Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GLI3 (GLI family zinc finger 3)

Identity

Other namesACLS
GCPS
PAP-A
PAPA
PAPA1
PAPB
PHS
PPDIV
HGNC (Hugo) GLI3
Location 7p14.1
Location_base_pair Starts at 41967075 and ends at 42243143 bp from pter ( according to hg18-March_2006)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)GLI3   4319
Entrez_Gene (NCBI)GLI3  2737  GLI family zinc finger 3
Cards
GeneCards (Weizmann)GLI3
Ensembl (Hinxton)ENSG00000106571 [Gene_View]  GLI3 [Vega]
AceView (NCBI)GLI3
Genatlas (Paris)GLI3
euGene (Indiana)2737
SOURCE (Stanford)NM_000168
Gene Expression (Array Express) ENSG00000106571
Genomic and cartography
GoldenPath (UCSC)GLI3  -  7p14.1   chr7:41967075-42243143 -  7p14.1   [Description]    (hg18-March_2006)
EnsemblGLI3 - 7p14.1 [CytoView]
Mapping of homologs : NCBIGLI3 [Mapview]
OMIM146510   165240   174200   174700   175700   200990   241800   
Gene and transcription
Gene : Genbank (Entrez)AA330409 AI863961 AK299299 AK308429 BC113616
Reference sequence (RefSeq transcript) :SRSNM_000168
Reference transcript : EntrezNM_000168
RefSeq genomic : SRSAC_000050 AC_000068 AC_000139 NC_000007 NG_008434 NT_007819 NT_079592 NW_001839004 NW_923240
RefSeq genomic : EntrezAC_000050 AC_000068 AC_000139 NC_000007 NG_008434 NT_007819 NT_079592 NW_001839004 NW_923240
Consensus coding sequences : CCDS NCBIGLI3
Cluster EST : UnigeneHs.21509 [ SRS ] Hs.21509 [ NCBI ]
Alternative Splicing : Fast-db (Paris)4273
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP10071 (SRS) P10071 (Expasy) P10071 (Uniprot)
With graphics : InterProP10071
Splice isoforms : VarSplice FASTAP10071(VarSplice FASTA)
Domaine pattern : Prosite (SRS)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domain pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (SRS)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domains : Interpro (EBI)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Related proteins : CluSTrP10071
Domain families : Pfam SRS
Domain families : Pfam Sanger
Domain families : Pfam NCBI
Domain families : Smart EMBLZnF_C2H2 (SM00355)  
Blocks (Seattle)P10071
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01313
Protein Interaction databases
DIP (DOE-UCLA)P10071
IntAct (EBI)P10071
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIGLI3
SNP : GeneSNP UtahGLI3
SNP : HGBaseGLI3
Genetic variants : HAPMAPGLI3
Somatic Mutations in Cancer : COSMICGLI3 
Mutations and Diseases : HGMDGLI3
Hereditary diseases : OMIM146510    165240    174200    174700    175700    200990    241800   
Hereditary diseases : GENETests146510    165240    174200    174700    175700    200990    241800   
Diseases : Genetic AssociationGLI3
General knowledge
Homologs : HomoloGeneGLI3
Homology/Alignments : Family Browser UCSCGLI3
Phylogenetic Trees/Animal Genes : TreeFamGLI3
Chemical/Protein Interactions : CTD2737
Keywords Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  metanephros development  branching involved in ureteric bud morphogenesis  in utero embryonic development  chromatin binding  transcription factor activity  intracellular  nucleus  nucleolus  cytoplasm  cytosol  cilium  smoothened signaling pathway  pattern specification process  hindgut morphogenesis  heart development  beta-catenin binding  zinc ion binding  negative regulation of cell proliferation  anterior/posterior pattern formation  proximal/distal pattern formation  positive regulation of gene-specific transcription from RNA polymerase II promoter  negative regulation of transcription  transcription repressor activity  mediator complex  transcriptional repressor complex  spinal cord dorsal/ventral patterning  pallium development  optic nerve morphogenesis  smoothened signaling pathway involved in ventral spinal cord interneuron specification  smoothened signaling pathway involved in spinal cord motor neuron cell fate specification  forebrain dorsal/ventral pattern formation  neural tube development  lung development  mammary gland development  positive regulation of chondrocyte differentiation  histone acetyltransferase binding  tube development  positive regulation of protein import into nucleus  odontogenesis of dentine-containing tooth  embryonic digit morphogenesis  histone deacetylase binding  regulation of apoptosis  sequence-specific DNA binding  negative regulation of cell differentiation  positive regulation of transcription  metal ion binding  embryonic gut morphogenesis  developmental growth  camera-type eye morphogenesis  anatomical structure formation involved in morphogenesis  neuron fate commitment  embryonic skeletal system morphogenesis  transcription repressor binding  negative regulation of Wnt receptor signaling pathway through beta-catenin  
Keywords Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  metanephros development  branching involved in ureteric bud morphogenesis  in utero embryonic development  chromatin binding  transcription factor activity  intracellular  nucleus  nucleolus  cytoplasm  cytosol  cilium  smoothened signaling pathway  pattern specification process  hindgut morphogenesis  heart development  beta-catenin binding  zinc ion binding  negative regulation of cell proliferation  anterior/posterior pattern formation  proximal/distal pattern formation  positive regulation of gene-specific transcription from RNA polymerase II promoter  negative regulation of transcription  transcription repressor activity  mediator complex  transcriptional repressor complex  spinal cord dorsal/ventral patterning  pallium development  optic nerve morphogenesis  smoothened signaling pathway involved in ventral spinal cord interneuron specification  smoothened signaling pathway involved in spinal cord motor neuron cell fate specification  forebrain dorsal/ventral pattern formation  neural tube development  lung development  mammary gland development  positive regulation of chondrocyte differentiation  histone acetyltransferase binding  tube development  positive regulation of protein import into nucleus  odontogenesis of dentine-containing tooth  embryonic digit morphogenesis  histone deacetylase binding  regulation of apoptosis  sequence-specific DNA binding  negative regulation of cell differentiation  positive regulation of transcription  metal ion binding  embryonic gut morphogenesis  developmental growth  camera-type eye morphogenesis  anatomical structure formation involved in morphogenesis  neuron fate commitment  embryonic skeletal system morphogenesis  transcription repressor binding  negative regulation of Wnt receptor signaling pathway through beta-catenin  
Pathways : BIOCARTASonic Hedgehog (Shh) Pathway [Genes]   
Pathways : KEGGHedgehog signaling pathway
Other databases
Probes
Probes : ImagenesGLI3 Related clones (RZPD - Berlin)
Literature
PubMed61 Pubmed reference(s) in Entrez
PubGeneGLI3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated03-2009Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:30:46 CET 2010
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