OTX1
Homeobox protein OTX1
Also known as: OTX1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P32242
- Gene
- OTX1
- Ensembl
- ENSG00000115507
- Chromosome
- 2
- Canonical length
- 354 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
354 residues, UniProt reviewed canonical sequence.
>P32242|OTX1
1 MMSYLKQPPY GMNGLGLAGP AMDLLHPSVG YPATPRKQRR ERTTFTRSQL DVLEALFAKT
61 RYPDIFMREE VALKINLPES RVQVWFKNRR AKCRQQQQSG SGTKSRPAKK KSSPVRESSG
121 SESSGQFTPP AVSSSASSSS SASSSSANPA AAAAAGLGGN PVAAASSLST PAASSIWSPA
181 SISPGSAPAS VSVPEPLAAP SNTSCMQRSV AAGAATAAAS YPMSYGQGGS YGQGYPTPSS
241 SYFGGVDCSS YLAPMHSHHH PHQLSPMAPS SMAGHHHHHP HAHHPLSQSS GHHHHHHHHH
301 HQGYGGSGLA FNSADCLDYK EPGAAAASSA WKLNFNSPDC LDYKDQASWR FQVLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against OTX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- salivary gland: 17 nTPM
- skin: 8.1 nTPM
- cerebral cortex: 2.6 nTPM
- amygdala: 2.5 nTPM
- choroid plexus: 2 nTPM
- basal ganglia: 1.7 nTPM
Single-cell type
- lacrimal acinar cells: 69 nCPM
- conjunctival goblet cells: 39 nCPM
- ocular epithelial cells: 22 nCPM
- respiratory basal cells: 22 nCPM
- respiratory secretory cells: 20 nCPM
- respiratory ionocytes: 13 nCPM
Immune cell
- neutrophil: 9.4 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- choroid plexus: 6.4 nTPM
- thalamus: 5.7 nTPM
- midbrain: 5.4 nTPM
- cerebral cortex: 4.9 nTPM
- amygdala: 4.3 nTPM
- hippocampal formation: 3.8 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.44
- gnomAD pLI
- 0.86
- gnomAD missense Z
- 1.39
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior pattern specification
- inner ear morphogenesis
- metencephalon development
- midbrain development
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- diencephalon morphogenesis
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of OTX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads OTX1 as an antibody target. Whether an autoantibody or antibody against OTX1 could matter depends on whether native OTX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
OTX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label OTX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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