Free for academic non-profit institutions. Other users need a Commercial license

Aliases for OTX1 Gene

Aliases for OTX1 Gene

  • Orthodenticle Homeobox 1 2 3
  • Orthodenticle (Drosophila) Homolog 1 2
  • Orthodenticle Homolog 1 (Drosophila) 2
  • Orthodenticle Homolog 1 4

External Ids for OTX1 Gene

Summaries for OTX1 Gene

Entrez Gene Summary for OTX1 Gene

  • This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

GeneCards Summary for OTX1 Gene

OTX1 (Orthodenticle Homeobox 1) is a Protein Coding gene. Diseases associated with OTX1 include autism spectrum disorder. Among its related pathways are Ca-dependent events and Transcriptional Regulatory Network in Embryonic Stem Cell. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PITX3.

UniProtKB/Swiss-Prot for OTX1 Gene

  • Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5-TCTAATCCC-3

Gene Wiki entry for OTX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTX1 Gene

Genomics for OTX1 Gene

Genomic Location for OTX1 Gene

Start:
63,050,057 bp from pter
End:
63,057,836 bp from pter
Size:
7,780 bases
Orientation:
Plus strand

Genomic View for OTX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OTX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTX1 Gene

Regulatory Elements for OTX1 Gene

Proteins for OTX1 Gene

  • Protein details for OTX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32242-OTX1_HUMAN
    Recommended name:
    Homeobox protein OTX1
    Protein Accession:
    P32242
    Secondary Accessions:
    • A6NHA2
    • B3KTJ4
    • Q53TG6

    Protein attributes for OTX1 Gene

    Size:
    354 amino acids
    Molecular mass:
    37327 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OTX1 Gene

Proteomics data for OTX1 Gene at MOPED

Post-translational modifications for OTX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTX1 Gene

No data available for DME Specific Peptides for OTX1 Gene

Domains for OTX1 Gene

Gene Families for OTX1 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Graphical View of Domain Structure for InterPro Entry

P32242

UniProtKB/Swiss-Prot:

OTX1_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • P32242
Family:
  • Belongs to the paired homeobox family. Bicoid subfamily.:
    • P32242
genes like me logo Genes that share domains with OTX1: view

Function for OTX1 Gene

Molecular function for OTX1 Gene

GENATLAS Biochemistry: Drosophila orthodenticle (otd) homolog,paired-like homeo domain encoding gene 1,expressed in the developing brain of mouse embryo,required for corticogenesis and sense organ development
UniProtKB/Swiss-Prot Function: Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5-TCTAATCCC-3

Gene Ontology (GO) - Molecular Function for OTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 18849347
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 18849347
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with OTX1: view
genes like me logo Genes that share phenotypes with OTX1: view

Animal Models for OTX1 Gene

MGI Knock Outs for OTX1:

miRNA for OTX1 Gene

miRTarBase miRNAs that target OTX1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for OTX1 Gene

Localization for OTX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OTX1 Gene COMPARTMENTS Subcellular localization image for OTX1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for OTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with OTX1: view

Pathways for OTX1 Gene

genes like me logo Genes that share pathways with OTX1: view

Pathways by source for OTX1 Gene

Gene Ontology (GO) - Biological Process for OTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0007275 multicellular organismal development --
GO:0009952 anterior/posterior pattern specification IEA --
GO:0022037 metencephalon development IEA --
GO:0030900 forebrain development --
genes like me logo Genes that share ontologies with OTX1: view

Transcripts for OTX1 Gene

Unigene Clusters for OTX1 Gene

Orthodenticle homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OTX1 Gene

No ASD Table

Relevant External Links for OTX1 Gene

GeneLoc Exon Structure for
OTX1
ECgene alternative splicing isoforms for
OTX1

Expression for OTX1 Gene

mRNA expression in normal human tissues for OTX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OTX1 Gene

This gene is overexpressed in Minor Salivary Gland (14.7), Skin - Sun Exposed (Lower leg) (8.7), and Skin - Not Sun Exposed (Suprapubic) (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for OTX1 Gene

SOURCE GeneReport for Unigene cluster for OTX1 Gene Hs.734360

mRNA Expression by UniProt/SwissProt for OTX1 Gene

P32242-OTX1_HUMAN
Tissue specificity: Expressed in brain. Detected in the anterior part of the neural fetal retina (at protein level).
genes like me logo Genes that share expressions with OTX1: view

Orthologs for OTX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OTX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OTX1 35
  • 98.78 (n)
  • 97.74 (a)
OTX1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OTX1 35
  • 89.74 (n)
  • 97.74 (a)
OTX1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTX1 35
  • 90.4 (n)
  • 97.18 (a)
OTX1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Otx1 35
  • 88.79 (n)
  • 97.46 (a)
Otx1 16
Otx1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OTX1 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otx1 35
  • 88.7 (n)
  • 97.18 (a)
chicken
(Gallus gallus)
Aves OTX1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTX1 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia otx1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75643 35
otx1 35
  • 75.08 (n)
  • 83.59 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
otx1a 36
  • 69 (a)
OneToMany
otx1b 35
  • 74.92 (n)
  • 82.35 (a)
otx1b 36
  • 83 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta oc 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CS-OTX 36
  • 39 (a)
OneToMany
Species with no ortholog for OTX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OTX1 Gene

ENSEMBL:
Gene Tree for OTX1 (if available)
TreeFam:
Gene Tree for OTX1 (if available)

Paralogs for OTX1 Gene

Paralogs for OTX1 Gene

Selected SIMAP similar genes for OTX1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with OTX1: view

Variants for OTX1 Gene

Sequence variations from dbSNP and Humsavar for OTX1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1061384 -- 63,057,778(-) GAGGG(A/G)GACTG utr-variant-3-prime
rs2075375 -- 63,053,555(-) TGGGT(A/G)CAGGA intron-variant
rs2162011 -- 63,055,432(-) CCCCG(C/T)GGACC intron-variant
rs6759043 -- 63,052,592(+) GCTTG(C/T)ACACT intron-variant
rs10203236 -- 63,051,552(+) AAAGT(A/C)TTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OTX1 Gene

Variant ID Type Subtype PubMed ID
nsv7313 OTHER Inversion 18451855
nsv874233 CNV Loss 21882294

Relevant External Links for OTX1 Gene

HapMap Linkage Disequilibrium report
OTX1
Human Gene Mutation Database (HGMD)
OTX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTX1 Gene

Disorders for OTX1 Gene

(1) MalaCards Diseases for OTX1 Gene

Search for OTX1 Gene in MalaCards »

Relevant External Links for OTX1

Genetic Association Database (GAD)
OTX1
Human Genome Epidemiology (HuGE) Navigator
OTX1
genes like me logo Genes that share disorders with OTX1: view

No data available for UniProtKB/Swiss-Prot for OTX1 Gene

Publications for OTX1 Gene

  1. Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1. (PMID: 11901358) Francks C. … Monaco A.P. (Psychiatr. Genet. 2002) 3 23
  2. Chromosome locations of human EMX and OTX genes. (PMID: 7959790) Kastury K. … Boncinelli E. (Genomics 1994) 2 3
  3. A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo. (PMID: 8101484) Simeone A. … Boncinelli E. (EMBO J. 1993) 3 4
  4. Epilepsy and brain abnormalities in mice lacking the Otx1 gene. (PMID: 8841200) Acampora D. … Simeone A. (Nat. Genet. 1996) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for OTX1 Gene

Sources for OTX1 Gene

Back to Top

Content