Nkx1-1 NK1 homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nkx1-1provided by MGI
Official Full Name: NK1 homeobox 1provided by MGI
Primary source: MGI:MGI:109346
See related: Ensembl:ENSMUSG00000029112 AllianceGenome:MGI:109346
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sax2; Nkx-1.1
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including nervous system process; regulation of generation of precursor metabolites and energy; and regulation of glucose metabolic process. Predicted to be active in nucleus. Is expressed in brain. Orthologous to human NKX1-1 (NK1 homeobox 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 5 B1; 5 17.65 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (33588078..33591434, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (33430734..33434090, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sax2 gene expression plays a critical role in diet-induced obesity.
Title: Ablation of Sax2 gene expression prevents diet-induced obesity.
These data strongly suggest that Sax2 is required for the coordinated crosstalk of factors involved in the maintenance of energy homeostasis.
Title: Homeobox gene Sax2 deficiency causes an imbalance in energy homeostasis.
Sax2 gene expression occurs early during embryogenesis in the midbrain, the midbrain-hindbrain boundary, the ventral neural tube, the developing eye, and the apical ectodermal ridge of the limb.
Title: Postnatal lethality in mice lacking the Sax2 homeobox gene homologous to Drosophila S59/slouch: evidence for positive and negative autoregulation.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

General gene information

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Homology

Homologs of the Nkx1-1 gene: The Nkx1-1 gene is conserved in chimpanzee, Rhesus monkey, and rat.
Orthologs from Annotation Pipeline: 391 organisms have orthologs with human gene Nkx1-1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of generation of precursor metabolites and energy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of glucose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: NK1 transcription factor-related protein 1

Names: NK1 transcription factor related, locus 1; homeobox protein SAX-2; spinal cord axial homeobox gene 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011320.1 → NP_035450.1 NK1 transcription factor-related protein 1

Status: PROVISIONAL

Source sequence(s)

AC145072

UniProtKB/Swiss-Prot

G3UXB3

Related

ENSMUSP00000133620.2, ENSMUST00000173348.2

Conserved Domains (1) summary

pfam00046
Location:292 → 344

Homeobox; Homeobox domain