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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

Previous GeneCards Identifiers for OTX1 Gene

  • GC02P063406
  • GC02P063234
  • GC02P063252
  • GC02P063189
  • GC02P063131
  • GC02P063016
  • GC02P063277

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 agnathia-otocephaly complex and acrofacial dysostosis 1, nager type. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and DAG and IP3 signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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

Regulatory Elements for OTX1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for OTX1 Gene

Chromosome:
2
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

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 & Families for OTX1 Gene

Gene Families for OTX1 Gene

Graphical View of Domain Structure for InterPro Entry

P32242

UniProtKB/Swiss-Prot:

OTX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family. Bicoid subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family. Bicoid subfamily.
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 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 18849347
GO:0003677 DNA binding --
GO:0003700 transcription factor activity, sequence-specific DNA binding --
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:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OTX1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 3
cytosol 2

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 & Interactions for OTX1 Gene

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

Pathways by source for OTX1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for OTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0006366 transcription from RNA polymerase II promoter IDA 18849347
GO:0007275 multicellular organismal development --
GO:0009952 anterior/posterior pattern specification IEA --
genes like me logo Genes that share ontologies with OTX1: view

No data available for SIGNOR curated interactions for OTX1 Gene

Drugs & Compounds for OTX1 Gene

No Compound Related Data Available

Transcripts for OTX1 Gene

Unigene Clusters for OTX1 Gene

Orthodenticle homeobox 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OTX1

Flow Cytometry Products

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 (x14.7), Skin - Sun Exposed (Lower leg) (x8.7), and Skin - Not Sun Exposed (Suprapubic) (x6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with OTX1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for OTX1 Gene

Orthologs for OTX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OTX1 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia OTX1 35
  • 98.78 (n)
  • 97.74 (a)
OTX1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otx1 35
  • 88.7 (n)
  • 97.18 (a)
oppossum
(Monodelphis domestica)
Mammalia OTX1 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTX1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTX1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75643 35
otx1 35
  • 75.08 (n)
  • 83.59 (a)
African clawed frog
(Xenopus laevis)
Amphibia otx1-A 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
otx1b 35
  • 74.92 (n)
  • 82.35 (a)
otx1a 36
  • 69 (a)
OneToMany
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

(9) 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, nc-transcript-variant
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

Variation tolerance for OTX1 Gene

Residual Variation Intolerance Score: 14.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.12% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(2) MalaCards diseases for OTX1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
agnathia-otocephaly complex
  • dysgnathia complex agnathia-holoprosencephaly
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
- elite association
Search OTX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for OTX1

Genetic Association Database (GAD)
OTX1
Human Genome Epidemiology (HuGE) Navigator
OTX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OTX1
genes like me logo Genes that share disorders with OTX1: view

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

Publications for OTX1 Gene

  1. Evolution of Otx paralogue usages in early patterning of the vertebrate head. (PMID: 18848537) Suda Y. … Aizawa S. (Dev. Biol. 2009) 23 67
  2. Developmental lineage of cell types in cortical dysplasia with balloon cells. (PMID: 17711980) Lamparello P. … Crino P.B. (Brain 2007) 23 67
  3. Development and evolution of the vestibular sensory apparatus of the mammalian ear. (PMID: 16614470) Beisel K.W. … Fritzsch B. (J Vestib Res 2005) 23 67
  4. Unequal distribution of otx1 mRnas among cleavage stage blastomeres in the teleost, Leucopsarion petersii (shiro-uo). (PMID: 12653255) Kamimoto M. … Nakatsuji T. (Int. J. Dev. Biol. 2003) 23 67
  5. 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) 23 67

Products for OTX1 Gene

Sources for OTX1 Gene

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