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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GLI1 Gene

protein-coding   GIFtS: 67
GCID: GC12P057853

GLI Family Zinc Finger 1

(Previous names: glioma-associated oncogene homolog 1 (zinc finger protein),...)
(Previous symbol: GLI)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
GLI Family Zinc Finger 11 2     Glioma-Associated Oncogene Family Zinc Finger 11
GLI1 2 3 5     Glioma-Associated Oncogene 12
Glioma-Associated Oncogene Homolog 1 (Zinc Finger Protein)1 2     Zinc Finger Protein GLI12
Oncogene GLI2 3     Glioma-Associated Oncogene3

External Ids:    HGNC: 43171   Entrez Gene: 27352   Ensembl: ENSG000001110877   OMIM: 1652205   UniProtKB: P081513   

Export aliases for GLI1 gene to outside databases

Previous GC identifers: GC12P056141 GC12P054892


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GLI1 Gene:
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)

GeneCards Summary for GLI1 Gene: 
GLI1 (GLI family zinc finger 1) is a protein-coding gene. Diseases associated with GLI1 include necrobiosis lipoidica, and basal cell carcinoma, and among its related super-pathways are Hedgehog Pathway and Hedgehog signaling pathway. GO annotations related to this gene include chromatin binding and RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MTF1.

UniProtKB/Swiss-Prot: GLI1_HUMAN, P08151
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

summary for GLI1 Gene:
The hedgehog (Hh) signaling pathway is crucial in the development of all known animals. In the embryo, it
regulates morphogenesis of a variety of tissues and organs, in the adult, it controls stem cell
proliferation. There are three human Hh proteins; Sonic hedgehog (Shh), Desert hedgehog (Dhh) and Indian
hedgehog (Ihh). Each is expressed at different times of development and in specific cell types and they are
tightly controlled by highly complex, yet divergent transcriptional enhancers. Hh protein release and
diffusion is controlled by various proteins including Skinny hedgehog (Sit), Dispatched (Disp), Tout-velu
(Ttv) and Hedgehog-interacting protein (Hip). Hh proteins bind to the twelve transmembrane domain protein,
Patched (Ptc). In the absence of Hh proteins, Ptc catalytically inhibits Smo. Hh-Ptc binding results in loss
of Ptc activity and activation of Smo, which transduces the Hh signal to the cytoplasm. This leads to the
activation of the Ci/GLI family of transcription factors, through complex interactions of Costal2 (Cos2),
Fused (Fu) and Suppressor of fu [Su(fu)]. Furthermore, PKA, CK1, GSK-3 and Slimb modulate this signal
transduction pathway. Abberant activation of the Hh pathway has been linked to multiple types of human
cancer, particularly basal cell carcinoma. Disruption of Hh signaling during embryonic development, either
through congenital mutation or maternal teratogen consumption, can lead to severe developmental disorders
such as holoprosencephaly.

Gene Wiki entry for GLI1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GLI1 gene promoter:
         NF-1   Sp1   p53   c-Myb   Nkx2-5   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGLI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GLI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.2-q13.3   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13.2-q13.3

GLI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLI1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P057853:  view genomic region     (about GC identifiers)

Start:
57,853,918 bp from pter      End:
57,866,051 bp from pter
Size:
12,134 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GLI1_HUMAN, P08151 (See protein sequence)
Recommended Name: Zinc finger protein GLI1  
Size: 1106 amino acids; 117904 Da
Subunit: Interacts with KIF7 (By similarity). Interacts with ZIC1; the interaction enhances transcription
activation
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
1 PDB 3D structure from and Proteopedia for GLI1:
2GLI (3D)    
Secondary accessions: D0EUY3 E9PQQ9 Q8TDN9
Alternative splicing: 2 isoforms:  P08151-1   P08151-2   (Undetectable in normal cells but highly expressed in cancer cells)

Explore the universe of human proteins at neXtProt for GLI1: NX_P08151

Explore proteomics data for GLI1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated in vitro by ULK3
  • UniProtKB: Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08151

  • GLI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GLI1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001153517.1  NP_001161081.1  NP_005260.1  

    ENSEMBL proteins: 
     ENSP00000436671   ENSP00000228682   ENSP00000434421   ENSP00000434408   ENSP00000441006  
     ENSP00000437607  

    Human Recombinant Protein Products for GLI1: 
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    OriGene MassSpec for GLI1 
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    GenScript Custom Purified and Recombinant Proteins Services for GLI1
    Novus Biologicals GLI1 Protein
    Novus Biologicals GLI1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GLI1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10806483
    GO:0005737cytoplasm IDA10504446
    GO:0005829cytosol IDA18559511
    GO:0005929cilium ----
    GO:0072372primary cilium IEA--

    GLI1 for ontologies           About GeneDecksing



    GLI1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for GLI1 

    Assay Products for GLI1: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry P08151

