Version 5.4
Homo sapiens Gene: GLI3
Summary
InnateDB Gene IDBG-13536.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GLI3
Gene Name GLI family zinc finger 3
Synonyms ACLS; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV
Species Homo sapiens
Ensembl Gene ENSG00000106571
Encoded Proteins
IDBP-238557
GLI family zinc finger 3
IDBP-372943
GLI family zinc finger 3
IDBP-372946
GLI family zinc finger 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:41960950-42237870
Strand Reverse strand
Band p14.1
Transcripts
ENST00000395925 ENSP00000379258
ENST00000448703 ENSP00000406135
ENST00000437480 ENSP00000407963
ENST00000428534
ENST00000479210
ENST00000464291
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 37 [view]
Protein-Protein 30 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 4 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0035035 histone acetyltransferase binding
GO:0042826 histone deacetylase binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001656 metanephros development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001701 in utero embryonic development
GO:0001822 kidney development
GO:0002052 positive regulation of neuroblast proliferation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007224 smoothened signaling pathway
GO:0007389 pattern specification process
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0007442 hindgut morphogenesis
GO:0007507 heart development
GO:0008285 negative regulation of cell proliferation
GO:0009952 anterior/posterior pattern specification
GO:0009953 dorsal/ventral pattern formation
GO:0009954 proximal/distal pattern formation
GO:0010468 regulation of gene expression
GO:0016485 protein processing
GO:0021513 spinal cord dorsal/ventral patterning
GO:0021522 spinal cord motor neuron differentiation
GO:0021537 telencephalon development
GO:0021543 pallium development
GO:0021544 subpallium development
GO:0021631 optic nerve morphogenesis
GO:0021766 hippocampus development
GO:0021775 smoothened signaling pathway involved in ventral spinal cord interneuron specification
GO:0021776 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
GO:0021798 forebrain dorsal/ventral pattern formation
GO:0021801 cerebral cortex radial glia guided migration
GO:0021861 forebrain radial glial cell differentiation
GO:0021915 neural tube development
GO:0022018 lateral ganglionic eminence cell proliferation
GO:0030318 melanocyte differentiation
GO:0030324 lung development
GO:0030326 embryonic limb morphogenesis
GO:0030879 mammary gland development
GO:0030900 forebrain development
GO:0032332 positive regulation of chondrocyte differentiation
GO:0033077 T cell differentiation in thymus
GO:0035108 limb morphogenesis
GO:0035295 tube development
GO:0042060 wound healing
GO:0042127 regulation of cell proliferation
GO:0042307 positive regulation of protein import into nucleus
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042733 embryonic digit morphogenesis
GO:0042981 regulation of apoptotic process
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0043585 nose morphogenesis
GO:0043586 tongue development
GO:0043627 response to estrogen
GO:0045060 negative thymic T cell selection
GO:0045595 regulation of cell differentiation
GO:0045596 negative regulation of cell differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045879 negative regulation of smoothened signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046638 positive regulation of alpha-beta T cell differentiation
GO:0046639 negative regulation of alpha-beta T cell differentiation
GO:0048557 embryonic digestive tract morphogenesis
GO:0048566 embryonic digestive tract development
GO:0048589 developmental growth
GO:0048593 camera-type eye morphogenesis
GO:0048598 embryonic morphogenesis
GO:0048646 anatomical structure formation involved in morphogenesis
GO:0048663 neuron fate commitment
GO:0048704 embryonic skeletal system morphogenesis
GO:0048709 oligodendrocyte differentiation
GO:0048754 branching morphogenesis of an epithelial tube
GO:0048839 inner ear development
GO:0048856 anatomical structure development
GO:0060021 palate development
GO:0060173 limb development
GO:0060364 frontal suture morphogenesis
GO:0060366 lambdoid suture morphogenesis
GO:0060367 sagittal suture morphogenesis
GO:0060594 mammary gland specification
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0060840 artery development
GO:0060873 anterior semicircular canal development
GO:0060875 lateral semicircular canal development
GO:0061005 cell differentiation involved in kidney development
GO:0070242 thymocyte apoptotic process
GO:0090090 negative regulation of canonical Wnt signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005929 cilium
GO:0016592 mediator complex
GO:0016607 nuclear speck
GO:0017053 transcriptional repressor complex
GO:0072372 primary cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021318
View Gene Order
ENSBTAG00000010671
Not yet available
Pathways
NETPATH
NetPath_10
Hedgehog pathway
REACTOME
REACT_228134
Signaling by Hedgehog pathway
REACT_231645
GLI3 is processed to GLI3R by the proteasome pathway
REACT_111102
Signal Transduction pathway
REACT_267634
Hedgehog 'off' state pathway
KEGG
hsa04340
Hedgehog signaling pathway pathway
hsa05217
Basal cell carcinoma pathway
hsa05200
Pathways in cancer pathway
INOH
INOH website
Hedgehog signaling pathway pathway
PID NCI
hedgehog_glipathway
Hedgehog signaling events mediated by Gli proteins
Cross-References
SwissProt P10071
TrEMBL C9J9N4 F8WEV4
UniProt Splice Variant
Entrez Gene 2737
UniGene Hs.21509 Hs.707641
RefSeq NM_000168 XM_005249703 XM_005249704
HUGO HGNC:4319
OMIM 165240
CCDS CCDS5465
HPRD
IMGT
EMBL AC005026 AC005028 AC005158 AC073852 AJ250408 BC113616 BC117168 CH236951 M20674 M57609
GenPept AAA52564 AAI13617 AAI17169 AAP21869 AAS01998 AAS02015 CAB59315 EAL24002
RNA Seq Atlas 2737

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca