Details for: OTX1

Gene ID: 5013

Symbol: OTX1

Ensembl ID: ENSG00000115507

Description: orthodenticle homeobox 1

Associated with

  • Anterior/posterior pattern specification
    (GO:0009952)
  • Chromatin
    (GO:0000785)
  • Diencephalon morphogenesis
    (GO:0048852)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Inner ear morphogenesis
    (GO:0042472)
  • Metencephalon development
    (GO:0022037)
  • Midbrain development
    (GO:0030901)
  • Nucleus
    (GO:0005634)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.9966
    Cell Significance Index: 10.2800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4674
    Cell Significance Index: 33.0600
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 0.3710
    Cell Significance Index: 2.6700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.3618
    Cell Significance Index: 5.1500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3474
    Cell Significance Index: 153.6000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0836
    Cell Significance Index: 9.7400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0747
    Cell Significance Index: 14.8300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0682
    Cell Significance Index: 128.3500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0406
    Cell Significance Index: 25.7600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.0215
    Cell Significance Index: 2.2400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0182
    Cell Significance Index: 0.2600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0018
    Cell Significance Index: 0.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0037
    Cell Significance Index: -6.8000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0041
    Cell Significance Index: -2.2600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0047
    Cell Significance Index: -7.1600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0060
    Cell Significance Index: -4.4800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0080
    Cell Significance Index: -6.0400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0081
    Cell Significance Index: -0.1100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0095
    Cell Significance Index: -0.1500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0100
    Cell Significance Index: -5.6400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0112
    Cell Significance Index: -3.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0118
    Cell Significance Index: -0.5500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0122
    Cell Significance Index: -4.3600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0127
    Cell Significance Index: -5.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0251
    Cell Significance Index: -5.0300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0256
    Cell Significance Index: -4.6100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0276
    Cell Significance Index: -4.7200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0372
    Cell Significance Index: -4.2600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0392
    Cell Significance Index: -4.8200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0405
    Cell Significance Index: -5.5600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0454
    Cell Significance Index: -5.3600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0490
    Cell Significance Index: -5.0100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0589
    Cell Significance Index: -2.9800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0610
    Cell Significance Index: -7.8800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0701
    Cell Significance Index: -2.8700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0734
    Cell Significance Index: -4.5100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0798
    Cell Significance Index: -5.0300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0821
    Cell Significance Index: -3.7200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0834
    Cell Significance Index: -5.6100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0909
    Cell Significance Index: -5.1000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1091
    Cell Significance Index: -8.1300
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.1114
    Cell Significance Index: -0.8100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1132
    Cell Significance Index: -5.3200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1170
    Cell Significance Index: -3.2700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1238
    Cell Significance Index: -2.1400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1342
    Cell Significance Index: -4.7000
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.1364
    Cell Significance Index: -0.3100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1387
    Cell Significance Index: -5.0900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1397
    Cell Significance Index: -6.1800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1532
    Cell Significance Index: -7.9600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1554
    Cell Significance Index: -4.9500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1627
    Cell Significance Index: -6.1600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1662
    Cell Significance Index: -5.4400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1720
    Cell Significance Index: -3.5000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1745
    Cell Significance Index: -4.3600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1830
    Cell Significance Index: -5.3900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1888
    Cell Significance Index: -5.0400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1972
    Cell Significance Index: -1.1700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1998
    Cell Significance Index: -6.4000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2008
    Cell Significance Index: -5.7300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2036
    Cell Significance Index: -5.9800
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.2060
    Cell Significance Index: -2.8800
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.2067
    Cell Significance Index: -2.6700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2082
    Cell Significance Index: -5.5800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2093
    Cell Significance Index: -5.2200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2109
    Cell Significance Index: -5.2600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2118
    Cell Significance Index: -5.4100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2168
    Cell Significance Index: -5.7000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2197
    Cell Significance Index: -6.3300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2242
    Cell Significance Index: -4.9100
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2280
    Cell Significance Index: -2.6600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2345
    Cell Significance Index: -5.6300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2402
    Cell Significance Index: -6.1200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2439
    Cell Significance Index: -4.1800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2454
    Cell Significance Index: -5.9500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.2482
    Cell Significance Index: -4.0900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2597
    Cell Significance Index: -5.6100
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2688
    Cell Significance Index: -5.6100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2709
    Cell Significance Index: -5.8700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2719
    Cell Significance Index: -5.7700
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.2770
    Cell Significance Index: -3.1700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2773
    Cell Significance Index: -5.1300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2836
    Cell Significance Index: -8.1300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2859
    Cell Significance Index: -5.7400
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.2881
    Cell Significance Index: -5.6700
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.2889
    Cell Significance Index: -5.7600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2893
    Cell Significance Index: -5.7200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2950
    Cell Significance Index: -6.1200
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.2965
    Cell Significance Index: -4.1000
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.2977
    Cell Significance Index: -5.8200
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: -0.2982
    Cell Significance Index: -2.4700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3081
    Cell Significance Index: -6.4500
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.3143
    Cell Significance Index: -3.7400
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.3169
    Cell Significance Index: -1.9900
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.3181
    Cell Significance Index: -4.1600
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: -0.3231
    Cell Significance Index: -2.7800
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.3234
    Cell Significance Index: -2.9400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.3288
    Cell Significance Index: -5.5300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.3305
    Cell Significance Index: -5.6500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3325
    Cell Significance Index: -5.5700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** OTX1 is a transcription factor that belongs to the homeobox gene family, characterized by its ability to regulate gene expression through binding to specific DNA sequences. The gene is highly conserved across species, indicating its fundamental role in developmental processes. OTX1 exhibits dual functions as a transcriptional activator or repressor, depending on the context, allowing it to fine-tune gene expression in response to environmental cues. The gene's expression is tightly regulated by various transcriptional and post-transcriptional mechanisms, ensuring precise control over its downstream targets. **Pathways and Functions:** OTX1 is involved in several critical developmental pathways, including: 1. **Anterior-Posterior Pattern Specification:** OTX1 plays a crucial role in establishing the anterior-posterior axis during embryonic development, regulating the expression of key genes involved in neural patterning and organogenesis. 2. **Chromatin Regulation:** OTX1 interacts with chromatin-modifying enzymes to regulate gene expression, influencing the accessibility of DNA to transcriptional machinery. 3. **Diencephalon Morphogenesis:** OTX1 is essential for the development of the diencephalon, a critical region of the brain involved in sensory processing and motor control. 4. **Inner Ear Morphogenesis:** OTX1 is involved in the development of the inner ear, a complex structure responsible for auditory and vestibular function. OTX1's functions extend beyond developmental processes, as it is also implicated in: 1. **Cellular Differentiation:** OTX1 regulates the expression of genes involved in cellular differentiation, influencing the development of specific cell types, such as GABAergic interneurons. 2. **Tissue Homeostasis:** OTX1 maintains tissue homeostasis by regulating the expression of genes involved in cell proliferation, differentiation, and survival. **Clinical Significance:** Dysregulation of OTX1 has been implicated in various diseases, including: 1. **Neurodevelopmental Disorders:** Mutations in OTX1 have been associated with neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 2. **Cancer:** OTX1 is overexpressed in certain types of cancer, including glioblastoma and pancreatic cancer, suggesting its potential role as a tumor suppressor. 3. **Immune System Dysregulation:** OTX1 is expressed in immune cells and plays a role in regulating immune responses, making it a potential target for immunotherapy. In conclusion, the OTX1 gene is a complex transcription factor that plays a pivotal role in developmental processes and tissue homeostasis. Its dysregulation has been implicated in various diseases, highlighting the need for further research into the molecular mechanisms underlying OTX1's functions and its potential as a therapeutic target.

