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Aliases for GLI3 Gene

Aliases for GLI3 Gene

  • GLI Family Zinc Finger 3 2 3 5
  • Glioma-Associated Oncogene Family Zinc Finger 3 2 3
  • GLI-Kruppel Family Member GLI3 2 3
  • Zinc Finger Protein GLI3 2 3
  • Oncogene GLI3 2 3
  • GLI3-190 3 4
  • GLI3FL 3 4
  • Greig Cephalopolysyndactyly Syndrome 2
  • GLI3 Full Length Protein 4
  • GLI3 Form Of 190 KDa 4
  • DNA-Binding Protein 2
  • PAP-A 3
  • PAPA1 3
  • PPDIV 3
  • ACLS 3
  • PAPA 3
  • PAPB 3
  • GCPS 3
  • PHS 3

External Ids for GLI3 Gene

Previous HGNC Symbols for GLI3 Gene

  • GCPS
  • PHS

Previous GeneCards Identifiers for GLI3 Gene

  • GC07M041650
  • GC07M041744
  • GC07M041776
  • GC07M041970

Summaries for GLI3 Gene

Entrez Gene Summary for GLI3 Gene

  • 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]

GeneCards Summary for GLI3 Gene

GLI3 (GLI Family Zinc Finger 3) is a Protein Coding gene. Diseases associated with GLI3 include Greig Cephalopolysyndactyly Syndrome and Polydactyly, Postaxial, Types A1 And B. Among its related pathways are Endochondral Ossification and cAMP signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is ZIC3.

UniProtKB/Swiss-Prot for GLI3 Gene

  • Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5-GGGTGGTC-3.

Gene Wiki entry for GLI3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLI3 Gene

Genomics for GLI3 Gene

Regulatory Elements for GLI3 Gene

Enhancers for GLI3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GLI3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GLI3 Gene

Chromosome:
7
Start:
41,960,949 bp from pter
End:
42,264,112 bp from pter
Size:
303,164 bases
Orientation:
Minus strand

Genomic View for GLI3 Gene

Genes around GLI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLI3 Gene

Proteins for GLI3 Gene

  • Protein details for GLI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10071-GLI3_HUMAN
    Recommended name:
    Transcriptional activator GLI3
    Protein Accession:
    P10071
    Secondary Accessions:
    • A4D1W1
    • O75219
    • Q17RW4
    • Q75MT0
    • Q75MU9
    • Q9UDT5
    • Q9UJ39

    Protein attributes for GLI3 Gene

    Size:
    1580 amino acids
    Molecular mass:
    169863 Da
    Quaternary structure:
    • The full-length GLI3 form (GLI3FL) interacts with SUFU and this interaction regulates the formation of either repressor or activator forms of GLI3. Its association with SUFU is regulated by Hh signaling and dissociation of the SUFU-GLI3 interaction requires the presence of the ciliary motor KIF3A (By similarity). Interacts with KIF7. The activator form of GLI3 (GLI3A) but not the repressor form (GLI3R) can interact with TRPS1. The phosphorylated form interacts with BTRC. Interacts with ZIC1. Interacts with ZIC3 (via C2H2-type domains 3, 4 and 5); the interaction enhances its transcriptional activity.
    SequenceCaution:
    • Sequence=AAA52564.1; Type=Frameshift; Positions=1549; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GLI3 Gene

neXtProt entry for GLI3 Gene

Proteomics data for GLI3 Gene at MOPED

Post-translational modifications for GLI3 Gene

  • Phosphorylated on multiple sites by protein kinase A (PKA) and phosphorylation by PKA primes further phosphorylation by CK1 and GSK3. Phosphorylated by DYRK2 (in vitro). Phosphorylation is essential for its proteolytic processing.
  • Transcriptional repressor GLI3R, a C-terminally truncated form, is generated from the full-length GLI3 protein (GLI3FL/GLI3-190) through proteolytic processing. This process requires PKA-primed phosphorylation of GLI3, ubiquitination of GLI3 and the presence of BTRC. GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. GLI3R formation leads to its dissociation from SUFU, allowing it to translocate into the nucleus, and repress Hh target genes. When Hh signaling is initiated, SUFU dissociates from GLI3FL and this has two consequences. First, GLI3R production is halted. Second, free GLI3FL translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Phosphorylated in vitro by ULK3.
  • Ubiquitination at Lys 773, Lys 779, Lys 784, and Lys 800
  • Modification sites at PhosphoSitePlus

Other Protein References for GLI3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GLI3 Gene

