtKB
    3. enzyme binding Source: UniProt
    4. protein binding Source: UniProtKB
    5. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
    6. sequence-specific DNA binding Source: Ensembl
    7. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    8. transcription regulatory region DNA binding Source: UniProtKB

    GO - Biological processi

    1. anatomical structure formation involved in morphogenesis Source: Ensembl
    2. axon guidance Source: Ensembl
    3. brain development Source: UniProtKB
    4. cerebral cortex cell migration Source: Ensembl
    5. cerebral cortex GABAergic interneuron differentiation Source: Ensembl
    6. Clara cell differentiation Source: Ensembl
    7. developmental induction Source: Ensembl
    8. endoderm development Source: Ensembl
    9. epithelial tube branching involved in lung morphogenesis Source: UniProtKB
    10. forebrain development Source: UniProtKB
    11. forebrain dorsal/ventral pattern formation Source: Ensembl
    12. forebrain neuron fate commitment Source: Ensembl
    13. globus pallidus development Source: UniProtKB
    14. hippocampus development Source: Ensembl
    15. Leydig cell differentiation Source: Ensembl
    16. locomotory behavior Source: Ensembl
    17. lung development Source: UniProtKB
    18. lung saccule development Source: Ensembl
    19. menarche Source: Ensembl
    20. negative regulation of cell migration Source: UniProtKB
    21. negative regulation of epithelial to mesenchymal transition Source: UniProtKB
    22. negative regulation of transcription, DNA-templated Source: UniProtKB
    23. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    24. negative regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
    25. neuron migration Source: Ensembl
    26. oligodendrocyte differentiation Source: Ensembl
    27. phospholipid metabolic process Source: Ensembl
    28. pituitary gland development Source: Ensembl
    29. positive regulation of circadian rhythm Source: UniProtKB
    30. positive regulation of gene expression Source: UniProtKB
    31. positive regulation of transcription, DNA-templated Source: UniProtKB
    32. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    33. response to hormone Source: UniProtKB
    34. thyroid gland development Source: UniProtKB
    35. Type II pneumocyte differentiation Source: Ensembl

    Keywords - Molecular functioni

    Activator, Repressor

    Keywords - Biological processi

    Biological rhythms, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    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
    Gene namesi
    Name:NKX2-1
    Synonyms:NKX2A, TITF1, TTF1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:11825. NKX2-1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB
    3. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Chorea, hereditary benign (BHC) [MIM:118700]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti208 – 2081W → L in BHC. 1 Publication
    Corresponds to variant rs28936672 [ dbSNP | Ensembl ].
    VAR_015188
    Natural varianti213 – 2131R → S in BHC. 1 Publication
    Corresponds to variant rs28936671 [ dbSNP | Ensembl ].
    VAR_015189
    Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) [MIM:610978]: An 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti205 – 2051V → F in CAHTP. 1 Publication
    VAR_034906

    Keywords - Diseasei

    Congenital hypothyroidism, Disease mutation

    Organism-specific databases

    MIMi118700. phenotype.
    610978. phenotype.
    Orphaneti95713. Athyreosis.
    1429. Benign familial chorea.
    209905. Brain-lung-thyroid syndrome.
    146. Papillary or follicular thyroid carcinoma.
    95720. Thyroid hypoplasia.
    PharmGKBiPA36531.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 371371Homeobox protein Nkx-2.1PRO_0000049343Add
    BLAST

    Post-translational modificationi

    Phosphorylated on serine residues by STK3/MST2.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP43699.
    PaxDbiP43699.
    PRIDEiP43699.

    PTM databases

    PhosphoSiteiP43699.

    Expressioni

    Tissue specificityi

    Thyroid and lung.

    Gene expression databases

    ArrayExpressiP43699.
    BgeeiP43699.
    CleanExiHS_NKX2-1.
    HS_TTF1.
    GenevestigatoriP43699.

    Organism-specific databases

    HPAiCAB000078.

    Interactioni

    Subunit structurei

    Interacts with WWTR1.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CCDC59Q9P0314EBI-1391923,EBI-1047110
    NCK1P163332EBI-1391923,EBI-389883

    Protein-protein interaction databases

    BioGridi112936. 11 interactions.
    IntActiP43699. 8 interactions.
    MINTiMINT-192847.
    STRINGi9606.ENSP00000346879.

