Otx1 orthodenticle homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Otx1provided by MGI
Official Full Name: orthodenticle homeobox 1provided by MGI
Primary source: MGI:MGI:97450
See related: Ensembl:ENSMUSG00000005917 AllianceGenome:MGI:97450
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: jv; A730044F23Rik
Summary: This gene encodes a member of the bicoid subfamily of the paired homeobox transcription factor family. The encoded protein is critical to the maintenance and regionalization of the forebrain and midbrain during development. It may also have important functions in sense organ development, pituitary function, and in the regulation of blood cell production. [provided by RefSeq, Jul 2008]
Expression: Biased expression in CNS E11.5 (RPKM 7.7), CNS E14 (RPKM 4.1) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A3.2; 11 14.1 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (21944764..21954044, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (21994764..22001651, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Long non-coding RNA HNF1A-AS1 upregulates OTX1 to enhance angiogenesis in colon cancer via the binding of transcription factor PBX3.
Title: Long non-coding RNA HNF1A-AS1 upregulates OTX1 to enhance angiogenesis in colon cancer via the binding of transcription factor PBX3.
This study demonstrates that Otx1 is one of the key elements regulating cortical neurogenesis, and a loss-of-function in Otx1 may contribute to the overproduction of astrocytes in vivo.
Title: OTX1 regulates cell cycle progression of neural progenitors in the developing cerebral cortex.
Results indicate that the Otx1 expression is essential for the normal development of dendritic morphology, intrinsic electrophysiology and synaptic dynamics of motor cortex layer V pyramidal cells
Title: Otx1 promotes basal dendritic growth and regulates intrinsic electrophysiological and synaptic properties of layer V pyramidal neurons in mouse motor cortex.
the medial pallium requires Otx1 and Otx2 for its development later than E9.5, and the Otx2 expression in diencepalon and mesencephalon later than E9.5 is also directed by an enhancer other than FM1 and FM2 enhancers
Title: Otx2 and Otx1 protect diencephalon and mesencephalon from caudalization into metencephalon during early brain regionalization.
expression of shRNA against GPM6A markedly reduced the expression of neuroectodermal-associated genes (OTX1, Lmx1b, En1, Pax2, Pax5, Sox1, Sox2, and Wnt1), and also the number of neural stem cells (NSC) derived from D3mshM6A cells
Title: Inhibition of mouse GPM6A expression leads to decreased differentiation of neurons derived from mouse embryonic stem cells.
Otx1 is not crucial for the development of visual cortex identity but for the determination of the proportion of cortical areas to the whole neocortex in the mice.
Title: Establishment of framework of the cortical area is influenced by Otx1.
GABAergic markers glutamic acid decarboxylase and parvalbumin were diminished in Otx1(-/-) cortex. The defects found in the cortical GABAergic system of these mice could explain the cortical hyperexcitability that produces seizures in these animals.
Title: Morphological organization of somatosensory cortex in Otx1(-/-) mice.
This study showed that the Otx1 gene has a more complex role and involved in the maturation and differentiation of various cerebral cortices, and, specifically, in the development of Ca-binding proteins (CaBP ).cells.
Title: Role of the Otx1 gene in cell differentiation of mammalian cortex.
Reduction in Otx1 protein near the alar-basal plate boundary in midbrain results in a dorsal shift of Shh expression, and reduction in Otx1 protein at the midbrain-hindbrain boundary results in an anterior expansion of the Fgf8 domain.
Title: Otx dose-dependent integrated control of antero-posterior and dorso-ventral patterning of midbrain.
a function for Otx1 in the regulation of blood cell production.
Title: Unsuspected role of the brain morphogenetic gene Otx1 in hematopoiesis.

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Variation

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Alleles

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

Spontaneous (1)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Otx1 (e-PCR), detects polymorphism
- UniSTS:530693

Otx1 (e-PCR), detects polymorphism
- UniSTS:164914

Otx1 (e-PCR), detects polymorphism
- UniSTS:234049

UniSTS:470671 (e-PCR)
- UniSTS:470671

Otx1 (e-PCR), detects polymorphism
- UniSTS:470671

Otx1 (e-PCR), detects polymorphism
- UniSTS:144101

Otx1 (e-PCR), detects polymorphism
- UniSTS:144102

Otx1 (e-PCR), detects polymorphism
- UniSTS:507882

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterior/posterior pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within diencephalon morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forebrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within metencephalon development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within midbrain development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

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

General protein information

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Preferred Names: homeobox protein OTX1

Names: orthodenticle homolog 1

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_011023.3 → NP_035153.1 homeobox protein OTX1

See identical proteins and their annotated locations for NP_035153.1

Status: REVIEWED

Source sequence(s)

BB652255, BC057105, BC058354

Consensus CDS

CCDS24468.1

UniProtKB/Swiss-Prot

P80205

UniProtKB/TrEMBL

Q5SS54, Q91ZJ3

Related

ENSMUSP00000006071.8, ENSMUST00000006071.14

Conserved Domains (2) summary

pfam00046
Location:42 → 95

Homeobox; Homeobox domain

pfam03529
Location:180 → 274

TF_Otx; Otx1 transcription factor

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

21944764..21954044 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156415.1 → XP_036012308.1 homeobox protein OTX1 isoform X1

UniProtKB/Swiss-Prot

P80205

UniProtKB/TrEMBL

Q5SS54, Q91ZJ3

Conserved Domains (2) summary

pfam00046
Location:42 → 95

Homeobox; Homeobox domain

pfam03529
Location:180 → 274

TF_Otx; Otx1 transcription factor