Gene: Gli3

Basic information

Tag Content
Uniprot ID Q61602
Entrez ID 14634
Genbank protein ID CAA64543.1
Genbank nucleotide ID NM_008130.2
Ensembl protein ID ENSMUSP00000106137
Ensembl nucleotide ID ENSMUSG00000021318
Gene name Transcriptional activator GLI3
Gene symbol Gli3
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO,CLO
Developmental stage E13.0, E14.0, E13.5, E14.5
Data sources Manually collected
Reference 5962396; 9006072; 6049666; 27802276; 7202526; 5806166;
Functional description 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'.
Sequence
MEAQAHSSTA TERKKAENSI GKCPTRTDVS EKAVASSTTS NEDESPGQIY HRERRNAITM 60
QPQSVQGLNK ISEEPSTSSD ERASLIKKEI HGSLPHLAEP SLPYRGTVFA MDPRNGYMEP 120
HYHPPHLFPA FHPPVPIDAR HHEGRYHYDP SPIPPLHVPS ALSSSPTYPD LPFIRISPHR 180
NPTAASESPF SPPHPYINPY MDYIRSLHSS PSLSMISAAR GLSPTDAPHA GVSPAEYYHQ 240
MALLTGQRSP YADILPSAAT AGAGAIHMEY LHAMDSTRFP SPRLSARPSR KRTLSISPLS 300
DHSFDLQTMI RTSPNSLVTI LNNSRSSSSA SGSYGHLSAS AISPALSFTY PSAPVSLHMH 360
QQILSRQQSL GSAFGHSPPL IHPAPTFPTQ RPIPGIPTVL NPVQVSSGPS ESSQSKPTSE 420
SAVSSTGDPM HNKRSKIKPD EDLPSPGSRG QQEQPEGTTL VKEEADKDES KQEPEVIYET 480
NCHWEGCTRE FDTQDQLVHH INNDHIHGEK KEFVCRWLDC SREQKPFKAQ YMLVVHMRRH 540
TGEKPHKCTF EGCTKAYSRL ENLKTHLRSH TGEKPYVCEH EGCNKAFSNA SDRAKHQNRT 600
HSNEKPYVCK IPGCTKRYTD PSSLRKHVKT VHGPEAHVTK KQRGDMHPRP PPPRDSGSHS 660
QSRSPGRPTQ GAFGEQKELS NTTSKREECL QVKTVKAEKP MTSQPSPGGQ SSCSSQQSPI 720
SNYSNSGLEL PLTDGGSVAD LSAIDETPIM DSTISTATTA LALQARRNPA GTKWMEHIKL 780
ERLKQVNGMF PRLNPILPSK APAVSPLIGN GTQSNNNYSS GGPGTLLPSR SDLSGVDFTV 840
LNTLNRRDSN TSTISSAYLS SRRSSGISPC FSSRRSSEAS QAEGRPQNVS VADSYDPIST 900
DASRRSSEAS QGDGLPSLLS LTPVQQYRLK AKYAAATGGP PPTPLPHMER LSLKTKMALL 960
GEGRDSGVTL PPVHPPRRCS DGGGHTYRGR HLMPHDALAN SVRRASDPVR TVSENMSLAR 1020
VQRFSSLNSF NPPNLPPSVE KRSLVLQNYT RQESSQPRYF QASPCPPSIT ENVALEALTM 1080
DADANLNDED LLPDDVVQYL NSQNQTGYGQ QLQSGISEDS KVAHEPEDLD LAGLPDSHVG 1140
QEYPALEQPC SEGSKTDLPI QWNEVSSGTS DLSSSKLKCG QQRPSAQQPR GFGLYNNMVV 1200
HPHNLWKVGT GPAGGYQTLG ENSSTYNGPE HFAIHSGDGL GTNGNTFHEQ PFKTQQYGSQ 1260
LNRQPLTSSA LDHACGTGIQ GSKLKGNSLQ ENGGLLDFSL SVAPNELAGN TVNGMQTQDQ 1320
MGQGYIAHQL LSGSMQHQGP SRPGQQVLGQ VGATSHINIY QGTESCLPGT QDNSSQPSSM 1380
AAIRGYQPCA SYGGNRRQAM PRGNLTLQQG QLSDMSQSSR VNSIKMEAQG QSQQLCSTVQ 1440
NYSGQFYDQT MGFSQQDRKA GSFSLSDANC LLQGNGTENS ELLSPGANQV TSTVDSFESH 1500
DLEGVQIDFD AIIDDGDHTS LMSGALSPSI IQNLSHSSSR LTTPRASLPF PSLSMGTTNM 1560
AIGDMSSLLT SLAEESKFLA VMQ 1583

