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Aliases for GLI3 Gene

Aliases for GLI3 Gene

  • GLI Family Zinc Finger 3 2 3
  • 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
  • PAPA 3 6
  • PAPB 3 6
  • Greig Cephalopolysyndactyly Syndrome 2
  • Transcriptional Activator GLI3 3
  • GLI3 Full Length Protein 4
  • GLI3 Form Of 190 KDa 4
  • DNA-Binding Protein 2
  • PAP-A 3
  • PAPA1 3
  • PPDIV 3
  • ACLS 3
  • GCPS 3
  • PHS 3

External Ids for GLI3 Gene

Previous Symbols for GLI3 Gene

  • GCPS
  • PHS

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. Among its related pathways are Pathways in cancer and Endochondral Ossification. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is ZIC4.

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

Genomic Location for GLI3 Gene

Start:
41,960,949 bp from pter
End:
42,237,870 bp from pter
Size:
276,922 bases
Orientation:
Minus strand

Genomic View for GLI3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GLI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLI3 Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys773, Lys779, Lys784, and Lys800

Other Protein References for GLI3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GLI3 Gene

Domains for GLI3 Gene

Gene Families for GLI3 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for GLI3 Gene

UniProtKB/Swiss-Prot:

GLI3_HUMAN
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.:
    • P10071
Similarity:
  • Contains 5 C2H2-type zinc fingers.:
    • P10071
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 2118997
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IC --
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 10077605
GO:0005515 protein binding IPI 10806483
genes like me logo Genes that share ontologies with GLI3: view
genes like me logo Genes that share phenotypes with GLI3: view

Animal Models for GLI3 Gene

MGI Knock Outs for GLI3:

miRNA for GLI3 Gene

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

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for GLI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10693759
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 10077605
GO:0005829 cytosol TAS --
GO:0005929 cilium IDA 16254602
genes like me logo Genes that share ontologies with GLI3: view

Pathways for GLI3 Gene

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

Pathways by source for GLI3 Gene

1 R&D Systems pathway for GLI3 Gene
1 Tocris pathway for GLI3 Gene
1 Qiagen pathway for GLI3 Gene

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:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001822 kidney development --
genes like me logo Genes that share ontologies with GLI3: view

Compounds for GLI3 Gene

(1) HMDB Compounds for GLI3 Gene

Compound Synonyms Cas Number PubMed IDs
Zinc
  • Zinc
7440-66-6

(1) Novoseek inferred chemical compound relationships for GLI3 Gene

Compound -log(P) Hits PubMed IDs
zinc 64.9 21
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

Integrated Proteomics: protein expression 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 expressions with GLI3: view

Orthologs for GLI3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLI3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLI3 36
  • 99.64 (n)
  • 99.75 (a)
GLI3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GLI3 37
  • 88 (a)
OneToOne
LOC785371 36
  • 87.82 (n)
  • 88.84 (a)
dog
(Canis familiaris)
Mammalia GLI3 36
  • 86.31 (n)
  • 87.11 (a)
GLI3 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gli3 36
  • 84.77 (n)
  • 86.65 (a)
Gli3 16
Gli3 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLI3 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLI3 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gli3 36
  • 84.51 (n)
  • 86.33 (a)
chicken
(Gallus gallus)
Aves GLI3 36
  • 76.51 (n)
  • 79.63 (a)
GLI3 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLI3 37
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xgli3 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gli3 36
  • 69.29 (n)
  • 71.09 (a)
Str.13493 36
zebrafish
(Danio rerio)
Actinopterygii Dr.27121 36
gli3 36
  • 62.69 (n)
  • 62.25 (a)
gli3 37
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ci 37
  • 27 (a)
OneToMany
lmd 38
  • 54 (a)
ci 38
  • 50 (a)
CG3850 38
  • 56 (a)
worm
(Caenorhabditis elegans)
Secernentea ref-2 37
  • 33 (a)
OneToMany
tra-1 38
  • 53 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11778 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

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 MAF
rs699485 -- 41,998,585(-) AGTAA(C/T)GGATT intron-variant
rs699486 -- 42,000,559(-) AAGCT(C/T)GCTTT intron-variant
rs699487 -- 42,005,702(-) TCCCA(C/T)GTCGG intron-variant
rs699488 -- 42,014,869(-) CTGTT(A/C)ATCTT intron-variant
rs699489 -- 42,016,145(-) ACATA(A/G)GGGCA intron-variant

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

Relevant External Links for GLI3 Gene

HapMap Linkage Disequilibrium report
GLI3
Human Gene Mutation Database (HGMD)
GLI3

Disorders for GLI3 Gene

(5) OMIM Diseases for GLI3 Gene (165240)

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. 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.
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(16) Novoseek inferred disease relationships for GLI3 Gene

Disease -log(P) Hits PubMed IDs
greig cephalopolysyndactyly syndrome 98.4 17
pallister-hall syndrome 97.4 17
postaxial polydactyly, type a 93.7 4
acrocallosal syndrome 88.5 3
polydactyly 87.9 8

Relevant External Links for GLI3

GeneTests
GLI3
GeneReviews
GLI3
Genetic Association Database (GAD)
GLI3
Human Genome Epidemiology (HuGE) Navigator
GLI3
genes like me logo Genes that share disorders with GLI3: view

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
  2. Point mutations in human GLI3 cause Greig syndrome. (PMID: 9302279) Wild A. … Grzeschik K.-H. (Hum. Mol. Genet. 1997) 3 4 23
  3. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome. (PMID: 10441342) Kalff-Suske M. … Grzeschik K.-H. (Hum. Mol. Genet. 1999) 3 4 23
  4. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type- A/B; no phenotype prediction from the position of GLI3 mutations. (PMID: 10441570) Radhakrishna U. … Antonarakis S.E. (Am. J. Hum. Genet. 1999) 3 4 23
  5. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. (PMID: 12414818) Elson E. … Black G.C.M. (J. Med. Genet. 2002) 3 4 23

Products for GLI3 Gene

  • Addgene plasmids for GLI3

Sources for GLI3 Gene

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