Domains & Families for GLI3 Gene

Gene Families for GLI3 Gene

Protein Domains for GLI3 Gene

Suggested Antigen Peptide Sequences for GLI3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10071

UniProtKB/Swiss-Prot:

GLI3_HUMAN :
  • Belongs to the GLI C2H2-type zinc-finger protein family.
  • Contains 5 C2H2-type zinc fingers.
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.
Similarity:
  • Contains 5 C2H2-type zinc fingers.
genes like me logo Genes that share domains with GLI3: view

Function for GLI3 Gene

Molecular function for GLI3 Gene

GENATLAS Biochemistry:
GLI-Kruppel family member GLI3 involved in the development of the CNS,craniofacial structure,limbs,lung,trachea and oesophagus,with homology to Drosophila segment polarity gene Cubitus interruptus (CI),more generatly acting both as an activator and a repressor as does CI in sonic hedgehog signaling,binding CREBBP,also binding to GLT1 promoter and inducing its transcription in response to SHH
UniProtKB/Swiss-Prot Function:
Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5-GGGTGGTC-3.

Gene Ontology (GO) - Molecular Function for GLI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035035 histone acetyltransferase binding IPI 10075717
genes like me logo Genes that share ontologies with GLI3: view
genes like me logo Genes that share phenotypes with GLI3: view

Human Phenotype Ontology for GLI3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLI3 Gene

MGI Knock Outs for GLI3:

Animal Model Products

miRNA for GLI3 Gene

Targeted motifs for GLI3 Gene
HOMER Transcription Factor Regulatory Elements motif GLI3
  • Consensus sequence: CGTGGGTGGTCC Submotif: canonical Cell Type: Limb GEO ID: GSE11077

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for GLI3 Gene

Localization for GLI3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLI3 Gene

Nucleus. Cytoplasm. Cell projection, cilium. Note=GLI3FL is localized predominantly in the cytoplasm while GLI3R resides mainly in the nucleus. Ciliary accumulation requires the presence of KIF7 and SMO. Translocation to the nucleus is promoted by interaction with ZIC1.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLI3 Gene COMPARTMENTS Subcellular localization image for GLI3 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GLI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005930 axoneme IEA --
genes like me logo Genes that share ontologies with GLI3: view

Pathways & Interactions for GLI3 Gene

genes like me logo Genes that share pathways with GLI3: view

SIGNOR curated interactions for GLI3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GLI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 10693759
GO:0001656 metanephros development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001822 kidney development IEA --
GO:0002052 positive regulation of neuroblast proliferation IEA --
genes like me logo Genes that share ontologies with GLI3: view

Drugs & Compounds for GLI3 Gene

(1) Drugs for GLI3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2102
genes like me logo Genes that share compounds with GLI3: view

Transcripts for GLI3 Gene

Unigene Clusters for GLI3 Gene

GLI family zinc finger 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GLI3 Gene

No ASD Table

Relevant External Links for GLI3 Gene

GeneLoc Exon Structure for
GLI3
ECgene alternative splicing isoforms for
GLI3

Expression for GLI3 Gene

mRNA expression in normal human tissues for GLI3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GLI3 Gene

This gene is overexpressed in Placenta (61.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GLI3 Gene



SOURCE GeneReport for Unigene cluster for GLI3 Gene Hs.21509

mRNA Expression by UniProt/SwissProt for GLI3 Gene

P10071-GLI3_HUMAN
Tissue specificity: Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.
genes like me logo Genes that share expression patterns with GLI3: view

Protein tissue co-expression partners for GLI3 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for GLI3 Gene

Orthologs for GLI3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLI3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC785371 35
  • 87.82 (n)
  • 88.84 (a)
GLI3 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLI3 35
  • 86.31 (n)
  • 87.11 (a)
GLI3 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gli3 35
  • 84.77 (n)
  • 86.65 (a)
Gli3 16
Gli3 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLI3 35
  • 99.64 (n)
  • 99.75 (a)
GLI3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gli3 35
  • 84.51 (n)
  • 86.33 (a)
oppossum
(Monodelphis domestica)
Mammalia GLI3 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLI3 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLI3 35
  • 76.51 (n)
  • 79.63 (a)
GLI3 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLI3 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gli3 35
  • 69.29 (n)
  • 71.09 (a)
Str.13493 35
African clawed frog
(Xenopus laevis)
Amphibia Xgli3 35
zebrafish
(Danio rerio)
Actinopterygii Dr.27121 35
gli3 35
  • 62.69 (n)
  • 62.25 (a)
gli3 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3850 37
  • 56 (a)
ci 37
  • 50 (a)
lmd 37
  • 54 (a)
ci 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tra-1 37
  • 53 (a)
ref-2 36
  • 33 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11778 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
Species with no ortholog for GLI3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLI3 Gene