    ProtoNet protein and cluster: P08151

    1 Blocks protein domain: IPB007086 C2H2-type zinc finger signature

    UniProtKB/Swiss-Prot: GLI1_HUMAN, P08151
    Similarity: Belongs to the GLI C2H2-type zinc-finger protein family
    Similarity: Contains 5 C2H2-type zinc fingers


    GLI1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLI1_HUMAN, P08151
    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
    Induction: Amplified in glioblastoma cells

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA9118802
    GO:0003682chromatin binding IEA--
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI10564661
    GO:0008017microtubule binding IEA--
         
    GLI1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GLI1:
     Upregulation of Wnt/beta-caten 

         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gli1):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 
     normal  renal/urinary system  reproductive system  respiratory system  tumorigenesis 

    GLI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gli1tm1Alj for GLI1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GLI1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GLI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GLI1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GLI1 

    miRNA
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    miRTarBase miRNAs that target GLI1:
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate GLI1:
    hsa-miR-616
    SwitchGear 3'UTR luciferase reporter plasmidGLI1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): GLI1 (NM_001167609)
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                         Customized lentivirus expression plasmids for stable overexpression of GLI1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLI1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GLI1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    Hedgehog Signaling Pathway0.32
    Hedgehog Pathway0.32
    2Basal cell carcinoma
    Hedgehog signaling pathway0.43
    Basal cell carcinoma0.43
    3Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    4Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    5Hedgehog signaling events mediated by Gli proteins
    Hedgehog signaling events mediated by Gli proteins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GLI1
        Development Hedgehog and PTH signaling pathways in bone and cartilage development


    1 Cell Signaling Technology (CST) Pathway for GLI1
        Wnt / Hedgehog / Notch

    1 Tocris Bioscience Pathway for GLI1
        Hedgehog Pathway

    1 GeneGo (Thomson Reuters) Pathway for GLI1
        Development Hedgehog and PTH signaling pathways in bone and cartilage development

    2 BioSystems Pathways for GLI1
        Hedgehog Signaling Pathway
    Hedgehog signaling events mediated by Gli proteins


    3         Kegg Pathways  (Kegg details for GLI1):
        Hedgehog signaling pathway
    Pathways in cancer
    Basal cell carcinoma


    GLI1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GLI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/56 Interacting proteins for GLI1 (P081511, 2, 3 ENSP000002286824) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITCHQ96J021, 3, ENSP000003639984EBI-308084,EBI-1564678 I2D: score=1 STRING: ENSP00000363998
    YWHAEP622582, 3, ENSP000002643354MINT-8009509 I2D: score=1 STRING: ENSP00000264335
    SUFUQ9UMX11, 3, ENSP000003589184EBI-308084,EBI-740595 I2D: score=3 STRING: ENSP00000358918
    DYRK1AQ136273, ENSP000003819324I2D: score=2 STRING: ENSP00000381932
    SAP18O004223, ENSP000003719734I2D: score=1 STRING: ENSP00000371973
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation IDA12165851
    GO:0007224smoothened signaling pathway TAS11001584
    GO:0007283spermatogenesis IEA--
    GO:0007418ventral midline development IEA--
    GO:0008284positive regulation of cell proliferation IMP12165851

    GLI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GLI1 for compounds           About GeneDecksing

    EMD Millipore small molecules for GLI1:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for GLI1

    Compounds for GLI1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CyclopamineInhibitor of Hedgehog (Hh) signaling[4449-51-8]
    AY 9944 dihydrochlorideInhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase[366-93-8]
    Ciliobrevin AHedgehog (Hh) pathway antagonist; inhibits ciliogenesis[302803-72-1]
    SANT-1Inhibitor of hedgehog (Hh) signaling; antagonizes smoothened activity[304909-07-7]
    20(S)-HydroxycholesterolAllosteric activator of Hedgehog (Hh) signaling; induces Smo accumulation[516-72-3]

    6 Novoseek inferred chemical compound relationships for GLI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclopamine 94.4 22 19203449 (2), 16616798 (2), 17200206 (2), 19120265 (1) (see all 16)
    zinc 55.6 29 8364225 (3), 2118997 (1), 9122207 (1), 18298960 (1) (see all 22)
    actb 50.9 2 15111311 (1), 15555571 (1)
    glucose 1.46 1 16341386 (1)
    phosphatidylinositol 0 1 16880536 (1)
    pd 98,059 0 2 16424016 (1), 17353198 (1)

    Search CenterWatch for drugs/clinical trials and news about GLI1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GLI1 gene (3 alternative transcripts): 
    NM_001160045.1  NM_001167609.1  NM_005269.2  

    Unigene Cluster for GLI1:

