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Otp orthopedia homeobox [ Mus musculus (house mouse) ]

Gene ID: 18420, updated on 11-Apr-2024

Summary

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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 forebrain 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, Apr 2022]
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

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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_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46389 Neighboring gene STARR-seq mESC enhancer starr_35313 Neighboring gene tubulin cofactor A Neighboring gene STARR-seq mESC enhancer starr_35314 Neighboring gene STARR-seq mESC enhancer starr_35315 Neighboring gene STARR-seq mESC enhancer starr_35319 Neighboring gene STARR-seq mESC enhancer starr_35320 Neighboring gene predicted gene, 41024 Neighboring gene WD repeat domain 41 Neighboring gene predicted gene, 48350

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Development and characterization of an Otp conditional loss of function allele. Hu Y, et al. Genesis, 2020 Sep. PMID 32468663
  2. Otp maps to mouse chromosome 13. Wang W, et al. Mamm Genome, 1997 Jul. PMID 9196005
  3. Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety. Moir L, et al. Mol Metab, 2017 Nov. PMID 29107289, Free PMC Article
  4. Role of homeobox genes in the hypothalamic development and energy balance. Kaji T, et al. Front Biosci (Landmark Ed), 2013 Jan 1. PMID 23276958
  5. Developmental analysis of murine Promyelocyte Leukemia Zinc Finger (PLZF) gene expression: implications for the neuromeric model of the forebrain organization. Avantaggiato V, et al. J Neurosci, 1995 Jul. PMID 7623123, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

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

General gene information

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Markers

Homology

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 factor 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 ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
  
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 
acts_upstream_of_or_within multicellular organism development 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_or_within nervous system development IEA
Inferred from Electronic Annotation
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 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in fibrillar center ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
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)

  1. 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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    95012144..95021633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_006517568.4 → XP_006517631.1  homeobox protein orthopedia isoform X2

    Conserved Domains (1) summary
    pfam03826
    Location:203 → 221
    OAR; OAR domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O09113.1 GenPept UniProtKB/Swiss-Prot:O09113

Gene LinkOut

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