GENERAL INFORMATIONi
Gene namei GLI3
Synonyms ACLS, GCPS, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV
Gene descriptioni GLI family zinc finger 3
Protein classi Disease related genes
Human disease related genes
Transcription factors
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 7
Cytoband p14.1
Chromosome location (bp) 41960949 - 42264100
Number of transcriptsi 10
Ensembl ENSG00000106571 (version 109)
Entrez gene 2737
HGNC HGNC:4319
UniProt P10071 (UniProt - Evidence at protein level)
neXtProt NX_P10071
GeneCards GLI3
Antibodypedia GLI3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i 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'. show less
Molecular function (UniProt)i Activator, DNA-binding, Repressor
Biological process (UniProt)i Transcription, Transcription regulation
Ligand (UniProt)i Metal-binding, Zinc
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
GLI3-201
ENSP00000379258
ENST00000395925
P10071
[Direct mapping] Transcriptional activator GLI3 Transcriptional repressor GLI3R
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001649 [osteoblast differentiation]
GO:0001656 [metanephros development]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001701 [in utero embryonic development]
GO:0001822 [kidney development]
GO:0002052 [positive regulation of neuroblast proliferation]
GO:0002062 [chondrocyte differentiation]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006606 [protein import into nucleus]
GO:0006915 [apoptotic process]
GO:0007224 [smoothened signaling pathway]
GO:0007389 [pattern specification process]
GO:0007405 [neuroblast proliferation]
GO:0007411 [axon guidance]
GO:0007417 [central nervous system development]
GO:0007420 [brain development]
GO:0007442 [hindgut morphogenesis]
GO:0007507 [heart development]
GO:0008013 [beta-catenin binding]
GO:0008283 [cell population proliferation]
GO:0008285 [negative regulation of cell population proliferation]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0009954 [proximal/distal pattern formation]
GO:0010468 [regulation of gene expression]
GO:0016485 [protein processing]
GO:0016607 [nuclear speck]
GO:0017053 [transcription repressor complex]
GO:0021513 [spinal cord dorsal/ventral patterning]
GO:0021522 [spinal cord motor neuron differentiation]
GO:0021537 [telencephalon development]
GO:0021543 [pallium development]
GO:0021544 [subpallium development]
GO:0021631 [optic nerve morphogenesis]
GO:0021766 [hippocampus development]
GO:0021775 [smoothened signaling pathway involved in ventral spinal cord interneuron specification]
GO:0021776 [smoothened signaling pathway involved in spinal cord motor neuron cell fate specification]
GO:0021798 [forebrain dorsal/ventral pattern formation]
GO:0021801 [cerebral cortex radial glia-guided migration]
GO:0021819 [layer formation in cerebral cortex]
GO:0021861 [forebrain radial glial cell differentiation]
GO:0021915 [neural tube development]
GO:0022018 [lateral ganglionic eminence cell proliferation]
GO:0030182 [neuron differentiation]
GO:0030318 [melanocyte differentiation]
GO:0030324 [lung development]
GO:0030326 [embryonic limb morphogenesis]
GO:0030879 [mammary gland development]
GO:0030900 [forebrain development]
GO:0032331 [negative regulation of chondrocyte differentiation]
GO:0032332 [positive regulation of chondrocyte differentiation]
GO:0033077 [T cell differentiation in thymus]
GO:0035035 [histone acetyltransferase binding]
GO:0035108 [limb morphogenesis]
GO:0035295 [tube development]
GO:0036033 [mediator complex binding]
GO:0042127 [regulation of cell population proliferation]
GO:0042307 [positive regulation of protein import into nucleus]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0042733 [embryonic digit morphogenesis]
GO:0042826 [histone deacetylase binding]
GO:0042981 [regulation of apoptotic process]
GO:0042995 [cell projection]
GO:0043010 [camera-type eye development]
GO:0043066 [negative regulation of apoptotic process]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043565 [sequence-specific DNA binding]
GO:0043585 [nose morphogenesis]
GO:0043586 [tongue development]
GO:0045060 [negative thymic T cell selection]
GO:0045595 [regulation of cell differentiation]
GO:0045665 [negative regulation of neuron differentiation]
GO:0045669 [positive regulation of osteoblast differentiation]
GO:0045879 [negative regulation of smoothened signaling pathway]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046632 [alpha-beta T cell differentiation]
GO:0046638 [positive regulation of alpha-beta T cell differentiation]
GO:0046639 [negative regulation of alpha-beta T cell differentiation]
GO:0046872 [metal ion binding]
GO:0048557 [embryonic digestive tract morphogenesis]
GO:0048566 [embryonic digestive tract development]
GO:0048568 [embryonic organ development]
GO:0048589 [developmental growth]
GO:0048593 [camera-type eye morphogenesis]
GO:0048598 [embryonic morphogenesis]
GO:0048646 [anatomical structure formation involved in morphogenesis]
GO:0048663 [neuron fate commitment]
GO:0048702 [embryonic neurocranium morphogenesis]
GO:0048704 [embryonic skeletal system morphogenesis]
GO:0048709 [oligodendrocyte differentiation]
GO:0048754 [branching morphogenesis of an epithelial tube]
GO:0048839 [inner ear development]
GO:0048856 [anatomical structure development]
GO:0060021 [roof of mouth development]
GO:0060173 [limb development]
GO:0060364 [frontal suture morphogenesis]
GO:0060366 [lambdoid suture morphogenesis]
GO:0060367 [sagittal suture morphogenesis]
GO:0060594 [mammary gland specification]
GO:0060831 [smoothened signaling pathway involved in dorsal/ventral neural tube patterning]
GO:0060840 [artery development]
GO:0060873 [anterior semicircular canal development]
GO:0060875 [lateral semicircular canal development]
GO:0061005 [cell differentiation involved in kidney development]