    GLI family zinc finger 1
    Hs.632702  [show with all ESTs]
    Unigene Representative Sequence: NM_005269
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532291 ENST00000228682(uc009zpp.2 uc001snx.3 uc021qzi.1)
    ENST00000528432 ENST00000530789(uc009zpr.1) ENST00000528467 ENST00000527742
    ENST00000546141 ENST00000543426(uc009zpq.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate GLI1:
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB239135.1 AB239328.1 AK297899.1 BC013000.2 GQ890670.2 X07384.1 

    5 DOTS entries:

    DT.40106320  DT.101958419  DT.121187597  DT.75125683  DT.100778191 

    24/45 AceView cDNA sequences (see all 45):

    BC013000 NM_005269 AI373071 X07384 BE297073 BQ642167 BE296256 BM719407 
    BG826811 BV198829 BG338339 BF309357 BG413394 BM904427 BG826489 CA432143 
    BX106497 BF204861 BX100365 BE298258 BI113880 AI971494 BM684238 BF204913 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GLI1 expression in normal human tissues (normalized intensities)      GLI1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTGTCTTAC
    GLI1 Expression
    About this image


    GLI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Meso-diencephalic Dopaminergic Precursor Cells Diencephalic Ventricular Zone
             Pons
             Olfactory Bulb   
     
     Bone (Muscoskeletal System)    fully expand to see all 16 entries
             Immature Endochondral Osteoblasts Stylopod Periosteum
             Mandibular Condyle
     
     Somite (Muscoskeletal System)    fully expand to see all 12 entries
             Myoblasts Lumbar Primary Epaxial Myotome
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 12 entries
             Myoblasts Lumbar Primary Epaxial Myotome
     
     Neural Tube (Nervous System)    fully expand to see all 9 entries
             Meso-diencephalic Dopaminergic Precursor Cells Diencephalic Ventricular Zone
             Primitive Spinal Cord

    See GLI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GLI1

    SOURCE GeneReport for Unigene cluster: Hs.632702

    UniProtKB/Swiss-Prot: GLI1_HUMAN, P08151
    Tissue specificity: Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in
    the cerebellum, optic nerve and olfactory tract

        SABiosciences Expression via Pathway-Focused PCR Arrays including GLI1 (see all 7): 
              Osteogenesis in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat
              Breast Cancer in human mouse rat
              Stem Cell Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GLI1 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gli11 , 5 GLI-Kruppel family member GLI11, 5 84.03(n)1
    86.05(a)1
      10 (74.50 cM)5
    146321  NM_010296.21  NP_034426.21 
     1273298825 
    chicken
    (Gallus gallus)
    Aves GLI11 GLI family zinc finger 1 59.23(n)
    53.39(a)
      396045  XM_413682.2  XP_413682.2 
    lizard
    (Anolis carolinensis)
    Reptilia GLI16
    Uncharacterized protein
    36(a)
    1 ↔ 1
    GL343212.1(667292-841801)
    zebrafish
    (Danio rerio)
    Actinopterygii AY173030.12   -- 76.78(n)   352930  AY173030.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ci6
    cubitus interruptus
    17(a)
    1 → many
    4(68336-77667)


    ENSEMBL Gene Tree for GLI1 (if available)
    TreeFam Gene Tree for GLI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GLI1 gene
    MTF12  ZIC32  ZNF4102  ZNF762  ZIC22  ZIC12  GLIS22  GLI22  
    ZIC42  GLIS12  ZNF1432  GLIS32  ZIC52  GLI32  
    18/35 SIMAP similar genes for GLI1 using alignment to 5 protein entries:     GLI1_HUMAN (see all proteins) (see all similar genes):
    DKFZp686N0199    ZIC4    DKFZp686O1631    HZF16    ZNF    ZNF78L1
    GLIS3    KLF1    ZFS-5    ZSCAN21    smap-7    GTF3A
    ZNF808    kr-znf3    DKFZp434J0650    DKFZp666C237    GLI2    ZNF22

    GLI1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/391 SNPs in GLI1 are shown (see all 391)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355584
    A breast cancer sample4--see VAR_0355582 T I mis40--------
    VAR_0355594
    A breast cancer sample4--see VAR_0355592 E Q mis40--------
    VAR_0355574
    A breast cancer sample4--see VAR_0355572 P A mis40--------
    VAR_0151144
    ----see VAR_0151142 D A mis40--------
    rs557094051,2
    --57686292(+) AGCGAG/TTCTCC 3 -- us2k10--------
    rs1508878881,2
    --57686335(+) GCCTGC/TGCCAC 3 -- us2k10--------
    rs1497070391,2
    C--57686383(+) GTTTC-/AACCAT 3 -- us2k10--------
    rs1392967031,2
    --57686467(+) CAGGTC/GTGAGC 3 -- us2k10--------
    rs1842346691,2
    --57686531(+) AGACTC/GACTGG 3 -- us2k10--------
    rs1443472351,2
    --57686612(+) CCCAGC/GTACTT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for GLI1 (57853918 - 57866051 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GLI1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv469411CNV Loss19166990
    nsv899119CNV Loss21882294
    nsv899117CNV Loss21882294
    nsv899118CNV Gain21882294
    nsv8974CNV Gain18304495
    nsv428283CNV Gain18775914
    dgv513e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): GLI1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 165220    OMIM disorders: --