ENSEMBL:
Gene Tree for GLI3 (if available)
TreeFam:
Gene Tree for GLI3 (if available)

Paralogs for GLI3 Gene

genes like me logo Genes that share paralogs with GLI3: view

Variants for GLI3 Gene

Sequence variations from dbSNP and Humsavar for GLI3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs121917710 Polydactyly, postaxial A1 (PAPA1), Polydactyly, postaxial B (PAPB) 41,967,848(-) ACAGT(A/G)GGCTC reference, missense
VAR_010052 -
VAR_010053 Greig cephalo-poly-syndactyly syndrome (GCPS)
VAR_010054 Greig cephalo-poly-syndactyly syndrome (GCPS)
VAR_010055 Greig cephalo-poly-syndactyly syndrome (GCPS)

Structural Variations from Database of Genomic Variants (DGV) for GLI3 Gene

Variant ID Type Subtype PubMed ID
nsv5717 CNV Insertion 18451855
nsv887990 CNV Loss 21882294
nsv464440 CNV Loss 19166990
esv275491 CNV Loss 21479260
nsv830976 CNV Gain 17160897
esv272514 CNV Insertion 20981092
esv2658044 CNV Deletion 23128226
dgv7256n71 CNV Gain 21882294

Variation tolerance for GLI3 Gene

Residual Variation Intolerance Score: 0.506% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.04; 90.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLI3 Gene

Human Gene Mutation Database (HGMD)
GLI3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLI3 Gene

Disorders for GLI3 Gene

MalaCards: The human disease database

(37) MalaCards diseases for GLI3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
greig cephalopolysyndactyly syndrome
  • polysyndactyly with peculiars skull shape
polydactyly, postaxial, types a1 and b
  • postaxial polydactyly
pallister-hall syndrome
  • hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
polydactyly, preaxial, type iv
  • preaxial polydactyly type 4
hypothalamic hamartomas, somatic
- elite association - COSMIC cancer census association via MalaCards
Search GLI3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLI3_HUMAN
  • Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]: Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism. {ECO:0000269 PubMed:10441342, ECO:0000269 PubMed:12414818, ECO:0000269 PubMed:12794692, ECO:0000269 PubMed:9302279}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pallister-Hall syndrome (PHS) [MIM:146510]: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. {ECO:0000269 PubMed:10441570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polydactyly preaxial 4 (POP4) [MIM:174700]: Preaxial polydactyly (i.e., polydactyly on the radial/tibial side of the hand/foot) covers a heterogeneous group of entities. In preaxial polydactyly type IV, the thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. {ECO:0000269 PubMed:10441570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polydactyly, postaxial A1 (PAPA1) [MIM:174200]: A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. {ECO:0000269 PubMed:10441570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polydactyly, postaxial B (PAPB) [MIM:174200]: A condition characterized by an extra digit in the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type B the extra digit is not well formed and is frequently in the form of a skin. {ECO:0000269 PubMed:10441570}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLI3

Genetic Association Database (GAD)
GLI3
Human Genome Epidemiology (HuGE) Navigator
GLI3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLI3
genes like me logo Genes that share disorders with GLI3: view

No data available for Genatlas for GLI3 Gene

Publications for GLI3 Gene

  1. GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. (PMID: 2118997) Ruppert J.M. … Kinzler K.W. (Mol. Cell. Biol. 1990) 2 3 4 23 67
  2. Identification of a suppressive mechanism for Hedgehog signaling through a novel interaction of Gli with 14-3-3. (PMID: 19996099) Asaoka Y. … Omata M. (J. Biol. Chem. 2010) 3 23
  3. Birth defects caused by mutations in human GLI3 and mouse Gli3 genes. (PMID: 20201963) Naruse I. … Ishikiriyama S. (Congenit Anom (Kyoto) 2010) 3 23
  4. Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development. (PMID: 20426846) Abbasi A.A. … Grzeschik K.H. (BMC Dev. Biol. 2010) 3 23
  5. Identification of the gene transcription repressor domain of Gli3. (PMID: 19084012) Tsanev R. … Kogerman P. (FEBS Lett. 2009) 3 23

Products for GLI3 Gene

Sources for GLI3 Gene

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