GO:0070242 [thymocyte apoptotic process]
GO:0071625 [vocalization behavior]
GO:0072089 [stem cell proliferation]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0097542 [ciliary tip]
GO:0097546 [ciliary base]
GO:0120223 [larynx morphogenesis]
GO:1901620 [regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning]
GO:1903010 [regulation of bone development]
GO:1990787 [negative regulation of hh target transcription factor activity]
GO:1990788 [GLI-SUFU complex]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000647 [negative regulation of stem cell proliferation]
Show all
 1580 aa
169.9 kDa 		No 0
GLI3-202
ENSP00000503957
ENST00000428534
A0A7I2V4V2
[Direct mapping] Transcriptional activator GLI3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
 63 aa
6.9 kDa 		No 0
GLI3-203
ENSP00000407963
ENST00000437480
F8WEV4
[Direct mapping] Transcriptional activator GLI3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
 96 aa
10.3 kDa 		No 0
GLI3-205
ENSP00000496377
ENST00000479210
A0A2R8YGX0
[Direct mapping] Transcriptional activator GLI3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007224 [smoothened signaling pathway]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043565 [sequence-specific DNA binding]
GO:0046872 [metal ion binding]
GO:0048568 [embryonic organ development]
Show all
 1521 aa
163.4 kDa 		No 0
GLI3-206
ENSP00000495498
ENST00000642432
A0A2R8Y6R3
[Direct mapping] Transcriptional activator GLI3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007224 [smoothened signaling pathway]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0046872 [metal ion binding]
GO:0048568 [embryonic organ development]
Show all
 70 aa
8 kDa 		No 0
GLI3-208
ENSP00000495745
ENST00000647255
A0A2R8Y723
[Direct mapping] Transcriptional activator GLI3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007224 [smoothened signaling pathway]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0046872 [metal ion binding]
GO:0048568 [embryonic organ development]
Show all
 79 aa
8.9 kDa 		No 0
GLI3-209
ENSP00000503986
ENST00000677288
A0A7I2V4X9
[Direct mapping] Transcriptional activator GLI3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007224 [smoothened signaling pathway]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0043565 [sequence-specific DNA binding]
GO:0046872 [metal ion binding]
GO:0048568 [embryonic organ development]
Show all
 1522 aa
163.5 kDa 		No 0
GLI3-210
ENSP00000503743
ENST00000677605
P10071
[Direct mapping] Transcriptional activator GLI3 Transcriptional repressor GLI3R
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005929 [cilium]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007224 [smoothened signaling pathway]
GO:0008013 [beta-catenin binding]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0033077 [T cell differentiation in thymus]
GO:0035035 [histone acetyltransferase binding]
GO:0035108 [limb morphogenesis]
GO:0036033 [mediator complex binding]
GO:0042733 [embryonic digit morphogenesis]
GO:0042826 [histone deacetylase binding]
GO:0042995 [cell projection]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043565 [sequence-specific DNA binding]
GO:0043585 [nose morphogenesis]
GO:0045060 [negative thymic T cell selection]
GO:0045879 [negative regulation of smoothened signaling pathway]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046638 [positive regulation of alpha-beta T cell differentiation]
GO:0046639 [negative regulation of alpha-beta T cell differentiation]
GO:0046872 [metal ion binding]
GO:0048566 [embryonic digestive tract development]
GO:0048568 [embryonic organ development]
GO:0070242 [thymocyte apoptotic process]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0097542 [ciliary tip]
GO:0097546 [ciliary base]
GO:1990787 [negative regulation of hh target transcription factor activity]
GO:1990788 [GLI-SUFU complex]
GO:1990837 [sequence-specific double-stranded DNA binding]
Show all
 1580 aa
169.9 kDa 		No 0
GLI3-212
ENSP00000502957
ENST00000678429
P10071
[Direct mapping] Transcriptional activator GLI3 Transcriptional repressor GLI3R
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Zinc-coordinating DNA-binding domains
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005929 [cilium]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007224 [smoothened signaling pathway]
GO:0008013 [beta-catenin binding]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0033077 [T cell differentiation in thymus]
GO:0035035 [histone acetyltransferase binding]
GO:0035108 [limb morphogenesis]
GO:0036033 [mediator complex binding]
GO:0042733 [embryonic digit morphogenesis]
GO:0042826 [histone deacetylase binding]
GO:0042995 [cell projection]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043565 [sequence-specific DNA binding]
GO:0043585 [nose morphogenesis]
GO:0045060 [negative thymic T cell selection]
GO:0045879 [negative regulation of smoothened signaling pathway]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046638 [positive regulation of alpha-beta T cell differentiation]
GO:0046639 [negative regulation of alpha-beta T cell differentiation]
GO:0046872 [metal ion binding]
GO:0048566 [embryonic digestive tract development]
GO:0048568 [embryonic organ development]
GO:0070242 [thymocyte apoptotic process]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0097542 [ciliary tip]
GO:0097546 [ciliary base]
GO:1990787 [negative regulation of hh target transcription factor activity]
GO:1990788 [GLI-SUFU complex]
GO:1990837 [sequence-specific double-stranded DNA binding]
Show all
 1580 aa
169.9 kDa 		No 0
GLI3-213
ENSP00000503352
ENST00000678978
A0A7I2V3B8
[Direct mapping] Transcriptional activator GLI3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
 48 aa
5.2 kDa 		No 0

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