Human Gene GLI1 (ENST00000228682.7) from GENCODE V44
Description: Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. (from RefSeq NM_005269) RefSeq Summary (NM_005269): This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. Gencode Transcript: ENST00000228682.7 Gencode Gene: ENSG00000111087.10 Transcript (Including UTRs) Position: hg38 chr12:57,459,785-57,472,268 Size: 12,484 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr12:57,463,692-57,472,061 Size: 8,370 Coding Exon Count: 11
ID:GLI1_HUMAN DESCRIPTION: RecName: Full=Zinc finger protein GLI1; AltName: Full=Glioma-associated oncogene; AltName: Full=Oncogene GLI; 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. SUBUNIT: Interacts with KIF7 (By similarity). Interacts with ZIC1; the interaction enhances transcription activation. INTERACTION: Q96J02:ITCH; NbExp=4; IntAct=EBI-308084, EBI-1564678; Q9QZS3-2:Numb (xeno); NbExp=4; IntAct=EBI-308084, EBI-3896014; P23443:RPS6KB1; NbExp=4; IntAct=EBI-308084, EBI-1775921; P23443-2:RPS6KB1; NbExp=2; IntAct=EBI-308084, EBI-6093204; Q9UMX1:SUFU; NbExp=5; IntAct=EBI-308084, EBI-740595; Q9UMX1-1:SUFU; NbExp=2; IntAct=EBI-308084, EBI-740615; Q9UMX1-2:SUFU; NbExp=4; IntAct=EBI-308084, EBI-740621; P46684:Zic1 (xeno); NbExp=2; IntAct=EBI-308084, EBI-308006; SUBCELLULAR LOCATION: 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. TISSUE SPECIFICITY: Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract. INDUCTION: Amplified in glioblastoma cells. PTM: Phosphorylated in vitro by ULK3. PTM: Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1. SIMILARITY: Belongs to the GLI C2H2-type zinc-finger protein family. SIMILARITY: Contains 5 C2H2-type zinc fingers. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GLIID310ch12q13.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08151
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0003682 chromatin binding GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0005515 protein binding GO:0008017 microtubule binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding GO:0046872 metal ion binding
Biological Process: GO:0001649 osteoblast differentiation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007224 smoothened signaling pathway GO:0007275 multicellular organism development GO:0007283 spermatogenesis GO:0007418 ventral midline development GO:0008284 positive regulation of cell proliferation GO:0008589 regulation of smoothened signaling pathway GO:0009611 response to wounding 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:0030154 cell differentiation GO:0030324 lung development GO:0030335 positive regulation of cell migration GO:0030850 prostate gland development GO:0045667 regulation of osteoblast differentiation 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:0060045 positive regulation of cardiac muscle cell proliferation GO:0060070 canonical Wnt signaling pathway GO:0090090 negative regulation of canonical Wnt signaling pathway GO:0097421 liver regeneration GO:1902808 positive regulation of cell cycle G1/S phase transition GO:2000345 regulation of hepatocyte proliferation
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