    Structurei

    3D structure databases

    ProteinModelPortaliP43699.
    SMRiP43699. Positions 161-227.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi234 – 24310Poly-Gly
    Compositional biasi246 – 2538Poly-Gln
    Compositional biasi294 – 30310Poly-Ala

    Sequence similaritiesi

    Belongs to the NK-2 homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG328614.
    HOGENOMiHOG000231923.
    HOVERGENiHBG006689.
    InParanoidiP43699.
    KOiK09342.
    OMAiKSMAPLQ.
    OrthoDBiEOG769ZK0.
    PhylomeDBiP43699.
    TreeFamiTF351204.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P43699-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' 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

    MSMSPKHTTP FSVSDILSPL EESYKKVGME GGGLGAPLAA YRQGQAAPPT    50
    AAMQQHAVGH HGAVTAAYHM TAAGVPQLSH SAVGGYCNGN LGNMSELPPY 100
    QDTMRNSASG PGWYGANPDP RFPAISRFMG PASGMNMSGM GGLGSLGDVS 150
    KNMAPLPSAP RRKRRVLFSQ AQVYELERRF KQQKYLSAPE REHLASMIHL 200
    TPTQVKIWFQ NHRYKMKRQA KDKAAQQQLQ QDSGGGGGGG GTGCPQQQQA 250
    QQQSPRRVAV PVLVKDGKPC QAGAPAPGAA SLQGHAQQQA QHQAQAAQAA 300
    AAAISVGSGG AGLGAHPGHQ PGSAGQSPDL AHHAASPAAL QGQVSSLSHL 350
    NSSGSDYGTM SCSTLLYGRT W 371
    Length:371
    Mass (Da):38,596
    Last modified:November 1, 1995 - v1
    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

    Sequence cautioni

    The sequence AAH06221.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA23527.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti49 – 491P → H in BAA23527. 1 PublicationCurated
    Sequence conflicti49 – 491P → H in BAA23529. 1 PublicationCurated
    Sequence conflicti61 – 611H → P in BAA23527. 1 PublicationCurated
    Sequence conflicti61 – 611H → P in BAA23529. 1 PublicationCurated
    Sequence conflicti158 – 1581S → T in BAA23527. 1 PublicationCurated
    Sequence conflicti158 – 1581S → T in BAA23529. 1 PublicationCurated
    Sequence conflicti161 – 1611R → G in BAA23527. 1 PublicationCurated
    Sequence conflicti161 – 1611R → G in BAA23529. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti205 – 2051V → F in CAHTP. 1 Publication
    VAR_034906
    Natural varianti208 – 2081W → L in BHC. 1 Publication
    Corresponds to variant rs28936672 [ dbSNP | Ensembl ].
    VAR_015188
    Natural varianti213 – 2131R → S in BHC. 1 Publication
    Corresponds to variant rs28936671 [ dbSNP | Ensembl ].
    VAR_015189

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MWSGGSGKARGWEAAAGGRS SPGRLSRRRIM in isoform 3. 3 PublicationsVSP_037890

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    UniGeneiHs.94367.

    Genome annotation databases

    EnsembliENST00000354822; ENSP00000346879; ENSG00000136352. [P43699-3]
    ENST00000498187; ENSP00000429607; ENSG00000136352. [P43699-1]
    ENST00000518149; ENSP00000428341; ENSG00000136352. [P43699-1]
    ENST00000522719; ENSP00000429519; ENSG00000136352. [P43699-1]
    GeneIDi7080.
    KEGGihsa:7080.
    UCSCiuc001wtt.3. human. [P43699-1]
    uc001wtu.3. human. [P43699-3]

    Polymorphism databases

    DMDMi1174819.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS41945.1. [P43699-3 ]
    CCDS9659.1. [P43699-1 ]
    PIRi G02321.
    RefSeqi NP_001073136.1. NM_001079668.2. [P43699-3 ]
    NP_003308.1. NM_003317.3. [P43699-1 ]
    UniGenei Hs.94367.

    3D structure databases

    ProteinModelPortali P43699.
    SMRi P43699. Positions 161-227.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112936. 11 interactions.
    IntActi P43699. 8 interactions.
    MINTi MINT-192847.
    STRINGi 9606.ENSP00000346879.

    PTM databases

    PhosphoSitei P43699.