    20/71 diseases for GLI1 (see all 71):    About MalaCards
    necrobiosis lipoidica    basal cell carcinoma    granuloma annulare    anal canal carcinoma
    plexiform neurofibroma    splenic marginal zone lymphoma    embryonal rhabdomyosarcoma    pallister-hall syndrome
    chondroma    neurofibroma    alk-positive anaplastic large cell lymphoma    ventricular septal defect
    vacterl association    holoprosencephaly    nevoid basal cell carcinoma syndrome    developmental disabilities
    ring chromosomes    medulloblastoma    neuroendocrine carcinoma    malignant glioma

    7 diseases from the University of Copenhagen DISEASES database for GLI1:
    Basal cell carcinoma     Medulloblastoma     Nevoid basal cell carcinoma syndrome     Polydactyly
    Pancreatic cancer     Malignant glioma     Rhabdomyosarcoma

    GLI1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/34 Novoseek inferred disease relationships for GLI1 gene (see all 34)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma basal cell 78.4 30 10504446 (6), 19948058 (4), 18754037 (1), 12235001 (1) (see all 13)
    medulloblastoma 73.3 31 15806168 (5), 18924150 (4), 17200206 (3), 20081843 (1) (see all 8)
    pallister-hall syndrome 66.8 1 12017244 (1)
    rhabdomyosarcoma 51.2 7 15024701 (1), 20152358 (1), 8221695 (1), 19454362 (1) (see all 5)
    tumors 50.6 81 17565866 (4), 18381430 (3), 19088834 (3), 16421275 (2) (see all 42)
    cancer 48.7 27 10630638 (3), 16855373 (2), 17638910 (1), 19930158 (1) (see all 20)
    pancreatic cancer 45.1 11 19736394 (5), 18410405 (4), 17332349 (1)
    odontogenic tumors 43.8 8 16376138 (3), 15128061 (2), 19082818 (1)
    glioblastoma 43.1 6 7654443 (1), 8586464 (1), 19706761 (1), 1825351 (1) (see all 6)
    gastric cancer 40.8 6 15905200 (2), 19930158 (1), 16258256 (1), 17035233 (1) (see all 5)

    Genetic Association Database (GAD): GLI1
    Human Genome Epidemiology (HuGE) Navigator: GLI1 (5 documents)

    Export disorders for GLI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GLI1 gene, integrated from 9 sources (see all 353):
    (articles sorted by number of sources associating them with GLI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of germline GLI1 variation implicates hedgehog signalling in the regulation of intestinal inflammatory pathways. (PubMed id 19071955)1, 4, 9 Lees C.W....Satsangi J. (2008)
    2. A novel splice variant of GLI1 that promotes glioblastoma cell migration and invasion. (PubMed id 19706761)1, 2, 9 Lo H.W.... Ali-Osman F. (2009)
    3. GLI1 genotypes do not predict basal cell carcinoma ri sk: a case control study. (PubMed id 19948058)1, 4, 9 Watson A....Walterhouse D.O. (2009)
    4. Physical and functional interactions between Zic and Gli proteins. (PubMed id 11238441)1, 2, 9 Koyabu Y....Mikoshiba K. (2001)
    5. Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. (PubMed id 20081843)1, 2, 9 Canettieri G....Gulino A. (2010)
    6. Identification of a novel serine/threonine kinase ULK 3 as a positive regulator of Hedgehog pathway. (PubMed id 19878745)1, 2 Maloverjan A....Osterlund T. (2010)
    7. Association of the GLI gene with ventricular septal defect after the susceptibility gene being narrowed to 3.56 cM in 12q13. (PubMed id 16537020)1, 4 Qiu G.R....Sun K.L. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Gli regulation by the opposing activities of fused and suppressor of fused. (PubMed id 10806483)1, 2 Murone M.... de Sauvage F.J. (2000)
    10. Identification of polymorphic variants of the GLI1 oncogene. (PubMed id 10951255)1, 2 Wang X.Q.... Rothnagel J.A. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2735 HGNC: 4317 AceView: GLI Ensembl:ENSG00000111087 euGenes: HUgn2735
    ECgene: GLI1 Kegg: 2735 H-InvDB: GLI1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GLI1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GLI1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GLI1 gene:
    Search GeneIP for patents involving GLI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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