Genular Protein ID: 944205937

Symbol: OTX1_HUMAN

Name: Homeobox protein OTX1

UniProtKB Accession Codes:

P32242 A6NHA2 B3KTJ4 Q53TG6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8101484

Title: A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo.

PubMed ID: 8101484

DOI: 10.1002/j.1460-2075.1993.tb05935.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19414065

Title: Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina.

PubMed ID: 19414065

DOI: 10.1016/j.ijdevneu.2009.04.004

PubMed ID: 25772364

Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.

PubMed ID: 25772364

DOI: 10.1016/j.celrep.2015.02.033

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

Sequence Information:

  • Length: 354
  • Mass: 37327
  • Checksum: E32C1E47464BDDAA
  • Sequence:
    • MMSYLKQPPY GMNGLGLAGP AMDLLHPSVG YPATPRKQRR ERTTFTRSQL DVLEALFAKT 
RYPDIFMREE VALKINLPES RVQVWFKNRR AKCRQQQQSG SGTKSRPAKK KSSPVRESSG 
SESSGQFTPP AVSSSASSSS SASSSSANPA AAAAAGLGGN PVAAASSLST PAASSIWSPA 
SISPGSAPAS VSVPEPLAAP SNTSCMQRSV AAGAATAAAS YPMSYGQGGS YGQGYPTPSS 
SYFGGVDCSS YLAPMHSHHH PHQLSPMAPS SMAGHHHHHP HAHHPLSQSS GHHHHHHHHH 
HQGYGGSGLA FNSADCLDYK EPGAAAASSA WKLNFNSPDC LDYKDQASWR FQVL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.