General Information of the Molecule (ID: Mol00549)
Name
Paired box protein Pax-6 (PAX6) ,Homo sapiens
Synonyms
Aniridia type II protein; Oculorhombin; AN2
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Molecule Type
Protein
Gene Name
PAX6
Gene ID
5080
Location
chr11:31784779-31817961[-]
Sequence
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY
YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV
SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ
EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP
QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT
SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR
LQ
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Function
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Acts as a transcriptional repressor of NFATC1-mediated gene expression (By similarity).
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Uniprot ID
PAX6_HUMAN
Ensembl ID
ENSG00000007372
HGNC ID
HGNC:8620
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Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Type(s) of Resistant Mechanism of This Molecule
  UAPP: Unusual Activation of Pro-survival Pathway
Drug Resistance Data Categorized by Drug
Approved Drug(s)
1 drug(s) in total
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Temozolomide
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Drug Resistance Data Categorized by Their Corresponding Mechanisms
       Unusual Activation of Pro-survival Pathway (UAPP) Click to Show/Hide
Disease Class: Glioblastoma [1]
Resistant Disease Glioblastoma [ICD-11: 2A00.02]
Resistant Drug Temozolomide
Molecule Alteration Expression
Down-regulation
Experimental Note Revealed Based on the Cell Line Data
Cell Pathway Regulation PI3K/AKT signaling pathway Inhibition hsa04151
In Vitro Model U251 cells Brain Homo sapiens (Human) CVCL_0021
Experiment for
Molecule Alteration
Western blot analysis
Experiment for
Drug Resistance
Transwell assay; Transwell matrix penetration assay; MTT assay; BrdU incorporation assay
Mechanism Description miR223/PAX6 axis regulates glioblastoma stem cell proliferation and the chemo resistance to TMZ via inhibition of PI3k/Akt pathway.
Disease- and Tissue-specific Abundances of This Molecule
ICD Disease Classification 02
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Brain cancer [ICD-11: 2A00]
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Differential expression of molecule in resistant diseases
The Studied Tissue Nervous tissue
The Specified Disease Brain cancer
The Expression Level of Disease Section Compare with the Healthy Individual Tissue p-value: 2.93E-32; Fold-change: 6.49E-01; Z-score: 6.53E-01
Molecule expression in the diseased tissue of patients
Molecule expression in the normal tissue of healthy individuals
Disease-specific Molecule Abundances Click to View the Clearer Original Diagram
The Studied Tissue Brainstem tissue
The Specified Disease Glioma
The Expression Level of Disease Section Compare with the Healthy Individual Tissue p-value: 8.73E-01; Fold-change: 2.78E-02; Z-score: 2.75E-02
Molecule expression in the diseased tissue of patients
Molecule expression in the normal tissue of healthy individuals
Disease-specific Molecule Abundances Click to View the Clearer Original Diagram
The Studied Tissue White matter
The Specified Disease Glioma
The Expression Level of Disease Section Compare with the Healthy Individual Tissue p-value: 8.77E-03; Fold-change: 4.83E-01; Z-score: 6.78E-01
Molecule expression in the diseased tissue of patients
Molecule expression in the normal tissue of healthy individuals
Disease-specific Molecule Abundances Click to View the Clearer Original Diagram
The Studied Tissue Brainstem tissue
The Specified Disease Neuroectodermal tumor
The Expression Level of Disease Section Compare with the Healthy Individual Tissue p-value: 7.06E-03; Fold-change: 8.61E-01; Z-score: 1.89E+00
Molecule expression in the diseased tissue of patients
Molecule expression in the normal tissue of healthy individuals
Disease-specific Molecule Abundances Click to View the Clearer Original Diagram
Tissue-specific Molecule Abundances in Healthy Individuals
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References
Ref 1 MiR-223/PAX6 Axis Regulates Glioblastoma Stem Cell Proliferation and the Chemo Resistance to TMZ via Regulating PI3K/Akt Pathway. J Cell Biochem. 2017 Oct;118(10):3452-3461. doi: 10.1002/jcb.26003. Epub 2017 Jun 6.

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