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F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
Protein-coding gene in the species Homo sapiens
GLI3 , ACLS, GCPS, GLI3-190, GLI3FL, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV, GLI family zinc finger 3
OMIM : 165240 ; MGI : 95729 ; HomoloGene : 139 ; GeneCards : GLI3 ; OMA :GLI3 - orthologs
Chromosome 7 (human) [1]
7p14.1
Start
41,960,949 bp [1]
42,264,100 bp [1]
Chromosome 13 (mouse)[2]
13 A1|13 5.43 cM
Start
15,637,820 bp [2]
15,904,611 bp [2]
triceps brachii muscle
glutes
buccal mucosa cell
tail of embryo
ureter
ventricular zone
abdominal wall
primitive streak
hair follicle
metal ion binding
RNA polymerase II cis-regulatory region sequence-specific DNA binding
beta-catenin binding
chromatin binding
protein binding
histone acetyltransferase binding
nucleic acid binding
DNA binding
sequence-specific DNA binding
DNA-binding transcription factor activity, RNA polymerase II-specific
mediator complex binding
transcription repressor complex
nucleus
nuclear speck
cell projection
mediator complex
cilium
axoneme
nucleoplasm
ciliary base
ciliary tip
lateral semicircular canal development
negative regulation of neuron differentiation
T cell differentiation in thymus
tongue development
nose morphogenesis
optic nerve morphogenesis
smoothened signaling pathway involved in ventral spinal cord interneuron specification
anatomical structure formation involved in morphogenesis
oligodendrocyte differentiation
hindgut morphogenesis
spinal cord dorsal/ventral patterning
thymocyte apoptotic process
mammary gland development
limb development
odontogenesis of dentin-containing tooth
positive regulation of chondrocyte differentiation
embryonic digestive tract morphogenesis
inner ear development
metanephros development
melanocyte differentiation
negative regulation of canonical Wnt signaling pathway
negative regulation of cell population proliferation
regulation of apoptotic process
positive regulation of neuroblast proliferation
regulation of transcription, DNA-templated
limb morphogenesis
negative regulation of smoothened signaling pathway
kidney development
lung development
tube development
embryonic organ development
lateral ganglionic eminence cell proliferation
negative regulation of cell differentiation
embryonic digit morphogenesis
negative regulation of alpha-beta T cell differentiation
in utero embryonic development
transcription, DNA-templated
negative thymic T cell selection
positive regulation of transcription, DNA-templated
heart development
central nervous system development
telencephalon development
branching involved in ureteric bud morphogenesis
embryonic limb morphogenesis
neural tube development
positive regulation of protein import into nucleus
smoothened signaling pathway
camera-type eye development
spinal cord motor neuron differentiation
positive regulation of alpha-beta T cell differentiation
lambdoid suture morphogenesis
regulation of bone development
roof of mouth development
proximal/distal pattern formation
anatomical structure development
wound healing
negative regulation of apoptotic process
negative regulation of transcription by RNA polymerase II
response to estrogen
cerebral cortex radial glia-guided migration
positive regulation of osteoblast differentiation
developmental growth
pallium development
mammary gland specification
frontal suture morphogenesis
anterior semicircular canal development
regulation of gene expression
negative regulation of transcription, DNA-templated
dorsal/ventral pattern formation
branching morphogenesis of an epithelial tube
embryonic digestive tract development
subpallium development
sagittal suture morphogenesis
forebrain dorsal/ventral pattern formation
protein processing
axon guidance
brain development
smoothened signaling pathway involved in dorsal/ventral neural tube patterning
forebrain radial glial cell differentiation
regulation of cell population proliferation
smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
layer formation in cerebral cortex
embryonic morphogenesis
artery development
cell differentiation involved in kidney development
regulation of cell differentiation
forebrain development
neuron fate commitment
hippocampus development
camera-type eye morphogenesis
anterior/posterior pattern specification
positive regulation of transcription by RNA polymerase II
transcription by RNA polymerase II
prostate gland development
liver regeneration
Chr 7: 41.96 – 42.26 Mb
Chr 13: 15.64 – 15.9 Mb
[3]
[4]
Zinc finger protein GLI3 is a protein that in humans is encoded by the GLI3 gene .[5] [6]
This gene encodes a protein that 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 (PTCH1 ) gene expression. It is also thought to play a role during embryogenesis .[6]
Role in development [ edit ]
Gli3 is a known transcriptional repressor but may also have a positive transcriptional function.[7] [8] Gli3 represses dHand and Gremlin , which are involved in developing digits .[9] There is evidence that Shh -controlled processing (e.g., cleavage) regulates transcriptional activity of Gli3 similarly to that of Ci .[8] Gli3 mutant mice have many abnormalities including CNS and lung defects and limb polydactyly .[10] [11] [12] [13] [14] In the developing mouse limb bud, Gli3 derepression predominantly regulates Shh target genes.[15]
Disease association [ edit ]
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.[6] DNA copy-number alterations that contribute to increased conversion of the oncogenes Gli1–3 into transcriptional activators by the Hedgehog signaling pathway are included in a genome-wide pattern, which was found to be correlated with an astrocytoma patient's outcome.[16] [17]
There is evidence that the autosomal dominant disorder Greig cephalopolysyndactyly syndrome (GCPS) that affects limb and craniofacial development in humans is caused by a translocations within the GLI3 gene.[18]
Interactions with Gli1 and Gli2 [ edit ]
The independent overexpression Gli1 and Gli2 in mice models to lead to formation of basal cell carcinoma (BCC). Gli1 knockout is shown to lead to similar embryonic malformations as Gli1 overexpressions but not the formation of BCCs. Overexpression of Gli3 in transgenic mice and frogs does not lead to the development of BCC-like tumors and is not thought to play a role in tumor BCC formation.[19]
Gli1 and Gli2 overexpression leads to BCC formation in mouse models and a one step model for tumour formation has been suggested in both cases. This also indicates that Gli1 and/or Gli2 overexpression is vital in BCC formation. Co-overexpression of Gli1 with Gli2 and Gli2 with Gli3 leads to transgenic mice malformations and death, respectively, but not the formation of BCC. This suggests that overexpression of more than one Gli protein is not necessary for BCC formation.