    Polymorphism databases

    DMDMi 1174819.

    Proteomic databases

    MaxQBi P43699.
    PaxDbi P43699.
    PRIDEi P43699.

    Protocols and materials databases

    DNASUi 7080.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000354822 ; ENSP00000346879 ; ENSG00000136352 . [P43699-3 ]
    ENST00000498187 ; ENSP00000429607 ; ENSG00000136352 . [P43699-1 ]
    ENST00000518149 ; ENSP00000428341 ; ENSG00000136352 . [P43699-1 ]
    ENST00000522719 ; ENSP00000429519 ; ENSG00000136352 . [P43699-1 ]
    GeneIDi 7080.
    KEGGi hsa:7080.
    UCSCi uc001wtt.3. human. [P43699-1 ]
    uc001wtu.3. human. [P43699-3 ]

    Organism-specific databases

    CTDi 7080.
    GeneCardsi GC14M036985.
    HGNCi HGNC:11825. NKX2-1.
    HPAi CAB000078.
    MIMi 118700. phenotype.
    600635. gene.
    610978. phenotype.
    neXtProti NX_P43699.
    Orphaneti 95713. Athyreosis.
    1429. Benign familial chorea.
    209905. Brain-lung-thyroid syndrome.
    146. Papillary or follicular thyroid carcinoma.
    95720. Thyroid hypoplasia.
    PharmGKBi PA36531.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG328614.
    HOGENOMi HOG000231923.
    HOVERGENi HBG006689.
    InParanoidi P43699.
    KOi K09342.
    OMAi KSMAPLQ.
    OrthoDBi EOG769ZK0.
    PhylomeDBi P43699.
    TreeFami TF351204.

    Miscellaneous databases

    GeneWikii NK2_homeobox_1.
    GenomeRNAii 7080.
    NextBioi 27693.
    PROi P43699.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P43699.
    Bgeei P43699.
    CleanExi HS_NKX2-1.
    HS_TTF1.
    Genevestigatori P43699.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The complete nucleotide sequence of the mouse thyroid-specific enhancer-binding protein (T/EBP) gene: extensive identity of the deduced amino acid sequence with the human protein."
      Oguchi H., Pan Y.-T., Kimura S.
      Biochim. Biophys. Acta 1261:304-306(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Lung.
    2. "Cloning and sequence analysis of human thyroid transcription factor 1."
      Saiardi A., Tassi V., de Filippis V., Civitareale D.
      Biochim. Biophys. Acta 1261:307-310(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Thyroid.
    3. "Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells."
      Ikeda K., Clark J.C., Shaw-White J.R., Stahlman M.T., Boutell C.J., Whitsett J.A.
      J. Biol. Chem. 270:8108-8114(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3).
      Tissue: Lung.
    5. "Cloning of the human TTF-1 gene."
      Endo T., Ohno M., Nakazato M.
      Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
      Tissue: Thyroid.
    6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    7. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Lung.
    10. "TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation."
      Di Palma T., D'Andrea B., Liguori G.L., Liguoro A., de Cristofaro T., Del Prete D., Pappalardo A., Mascia A., Zannini M.
      Exp. Cell Res. 315:162-175(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH WWTR1.
    11. Cited for: VARIANTS BHC LEU-208 AND SER-213.
    12. "Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice."
      Pohlenz J., Dumitrescu A., Zundel D., Martine U., Schoenberger W., Koo E., Weiss R.E., Cohen R.N., Kimura S., Refetoff S.
      J. Clin. Invest. 109:469-473(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CAHTP.
    13. Cited for: VARIANT CAHTP PHE-205.
    14. "Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1."
      Doyle D.A., Gonzalez I., Thomas B., Scavina M.
      J. Pediatr. 145:190-193(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CAHTP.
    15. "A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa."
      Asmus F., Horber V., Pohlenz J., Schwabe D., Zimprich A., Munz M., Schoening M., Gasser T.
      Neurology 64:1952-1954(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CAHTP AND IN BHC.

    Entry informationi

    Entry nameiNKX21_HUMAN
    AccessioniPrimary (citable) accession number: P43699
    Secondary accession number(s): D3DSA3
    , O14954, O14955, Q7KZF6, Q9BRJ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: November 1, 1995
    Last modified: October 1, 2014
    This is version 146 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 14
      Human chromosome 14: 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