InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NKX2-1

Summary

InnateDB Gene

IDBG-4959.6

Last Modified

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

Gene Symbol

NKX2-1

Gene Name

NK2 homeobox 1

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000136352

Encoded Proteins

IDBP-4963

NK2 homeobox 1

IDBP-475326

NK2 homeobox 1

IDBP-475135

NK2 homeobox 1

IDBP-477344

NK2 homeobox 1

IDBP-589978

NK2 homeobox 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TFF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Apr 2011]
This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias \'TTF1\' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 14:36516392-36521149

Strand

Reverse strand

Band

q13.3

Transcripts

ENST00000354822	ENSP00000346879
ENST00000498187	ENSP00000429607
ENST00000518149	ENSP00000428341
ENST00000522719	ENSP00000429519
ENST00000546983	ENSP00000449302

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:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0019899	enzyme binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001764	neuron migration
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0006644	phospholipid metabolic process
GO:0007389	pattern specification process
GO:0007411	axon guidance
GO:0007420	brain development
GO:0007492	endoderm development
GO:0007626	locomotory behavior
GO:0009725	response to hormone
GO:0009887	organ morphogenesis
GO:0010628	positive regulation of gene expression
GO:0010719	negative regulation of epithelial to mesenchymal transition
GO:0021537	telencephalon development
GO:0021759	globus pallidus development
GO:0021766	hippocampus development
GO:0021795	cerebral cortex cell migration
GO:0021798	forebrain dorsal/ventral pattern formation
GO:0021877	forebrain neuron fate commitment
GO:0021879	forebrain neuron differentiation
GO:0021892	cerebral cortex GABAergic interneuron differentiation
GO:0021895	cerebral cortex neuron differentiation
GO:0021983	pituitary gland development
GO:0022029	telencephalon cell migration
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:0031128	developmental induction
GO:0033327	Leydig cell differentiation
GO:0042696	menarche
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:0048646	anatomical structure formation involved in morphogenesis
GO:0048663	neuron fate commitment
GO:0048709	oligodendrocyte differentiation
GO:0060430	lung saccule development
GO:0060441	epithelial tube branching involved in lung morphogenesis
GO:0060486	Clara cell differentiation
GO:0060510	Type II pneumocyte differentiation

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005667	transcription factor complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000001496

View Gene Order

ENSBTAG00000000541

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

hnf3bpathway

FOXA2 and FOXA3 transcription factor networks

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.698322 Hs.715763 Hs.94367

RefSeq

NM_001079668 NM_003317

HUGO

OMIM

CCDS

CCDS41945 CCDS9659

HPRD

02798

IMGT

EMBL

GenPept

RNA Seq Atlas