Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
Gene Ontology annotation based on curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Gene Ontology annotation of human sequence-specific DNA binding transcription factors (DbTFs) based on the TFClass database
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
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PAX6 is a DNA-binding transcription factor whose paired-domain function and DNA binding are altered by mutations in the alternative splice region, causing eye anomalies.
"Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies."
Modulation of PAX6 homeodomain function by the paired domain.
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The PAX6 paired domain and homeodomain functionally interact to determine DNA-binding/transcription factor activity in eye and CNS development.
"Modulation of PAX6 homeodomain function by the paired domain."
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.
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Heterozygous PAX6 mutations cause both eye anomalies and glucose intolerance with impaired insulin secretion, linking PAX6 to glucose homeostasis via islet-cell function.
"all of the patients with a PAX6 gene mutation had glucose intolerance characterized by impaired insulin secretion"
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Truncating PAX6 mutations lacking the C-terminal transactivation domain abolish transcriptional activity.
"in agreement with polypeptide truncation and a lack of the carboxyl-terminal transactivation domain in all of the mutated PAX6 proteins, no transcriptional activity was found in the reporter gene analyses"
A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11.
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PAX6 interacts via its C-terminal PST domain with HOMER3, DNCL1 and the E3 ligase TRIM11; C-terminal aniridia mutations disrupt the HOMER3/DNCL1 interactions.
"Three novel PAX6-interacting proteins were identified the post-synaptic density (PSD) protein HOMER3, the dynein subunit DNCL1, and the tripartite motif protein TRIM11"
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PAX6 is a paired-box transcription factor essential for ocular and neural development with a C-terminal PST transactivation domain.
"The PST domain, which encompasses the C-terminal 145 amino acids of PAX6, has been shown to act as a transcriptional activator"
The MH1 domain of Smad3 interacts with Pax6 and represses autoregulation of the Pax6 P1 promoter.
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PAX6 binds R-SMADs and co-SMAD (Smad1, 3, 4, 5); the Smad3 MH1 domain binds the RED subdomain of the PAX6 paired domain and inhibits PAX6 DNA binding.
"the MH1 domain of Smad3 was observed binding the RED sub-domain of the Pax6 paired domain"
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PAX6 autoregulates its own P1 promoter and this is repressed by TGF-beta/Smad signaling.
"represses autoregulation of the Pax6 P1 promoter"
Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone.
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PAX6 is expressed in nucleus and cytoplasm of human SVZ neuroblasts and is proposed to specify neuronal fate.
"Pax-6 immunoreactivity was detectable in the nucleus and the cytoplasm of SVZ cells and colocalised with PSA-NCAM-positive progenitor cells"
Stem cell markers in the human posterior limbus and corneal endothelium of unwounded and wounded corneas.
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PAX6 protein is induced as a differentiation marker in the corneal endothelium and posterior limbus following corneal wounding.
"after wounding ... the differentiation markers Pax-6 and Sox-2 were seen"
Pax6 controls the expression of critical genes involved in pancreatic {alpha} cell differentiation and function.
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PAX6 directly binds and activates promoters of MafB, cMaf and NeuroD1 (and proglucagon/PC2) to control alpha-cell differentiation and function.
"Pax6 directly binds and activates the promoter region of the three genes through specific binding sites"
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Pax6-null mice lack alpha cells and have reduced beta and delta cells, showing PAX6 is required for endocrine pancreas development.
"homozygous mutant mice for Pax6 are characterized by markedly decreased β and δ cells and absent α cells"
Primate-specific RFPL1 gene controls cell-cycle progression through cyclin B1/Cdc2 degradation.
MiR-135b is a direct PAX6 target and specifies human neuroectoderm by inhibiting TGF-β/BMP signaling.
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PAX6 binds active enhancers genome-wide in human neuroectoderm and directly activates miR-135b transcription, driving neural specification.
"MiR-135b is a direct PAX6 target and specifies human neuroectoderm by inhibiting TGF-β/BMP signaling"
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PAX6 is critical for human neuroectoderm specification.
"the TF PAX6 was shown to be critical for human NE specification"
Impact of cytosine methylation on DNA binding specificities of human transcription factors.
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PAX6 sequence-specific double-stranded DNA binding and its modulation by cytosine methylation were measured biochemically.
"Impact of cytosine methylation on DNA binding specificities of human transcription factors"
A reference map of the human binary protein interactome.
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PAX6 protein-protein interactions were captured in a large-scale binary interactome map (HuRI); individual interactions are not separately validated for PAX6 biology.
"A reference map of the human binary protein interactome"
Three novel aniridia mutations in the human PAX6 gene.
Deep research report on PAX6
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PAX6 is a paired-box transcription factor with paired domain (PAI/RED subdomains) and homeodomain that binds promoters/enhancers and acts as activator or repressor; master regulator of eye, brain and pancreatic endocrine development; haploinsufficiency causes aniridia and predisposes to diabetes.
"Sequence-specific DNA-binding transcription factor with dual PD and homeobox domains; binds and regulates promoters/enhancers of developmental and endocrine effector genes, acting as activator/repressor in a context-dependent manner"