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologGLI3483244J9P1Q3Canis lupus familiarisPredictionMore>>
1:1 orthologGLI3102178142A0A452EPR3Capra hircusPredictionMore>>
1:1 orthologGLI32737P10071Homo sapiensPredictionMore>>
1:1 orthologGli314634Q61602CPO,CLOE13.0, E14.0, E13.5, E14.5Mus musculusPublicationMore>>
1:1 orthologGLI3463369H2QUH1Pan troglodytesPredictionMore>>
1:1 orthologGLI3F1SSD9Sus scrofaPredictionMore>>
1:1 orthologGLI3100355047G1SR94Oryctolagus cuniculusPredictionMore>>
1:1 orthologGli3F1M9H1Rattus norvegicusPredictionMore>>
1:1 orthologgli3F1QSH8Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingISO
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingISO
GO:0003682 chromatin bindingIGI
GO:0003700 DNA-binding transcription factor activityISO
GO:0003700 DNA-binding transcription factor activityIDA
GO:0005515 protein bindingIPI
GO:0008013 beta-catenin bindingISO
GO:0035035 histone acetyltransferase bindingISO
GO:0036033 mediator complex bindingISO
GO:0042826 histone deacetylase bindingISO
GO:0043565 sequence-specific DNA bindingIDA
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISO
GO:0001656 metanephros developmentIGI
GO:0001658 branching involved in ureteric bud morphogenesisIGI
GO:0001701 in utero embryonic developmentIMP
GO:0001822 kidney developmentIGI
GO:0002052 positive regulation of neuroblast proliferationIMP
GO:0006355 regulation of transcription, DNA-templatedIMP
GO:0007224 smoothened signaling pathwayIGI
GO:0007389 pattern specification processIGI
GO:0007411 axon guidanceIMP
GO:0007417 central nervous system developmentIGI
GO:0007417 central nervous system developmentIMP
GO:0007420 brain developmentIMP
GO:0007442 hindgut morphogenesisIGI
GO:0007507 heart developmentIGI
GO:0008285 negative regulation of cell population proliferationIGI
GO:0008285 negative regulation of cell population proliferationIMP
GO:0009952 anterior/posterior pattern specificationIMP
GO:0009952 anterior/posterior pattern specificationIGI
GO:0009953 dorsal/ventral pattern formationIMP
GO:0009954 proximal/distal pattern formationIGI
GO:0009954 proximal/distal pattern formationIMP
GO:0010468 regulation of gene expressionIGI
GO:0016485 protein processingIDA
GO:0021513 spinal cord dorsal/ventral patterningIGI
GO:0021522 spinal cord motor neuron differentiationIGI
GO:0021537 telencephalon developmentIMP
GO:0021543 pallium developmentIMP
GO:0021544 subpallium developmentIMP
GO:0021631 optic nerve morphogenesisIMP
GO:0021766 hippocampus developmentIMP
GO:0021775 smoothened signaling pathway involved in ventral spinal cord interneuron specificationIGI
GO:0021776 smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationIGI
GO:0021798 forebrain dorsal/ventral pattern formationIMP
GO:0021801 cerebral cortex radial glia guided migrationIMP
GO:0021819 layer formation in cerebral cortexIMP
GO:0021861 forebrain radial glial cell differentiationIMP
GO:0021915 neural tube developmentIMP
GO:0022018 lateral ganglionic eminence cell proliferationIMP
GO:0030318 melanocyte differentiationIMP
GO:0030324 lung developmentIGI
GO:0030324 lung developmentIMP
GO:0030326 embryonic limb morphogenesisIMP
GO:0030326 embryonic limb morphogenesisIGI
GO:0030850 prostate gland developmentIEA
GO:0030879 mammary gland developmentIMP
GO:0030900 forebrain developmentIMP
GO:0032332 positive regulation of chondrocyte differentiationIMP
GO:0033077 T cell differentiation in thymusIMP
GO:0035108 limb morphogenesisISO
GO:0035108 limb morphogenesisIMP
GO:0035295 tube developmentIGI
GO:0042060 wound healingIEA
GO:0042127 regulation of cell population proliferationIGI
GO:0042307 positive regulation of protein import into nucleusIGI
