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Aliases for OTX1 Gene

Aliases for OTX1 Gene

  • Orthodenticle Homeobox 1 2 3 5
  • 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 Chromosome 2P16.1-P15 Deletion Syndrome and Agnathia-Otocephaly Complex. Among its related pathways are DAG and IP3 signaling and Transcriptional Regulatory Network in Embryonic Stem Cell. 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 OTX2.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTX1 Gene

Genomics for OTX1 Gene

Regulatory Elements for OTX1 Gene

Enhancers for OTX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G062704 1.4 ENCODE dbSUPER 11.9 -343.9 -343859 3.7 HDGF PKNOX1 FOXA2 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 OTX1 ENSG00000226622 EHBP1 CCT4 ENSG00000252436
GH02G062575 1.8 FANTOM5 Ensembl ENCODE dbSUPER 7.3 -471.7 -471721 5.0 FOXA2 ATF1 MLX ZNF133 SIN3A ZNF48 GTF3C2 SLC30A9 GATA2 FOS ENSG00000226622 EHBP1 OTX1 LOC100132215 CCT4 RSL24D1P2 GC02M062561
GH02G062568 1.5 Ensembl ENCODE dbSUPER 7.6 -479.9 -479923 4.0 HNRNPUL1 FOXA2 MLX ARID4B FEZF1 DMAP1 YY1 PAF1 SP5 ZHX2 EHBP1 ENSG00000226622 OTX1 LOC100132215 GC02M062561 RSL24D1P2
GH02G063190 1 dbSUPER 10.4 +143.0 143021 5.1 HNRNPUL1 FOXA2 ATF1 MLX ARID4B FEZF1 DMAP1 SLC30A9 SP5 NFYC MDH1 OTX1 ENSG00000226622 ENSG00000283636 GC02M063233
GH02G062708 0.8 Ensembl dbSUPER 11.9 -341.1 -341057 0.8 ZNF263 NONO ATF1 ARID4B RBFOX2 OTX1 ENSG00000226622 EHBP1 ENSG00000252436
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OTX1 on UCSC Golden Path with GeneCards custom track

Promoters for OTX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117824 643 1401 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF143 FOS PAF1

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

Genes around OTX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 :
  • Belongs to the paired homeobox family. Bicoid subfamily.
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 IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OTX1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OTX1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

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

Gene Ontology (GO) - Biological Process for OTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OTX1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for OTX1 Gene



NURSA nuclear receptor signaling pathways regulating expression of OTX1 Gene:

OTX1

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).

Evidence on tissue expression from TISSUES for OTX1 Gene

  • Nervous system(4.6)
  • Eye(4.4)
genes like me logo Genes that share expression patterns with OTX1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia OTX1 34 35
  • 98.78 (n)
oppossum
(Monodelphis domestica)
Mammalia OTX1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTX1 34 35
  • 90.4 (n)
cow
(Bos Taurus)
Mammalia OTX1 34 35
  • 89.74 (n)
mouse
(Mus musculus)
Mammalia Otx1 34 16 35
  • 88.79 (n)
rat
(Rattus norvegicus)
Mammalia Otx1 34
  • 88.7 (n)
chicken
(Gallus gallus)
Aves OTX1 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTX1 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otx1 34
  • 75.08 (n)
MGC75643 34
African clawed frog
(Xenopus laevis)
Amphibia otx1-A 34
zebrafish
(Danio rerio)
Actinopterygii otx1b 34 35
  • 74.92 (n)
otx1a 35
  • 69 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta oc 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CS-OTX 35
  • 39 (a)
OneToMany
Species where no ortholog for OTX1 was found in the sources mined by GeneCards:
  • 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
rs1000098505 -- 63,051,245(+) GTTTT(G/T)CAGGT intron-variant
rs1000553781 -- 63,048,373(+) AAAAT(C/G)CGTGC intron-variant, upstream-variant-2KB
rs1000792320 -- 63,052,631(+) CTGGC(C/G)CTGCT intron-variant
rs1001051355 -- 63,054,436(+) GGTGT(C/G)GGTAT intron-variant
rs1001625233 -- 63,053,164(+) TGCAA(A/G)CTTTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1004678 CNV loss 25217958
nsv7313 OTHER inversion 18451855

Variation tolerance for OTX1 Gene

Residual Variation Intolerance Score: 14.1% 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

Human Gene Mutation Database (HGMD)
OTX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTX1

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

Disorders for OTX1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for OTX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 2p16.1-p15 deletion syndrome
  • 2p15-p16.1 microdeletion syndrome
agnathia-otocephaly complex
  • agnathia-holoprosencephaly-situs inversus syndrome
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
2p16.1-p15 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
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. Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina. (PMID: 19414065) Larsen K.B. … ller M. (Int. J. Dev. Neurosci. 2009) 3 4 64
  2. Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. (PMID: 19767753) Eeles R.A. … Easton D.F. (Nat. Genet. 2009) 3 46 64
  3. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PMID: 19018235) Laroche F. … Robel L. (Psychiatr. Genet. 2008) 3 46 64
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for OTX1 Gene

Sources for OTX1 Gene

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