Interactions [ edit ]
GLI3 has been shown to interact with CREBBP [20] SUFU ,[21] ZIC1 ,[22] and ZIC2 .[22]
References [ edit ]
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Ruppert JM, Vogelstein B, Arheden K, Kinzler KW (October 1990). "GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity" . Molecular and Cellular Biology . 10 (10 ): 5408–15. doi :10.1128/mcb.10.10.5408 . PMC 361243 . PMID 2118997 .
^ a b c "Entrez Gene: GLI3 GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)" .
^ Taipale J, Beachy PA (May 2001). "The Hedgehog and Wnt signalling pathways in cancer". Nature . 411 (6835): 349–54. Bibcode :2001Natur.411..349T . doi :10.1038/35077219 . PMID 11357142 . S2CID 4414768 .
^ a b Jacob J, Briscoe J (August 2003). "Gli proteins and the control of spinal-cord patterning" . EMBO Reports . 4 (8 ): 761–5. doi :10.1038/sj.embor.embor896 . PMC 1326336 . PMID 12897799 .
^ te Welscher P, Fernandez-Teran M, Ros MA, Zeller R (February 2002). "Mutual genetic antagonism involving GLI3 and dHAND prepatterns the vertebrate limb bud mesenchyme prior to SHH signaling" . Genes & Development . 16 (4 ): 421–6. doi :10.1101/gad.219202 . PMC 155343 . PMID 11850405 .
^ Rash BG, Grove EA (October 2007). "Patterning the dorsal telencephalon: a role for sonic hedgehog?" . The Journal of Neuroscience . 27 (43 ): 11595–603. doi :10.1523/jneurosci.3204-07.2007 . PMC 6673221 . PMID 17959802 .
^ Franz T (1994). "Extra-toes (Xt ) homozygous mutant mice demonstrate a role for the Gli-3 gene in the development of the forebrain". Acta Anatomica . 150 (1 ): 38–44. doi :10.1159/000147600 . PMID 7976186 .
^ Grove EA, Tole S, Limon J, Yip L, Ragsdale CW (June 1998). "The hem of the embryonic cerebral cortex is defined by the expression of multiple Wnt genes and is compromised in Gli3-deficient mice". Development . 125 (12 ): 2315–25. doi :10.1242/dev.125.12.2315 . PMID 9584130 .
^ Hui CC, Joyner AL (March 1993). "A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene". Nature Genetics . 3 (3 ): 241–6. doi :10.1038/ng0393-241 . PMID 8387379 . S2CID 345712 .
^ Schimmang T, Lemaistre M, Vortkamp A, Rüther U (November 1992). "Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt )". Development . 116 (3 ): 799–804. doi :10.1242/dev.116.3.799 . PMID 1289066 .
^ Lewandowski JP, Du F, Zhang S, Powell MB, Falkenstein KN, Ji H, Vokes SA (Oct 2015). "Spatiotemporal regulation of GLI target genes in the mammalian limb bud" . Dev. Biol . 406 (1 ): 92–103. doi :10.1016/j.ydbio.2015.07.022 . PMC 4587286 . PMID 26238476 .
^ Aiello KA, Ponnapalli SP, Alter O (September 2018). "Mathematically universal and biologically consistent astrocytoma genotype encodes for transformation and predicts survival phenotype" . APL Bioengineering . 2 (3 ): 031909. doi :10.1063/1.5037882 . PMC 6215493 . PMID 30397684 .
