Preferred Label : Zinc Finger Protein GLI3;
NCIt synonyms : GLI-Kruppel Family Member 3 Protein; GLI3; Glioma-Associated Oncogene Homolog 3 Protein; GLI3 Protein;
NCIt definition : Zinc finger protein GLI3 (1580 aa, 170 kDa) is encoded by the human GLI3 gene. This
protein is involved in transcriptional regulation, limb development and signal transduction.;
NCIt note : GLI3 Protein is a putative zinc finger DNA-binding transcription factor of the GLI-Kruppel
family. GLI3 is homologous to Drosophila Cubitus interruptus (Ci), which regulates
patched, gooseberry, and decapentaplegic genes. In response to hedgehog signaling,
the full-length cytoplasmic transcriptional activator form of Ci can be cleaved to
a nuclear transcription repressor form. Based on GLI3 mutations and phenotypes, GLI3
shows transcriptional activation or repression, and subcellular localization, similar
to Ci. Cytoplasmic GLI3 activates PTCH gene expression. PKA-dependent processing of
vertebrate GLI3 in the developing limb generates the repressor form, which appears
to be antagonized by sonic hedgehog signaling. Mutations of GLI3 may be responsible
for Greig Cephalopolysyndactyly Syndrome, Pallister-Hall Syndrome, and Postaxial Polydactyly,
suggesting specific roles during development. (from OMIM);
Origin ID : C17410;
UMLS CUI : C0082708;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_has_associated_anatomy
- gene_product_has_biochemical_function
- gene_product_has_chemical_classification
- gene_product_has_structural_domain_or_motif
- gene_product_is_element_in_pathway
- gene_product_plays_role_in_biological_process