GO:0042475 odontogenesis of dentin-containing toothIGI
GO:0042733 embryonic digit morphogenesisIMP
GO:0042733 embryonic digit morphogenesisIGI
GO:0042981 regulation of apoptotic processIMP
GO:0043010 camera-type eye developmentIGI
GO:0043066 negative regulation of apoptotic processIMP
GO:0043586 tongue developmentIMP
GO:0043627 response to estrogenIEA
GO:0045060 negative thymic T cell selectionIMP
GO:0045595 regulation of cell differentiationIGI
GO:0045596 negative regulation of cell differentiationIGI
GO:0045665 negative regulation of neuron differentiationIMP
GO:0045669 positive regulation of osteoblast differentiationIGI
GO:0045669 positive regulation of osteoblast differentiationIMP
GO:0045879 negative regulation of smoothened signaling pathwayIMP
GO:0045892 negative regulation of transcription, DNA-templatedISO
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0045892 negative regulation of transcription, DNA-templatedIMP
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045893 positive regulation of transcription, DNA-templatedIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIISO
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0046638 positive regulation of alpha-beta T cell differentiationIMP
GO:0046639 negative regulation of alpha-beta T cell differentiationIMP
GO:0048557 embryonic digestive tract morphogenesisIMP
GO:0048566 embryonic digestive tract developmentIMP
GO:0048589 developmental growthIMP
GO:0048593 camera-type eye morphogenesisIMP
GO:0048598 embryonic morphogenesisIMP
GO:0048646 anatomical structure formation involved in morphogenesisIGI
GO:0048663 neuron fate commitmentIMP
GO:0048704 embryonic skeletal system morphogenesisIGI
GO:0048709 oligodendrocyte differentiationIGI
GO:0048754 branching morphogenesis of an epithelial tubeIMP
GO:0048839 inner ear developmentIGI
GO:0048856 anatomical structure developmentIGI
GO:0060021 roof of mouth developmentIMP
GO:0060173 limb developmentIMP
GO:0060364 frontal suture morphogenesisIMP
GO:0060366 lambdoid suture morphogenesisIMP
GO:0060367 sagittal suture morphogenesisIMP
GO:0060594 mammary gland specificationIGI
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterningIGI
GO:0060840 artery developmentIGI
GO:0060873 anterior semicircular canal developmentIMP
GO:0060875 lateral semicircular canal developmentIMP
GO:0061005 cell differentiation involved in kidney developmentIGI
GO:0070242 thymocyte apoptotic processIMP
GO:0090090 negative regulation of canonical Wnt signaling pathwayISO
GO:0097421 liver regenerationIEA
GO:1903010 regulation of bone developmentIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmIDA
GO:0005829 cytosolISO
GO:0005929 ciliumISO
GO:0005929 ciliumIDA
GO:0005930 axonemeIDA
GO:0016607 nuclear speckIDA
GO:0017053 transcriptional repressor complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-5358351 Signaling by HedgehogIEA
R-MMU-5610785 GLI3 is processed to GLI3R by the proteasomeIEA
R-MMU-5610787 Hedgehog 'off' stateIEA
R-MMU-5632684 Hedgehog 'on' stateIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0010 Activator
KW-0966 Cell projection
KW-0969 Cilium
KW-0963 Cytoplasm
KW-0238 DNA-binding
KW-1017 Isopeptide bond
KW-0479 Metal-binding
KW-0488 Methylation
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat
KW-0678 Repressor
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0832 Ubl conjugation
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR043359 GLI-like
IPR032851 GLI3
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

PROSITE

PROSITE ID PROSITE Term
PS00028 ZINC_FINGER_C2H2_1
PS50157 ZINC_FINGER_C2H2_2

Pfam

Pfam ID Pfam Term
PF00096 zf-C2H2

Protein-protein interaction

Protein-miRNA interaction