InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NKX2-1

Summary

InnateDB Protein

IDBP-477344.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NKX2-1

Protein Name

NK2 homeobox 1

Synonyms

BCH; BHC; NK-2; NKX2.1; NKX2A; T/EBP; TEBP; TITF1; TTF-1; TTF1;

Species

Homo sapiens

Ensembl Protein

ENSP00000429519

InnateDB Gene

IDBG-4959 (NKX2-1)

Protein Structure

UniProt Annotation

Function

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). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

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. {ECO:0000269PubMed:11971878, ECO:0000269PubMed:15955952}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:11854318, ECO:0000269PubMed:11854319, ECO:0000269PubMed:15289765}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Thyroid and lung.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	13 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001047	core promoter binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0019899	enzyme binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0007420	brain development
GO:0009725	response to hormone
GO:0010628	positive regulation of gene expression
GO:0010719	negative regulation of epithelial to mesenchymal transition
GO:0021759	globus pallidus development
GO:0030324	lung development
GO:0030336	negative regulation of cell migration
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030878	thyroid gland development
GO:0030900	forebrain development
GO:0042753	positive regulation of circadian rhythm
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0060441	epithelial tube branching involved in lung morphogenesis