NP_000159.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
169,863 Da
NCBI Official Full Name
transcriptional activator GLI3
NCBI Official Synonym Full Names
GLI family zinc finger 3
NCBI Official Synonym Symbols
PHS; ACLS; GCPS; PAPA; PAPB; PAP-A; PAPA1; PPDIV; GLI3FL; GLI3-190 [Similar Products]
NCBI Protein Information
transcriptional activator GLI3; GLI-Kruppel family member GLI3; glioma-associated oncogene family zinc finger 3; oncogene GLI3; zinc finger protein GLI3
UniProt Protein Name
Transcriptional activator GLI3
UniProt Synonym Protein Names
GLI3 form of 190 kDa; GLI3-190; GLI3 full length protein; GLI3FL
UniProt Synonym Gene Names
UniProt Entry Name
GLI3_HUMAN
NCBI Summary for GLI3
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
UniProt Comments for GLI3
GLI3: Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'. Defects in GLI3 are the cause of Greig cephalo-poly- syndactyly syndrome (GCPS). GCPS is an autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism. Defects in GLI3 are a cause of Pallister-Hall syndrome (PHS). PHS is characterized by a wide range of clinical manifestations. It mainly associates central or postaxial polydactyly, syndactyly, and hypothalamic hamartoma. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. It is an autosomal dominant disorder. Defects in GLI3 are a cause of polydactyly postaxial type A1 (PAPA1). A trait characterized by an extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is well formed and articulates with the fifth, or extra, metacarpal/metatarsal, and thus it is usually functional. Defects in GLI3 are a cause of polydactyly postaxial type B polydactyly (PAPB). A trait characterized by an extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is not well formed and is frequently in the form of a skin. Defects in GLI3 are a cause of polydactyly preaxial type 4 (POP4). Polydactyly preaxial type 4 (i.e. polydactyly on the radial/tibial side of the hand/foot) covers a heterogeneous group of entities. In preaxial polydactyly type IV, the thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. Belongs to the GLI C2H2-type zinc-finger protein family.
Protein type: C2H2-type zinc finger protein; Transcription factor
Chromosomal Location of Human Ortholog: 7p13
Cellular Component: nucleoplasm; transcriptional repressor complex; cytoplasm; nuclear speck; Srb-mediator complex; cytosol; nucleus; cilium
Molecular Function: histone acetyltransferase binding; protein binding; metal ion binding; histone deacetylase binding; beta-catenin binding; chromatin binding; transcription factor activity
Biological Process: developmental growth; radial glial cell differentiation in the forebrain; heart development; positive regulation of transcription, DNA-dependent; T cell differentiation in the thymus; anterior/posterior pattern formation; embryonic digestive tract morphogenesis; oligodendrocyte differentiation; lateral ganglionic eminence cell proliferation; embryonic gut development; positive regulation of neuroblast proliferation; transcription, DNA-dependent; optic nerve morphogenesis; negative thymic T cell selection; negative regulation of neuron differentiation; positive regulation of chondrocyte differentiation; camera-type eye morphogenesis; response to estrogen stimulus; positive regulation of transcription from RNA polymerase II promoter; embryonic digit morphogenesis; negative regulation of transcription, DNA-dependent; metanephros development; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification; negative regulation of apoptosis; tongue development; axon guidance; wound healing; forebrain dorsal/ventral pattern formation; negative regulation of transcription from RNA polymerase II promoter; palate development; nose morphogenesis; negative regulation of cell proliferation; melanocyte differentiation; smoothened signaling pathway involved in ventral spinal cord interneuron specification; proximal/distal pattern formation; smoothened signaling pathway; in utero embryonic development; hippocampus development; limb morphogenesis; embryonic skeletal morphogenesis; odontogenesis of dentine-containing teeth; positive regulation of osteoblast differentiation; positive regulation of protein import into nucleus; ureteric bud branching; cerebral cortex radial glia guided migration; negative regulation of smoothened signaling pathway; protein processing; hindgut morphogenesis; positive regulation of alpha-beta T cell differentiation; negative regulation of alpha-beta T cell differentiation; lung development
Disease: Polydactyly, Postaxial, Type A1; Hypothalamic Hamartomas; Pallister-hall Syndrome; Polydactyly, Preaxial Iv; Tracheoesophageal Fistula With Or Without Esophageal Atresia; Greig Cephalopolysyndactyly Syndrome
Research Articles on GLI3
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Products associated with anti-GLI3 antibody
Pathways associated with anti-GLI3 antibody
Diseases associated with anti-GLI3 antibody
Organs/Tissues associated with anti-GLI3 antibody
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