Homo sapiens Protein: GLI1
Summary
InnateDB Protein IDBP-42579.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GLI1
Protein Name GLI family zinc finger 1
Synonyms GLI;
Species Homo sapiens
Ensembl Protein ENSP00000228682
InnateDB Gene IDBG-42577 (GLI1)
Protein Structure
UniProt Annotation
Function Acts as a transcriptional activator. May regulate the transcription of specific genes during normal development. May play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling and thus cell proliferation and differentiation. {ECO:0000269PubMed:10806483, ECO:0000269PubMed:11238441}.
Subcellular Localization Cytoplasm. Nucleus. Note=Tethered in the cytoplasm by binding to SUFU. Activation and translocation to the nucleus is promoted by interaction with STK36. Phosphorylation by ULK3 may promote nuclear localization. Translocation to the nucleus is promoted by interaction with ZIC1.
Disease Associations
Tissue Specificity Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract. {ECO:0000269PubMed:19878745}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 41 [view]
Protein-Protein 32 [view]
Protein-DNA 5 [view]
Protein-RNA 0
DNA-DNA 4 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
Biological Process
GO:0001649 osteoblast differentiation
GO:0006366 transcription from RNA polymerase II promoter
GO:0007224 smoothened signaling pathway
GO:0007283 spermatogenesis
GO:0007418 ventral midline development
GO:0008284 positive regulation of cell proliferation
GO:0008589 regulation of smoothened signaling pathway
GO:0009913 epidermal cell differentiation
GO:0009953 dorsal/ventral pattern formation
GO:0009954 proximal/distal pattern formation
GO:0021696 cerebellar cortex morphogenesis
GO:0021938 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation
GO:0021983 pituitary gland development
GO:0030324 lung development
GO:0045087 innate immune response (InnateDB)
GO:0045740 positive regulation of DNA replication
GO:0045880 positive regulation of smoothened signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048546 digestive tract morphogenesis
GO:0060032 notochord regression
GO:0090090 negative regulation of canonical Wnt signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005929 cilium
GO:0043231 intracellular membrane-bounded organelle
GO:0072372 primary cilium
Protein Structure and Domains
PDB ID
InterPro IPR007087 Zinc finger, C2H2
IPR015880 Zinc finger, C2H2-like
PFAM PF00096
PRINTS
PIRSF
SMART SM00355
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P08151
PhosphoSite PhosphoSite-P08151
TrEMBL E9PQQ1
UniProt Splice Variant
Entrez Gene 2735
UniGene Hs.632702
RefSeq NP_005260
HUGO HGNC:4317
OMIM 165220
CCDS CCDS8940
HPRD 01311
IMGT
EMBL AB239135 AC022506 AF316573 BC013000 GQ890670 X07384
GenPept AAH13000 AAM13391 ACX35434 BAG16751 CAA30297