^ Aiello KA, Alter O (October 2016). "Platform-Independent Genome-Wide Pattern of DNA Copy-Number Alterations Predicting Astrocytoma Survival and Response to Treatment Revealed by the GSVD Formulated as a Comparative Spectral Decomposition" . PLOS ONE . 11 (10 ): e0164546. Bibcode :2016PLoSO..1164546A . doi :10.1371/journal.pone.0164546 . PMC 5087864 . PMID 27798635 .
^ Böse J, Grotewold L, Rüther U (May 2002). "Pallister-Hall syndrome phenotype in mice mutant for Gli3" . Human Molecular Genetics . 11 (9 ): 1129–35. doi :10.1093/hmg/11.9.1129 . PMID 11978771 .
^ Dahmane N, Lee J, Robins P, Heller P, Ruiz i Altaba A (October 1997). "Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours". Nature . 389 (6653): 876–81. Bibcode :1997Natur.389..876D . doi :10.1038/39918 . PMID 9349822 . S2CID 4424572 .
^ Dai P, Akimaru H, Tanaka Y, Maekawa T, Nakafuku M, Ishii S (March 1999). "Sonic Hedgehog-induced activation of the Gli1 promoter is mediated by GLI3" . The Journal of Biological Chemistry . 274 (12 ): 8143–52. doi :10.1074/jbc.274.12.8143 . PMID 10075717 .
^ Humke EW, Dorn KV, Milenkovic L, Scott MP, Rohatgi R (April 2010). "The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins" . Genes & Development . 24 (7 ): 670–82. doi :10.1101/gad.1902910 . PMC 2849124 . PMID 20360384 .
^ a b Koyabu Y, Nakata K, Mizugishi K, Aruga J, Mikoshiba K (March 2001). "Physical and functional interactions between Zic and Gli proteins" . The Journal of Biological Chemistry . 276 (10 ): 6889–92. doi :10.1074/jbc.C000773200 . PMID 11238441 .
External links [ edit ]
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
4
5
6
7
AP-1
BACH
BATF
BLZF1
C/EBP
CREB
CREM
DBP
DDIT3
GABPA
GCN4
HLF
MAF
NFE
NFIL3
NRL
NRF
XBP1
(1.2) Basic helix-loop-helix (bHLH )
ATOH1
HAND
MESP2
Myogenic regulatory factors
NeuroD
Neurogenins
OLIG
Paraxis
SLC
Twist
Myc
MXD4
TCF4
AHRR
ARNT
CLOCK
HIF
NPAS
PER
SIM
3
9
Pho4
ID
2
3
4
5
6
7
HEY
MAX
MITF
MNT
MLX
MLXIPL
MXI1
Myc
SREBP
USF1
B
C
X
SMAD
2
3
4
5
6
ANK
(1.6) Basic helix-span-helix (bHSH)
β
γ
δ
ε
LXR
PPAR
PXR
RAR
ROR
Rev-ErbA
VDR
II
Ear-2
HNF4
PNR
RXR
Testicular receptor
TLX
Estrogen
Glucocorticoid
Mineralocorticoid
Progesterone
Estrogen related
NOR1
NURR1
SF1
SHP
2
3
4
5
6
MTA
TRPS1
TFIIB
TFIID
TFIIE
TFIIF
1
2
(2.5) Alternating composition
DIDO1
GRLF1
ING
JARID
JMJD1B
2
4
extended Hox: Evx1
Evx2
MEOX1
MEOX2
Homeobox
GBX1
GBX2
MNX1
BARHL2
BARX1
BARX2
BSX
DBX
DLX
EMX
EN
HHEX
HLX
LBX1
LBX2
MSX
NANOG
NKX
NATO
TLX1
TLX2
TLX3
VAX1
VAX2
CRX
CUTL1
FHL
HESX1
HOPX
LMX
NOBOX
TALE
PHF
POU domain
SATB2
ZEB
2
3
4
5
6
7
8
9
PRRX
PROP1
PHOX
RAX
SHOX
SHOX2
VSX1
VSX2
Bicoid
2
3
4
5
FOX proteins
2
4
(3.5) Tryptophan clusters
4
5
EGF
ELK
ERF
ETS
ETV
FLI1
Interferon regulatory factors
MYB
MYBL2
transcriptional enhancer factor
2
3
4
(4 ) β-Scaffold factors with minor groove contacts
RELB
NFAT
2
3
4
5
6
TP63
p73
TBX
MYRF
B
C
D
SRF
TBPL1
HMGB
HMGN
HNF
SOX
SRY
SSRP1
TCF/LEF
TOX
YBX1
CBFA2T3
RUNX1
RUNX2
RUNX3
RUNX1T1
(0) Other transcription factors
HBP1
RBL1
RBL2
EREBP
B3
1B
2
3A
3B
4A
CAP
IFI
MLL
MNDA
NFY
Rho /Sigma
Indian hedgehog
Desert hedgehog
Smoothened
GLI2
GLI3
HHAT
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● T h i s p a g e w a s l a s t e d i t e d o n 1 3 A u g u s t 2 0 2 3 , a t 1 2 : 0 3 ( U T C ) .
● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n .
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