Otp orthopedia homeobox [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Otpprovided by MGI
Official Full Name: orthopedia homeoboxprovided by MGI
Primary source: MGI:MGI:99835
See related: Ensembl:ENSMUSG00000021685 AllianceGenome:MGI:99835
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of or within nervous system development and positive regulation of neuroblast proliferation. Predicted to be located in fibrillar center and nuclear body. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Orthologous to human OTP (orthopedia homeobox). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in whole brain E14.5 (RPKM 2.8), CNS E14 (RPKM 2.1) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C3; 13 49.22 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (95012144..95021633)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (94875636..94885125)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We tested the functional consequences of the novel human OTP mutations and Q83K as well as the mouse R108W mutant; all affect residues that are highly conserved across species. On a single site response element, wild-type OTP was found to act as a repressor; both R108W and Q153R abolished this repression
Title: Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.
Studies revealed that Dlx1/2 and Otp are required for the specification of growth hormone-releasing hormone (GHRH)- and AgRP-neurons, respectively. Dlx1/2 suppress agouti-related protein (AgRP)-neuronal fate by directly binding and repressing the Otp gene, uncovering a novel Dlx1/2-Otp gene regulatory axis critical for the segregation of GHRH- and AgRP-neuronal fates.
Title: Dlx1/2 and Otp coordinate the production of hypothalamic GHRH- and AgRP-neurons.
Otp and TTF-1 are essential for the normal morphological development of the hypothalamus, including the arcuate nucleus [review]
Title: Role of homeobox genes in the hypothalamic development and energy balance.
diencephalic neurons colonize the telencephalic amygdaloid complex, migrating along a tangential route that crosses a boundary between developing brain vesicles. The diencephalic transcription factor OTP was necessary for this migratory behavior
Title: A neuronal migratory pathway crossing from diencephalon to telencephalon populates amygdala nuclei.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Targeted (5) 1 citation

General gene information

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Markers

D13Mit258 (e-PCR), detects polymorphism
- UniSTS:127074

NoName (e-PCR)
- UniSTS:495046

NoName (e-PCR)
- UniSTS:487657

Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within dopaminergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hypothalamus cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuroendocrine cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurohypophysis development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in fibrillar center	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: homeobox protein orthopedia

Names: orthopedia homolog

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_011021.5 → NP_035151.1 homeobox protein orthopedia

See identical proteins and their annotated locations for NP_035151.1

Status: VALIDATED

Source sequence(s)

AC140840, LXEJ02010047

Consensus CDS

CCDS26695.1

UniProtKB/Swiss-Prot

O09113

Related

ENSMUSP00000022195.10, ENSMUST00000022195.13

Conserved Domains (2) summary

pfam00046
Location:107 → 156

Homeobox; Homeobox domain

pfam03826
Location:303 → 320

OAR; OAR domain

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_000079.7 Reference GRCm39 C57BL/6J

Range

95012144..95021633

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006517567.5 → XP_006517630.1 homeobox protein orthopedia isoform X1

See identical proteins and their annotated locations for XP_006517630.1

Conserved Domains (2) summary

pfam00046
Location:94 → 143

Homeobox; Homeobox domain

pfam03826
Location:290 → 307

OAR; OAR domain
XM_006517568.4 → XP_006517631.1 homeobox protein orthopedia isoform X2

Conserved Domains (1) summary

pfam03826
Location:203 → 221

OAR; OAR domain