Gene: GLI3

Basic information

Tag Content
Uniprot ID P10071; A4D1W1; O75219; Q17RW4; Q75MT0; Q75MU9; Q9UDT5; Q9UJ39;
Entrez ID 2737
Genbank protein ID EAL24002.1; CAB59315.1; AAA52564.1; AAI17169.1; AAI13617.1; AAP21869.1; AAS01998.1; AAS02015.1;
Genbank nucleotide ID NM_000168.5
Ensembl protein ID ENSP00000379258
Ensembl nucleotide ID ENSG00000106571
Gene name Transcriptional activator GLI3
Gene symbol GLI3
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
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
MEAQSHSSTT TEKKKVENSI VKCSTRTDVS EKAVASSTTS NEDESPGQTY HRERRNAITM 60
QPQNVQGLSK VSEEPSTSSD ERASLIKKEI HGSLPHVAEP SVPYRGTVFA MDPRNGYMEP 120
HYHPPHLFPA FHPPVPIDAR HHEGRYHYDP SPIPPLHMTS ALSSSPTYPD LPFIRISPHR 180
NPTAASESPF SPPHPYINPY MDYIRSLHSS PSLSMISATR GLSPTDAPHA GVSPAEYYHQ 240
MALLTGQRSP YADIIPSAAT AGTGAIHMEY LHAMDSTRFS SPRLSARPSR KRTLSISPLS 300
DHSFDLQTMI RTSPNSLVTI LNNSRSSSSA SGSYGHLSAS AISPALSFTY SSAPVSLHMH 360
QQILSRQQSL GSAFGHSPPL IHPAPTFPTQ RPIPGIPTVL NPVQVSSGPS ESSQNKPTSE 420
SAVSSTGDPM HNKRSKIKPD EDLPSPGARG QQEQPEGTTL VKEEGDKDES KQEPEVIYET 480
NCHWEGCARE FDTQEQLVHH INNDHIHGEK KEFVCRWLDC SREQKPFKAQ YMLVVHMRRH 540
TGEKPHKCTF EGCTKAYSRL ENLKTHLRSH TGEKPYVCEH EGCNKAFSNA SDRAKHQNRT 600
HSNEKPYVCK IPGCTKRYTD PSSLRKHVKT VHGPEAHVTK KQRGDIHPRP PPPRDSGSHS 660
QSRSPGRPTQ GALGEQQDLS NTTSKREECL QVKTVKAEKP MTSQPSPGGQ SSCSSQQSPI 720
SNYSNSGLEL PLTDGGSIGD LSAIDETPIM DSTISTATTA LALQARRNPA GTKWMEHVKL 780
ERLKQVNGMF PRLNPILPPK APAVSPLIGN GTQSNNTCSL GGPMTLLPGR SDLSGVDVTM 840
LNMLNRRDSS ASTISSAYLS SRRSSGISPC FSSRRSSEAS QAEGRPQNVS VADSYDPIST 900
DASRRSSEAS QSDGLPSLLS LTPAQQYRLK AKYAAATGGP PPTPLPNMER MSLKTRLALL 960
GDALEPGVAL PPVHAPRRCS DGGAHGYGRR HLQPHDAPGH GVRRASDPVR TGSEGLALPR 1020
VPRFSSLSSC NPPAMATSAE KRSLVLQNYT RPEGGQSRNF HSSPCPPSIT ENVTLESLTM 1080
DADANLNDED FLPDDVVQYL NSQNQAGYEQ HFPSALPDDS KVPHGPGDFD APGLPDSHAG 1140
QQFHALEQPC PEGSKTDLPI QWNEVSSGSA DLSSSKLKCG PRPAVPQTRA FGFCNGMVVH 1200
PQNPLRSGPA GGYQTLGENS NPYGGPEHLM LHNSPGSGTS GNAFHEQPCK APQYGNCLNR 1260
QPVAPGALDG ACGAGIQASK LKSTPMQGSG GQLNFGLPVA PNESAGSMVN GMQNQDPVGQ 1320
GYLAHQLLGD SMQHPGAGRP GQQMLGQISA TSHINIYQGP ESCLPGAHGM GSQPSSLAVV 1380
RGYQPCASFG GSRRQAMPRD SLALQSGQLS DTSQTCRVNG IKMEMKGQPH PLCSNLQNYS 1440
GQFYDQTVGF SQQDTKAGSF SISDASCLLQ GTSAKNSELL SPGANQVTST VDSLDSHDLE 1500
GVQIDFDAII DDGDHSSLMS GALSPSIIQN LSHSSSRLTT PRASLPFPAL SMSTTNMAIG 1560
DMSSLLTSLA EESKFLAVMQ

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 in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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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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Disease or phenotype associated information

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

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0001656 metanephros developmentIEA
GO:0001658 branching involved in ureteric bud morphogenesisIEA
GO:0001701 in utero embryonic developmentIEA
GO:0002052 positive regulation of neuroblast proliferationIEA
GO:0007224 smoothened signaling pathwayTAS
GO:0007411 axon guidanceIEA
GO:0007442 hindgut morphogenesisIEA
GO:0007507 heart developmentIEA
GO:0008285 negative regulation of cell population proliferationIEA
GO:0009952 anterior/posterior pattern specificationIEA
GO:0009954 proximal/distal pattern formationIEA
GO:0016485 protein processingIEA
GO:0021631 optic nerve morphogenesisIEA
GO:0021766 hippocampus developmentIEA
GO:0021775 smoothened signaling pathway involved in ventral spinal cord interneuron specificationIEA
GO:0021776 smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationIEA
GO:0021798 forebrain dorsal/ventral pattern formationIEA
GO:0021819 layer formation in cerebral cortexIEA
GO:0021861 forebrain radial glial cell differentiationIEA
GO:0022018 lateral ganglionic eminence cell proliferationIEA
GO:0030318 melanocyte differentiationIEA
GO:0030324 lung developmentIEA
GO:0030850 prostate gland developmentIEA
GO:0032332 positive regulation of chondrocyte differentiationIEA
GO:0033077 T cell differentiation in thymusISS
GO:0035108 limb morphogenesisIMP
GO:0042060 wound healingIEA
GO:0042307 positive regulation of protein import into nucleusIEA
GO:0042475 odontogenesis of dentin-containing toothIEA
GO:0042733 embryonic digit morphogenesisTAS
GO:0043066 negative regulation of apoptotic processIEA
GO:0043585 nose morphogenesisTAS
GO:0043586 tongue developmentIEA
GO:0043627 response to estrogenIEA
GO:0045060 negative thymic T cell selectionISS
GO:0045665 negative regulation of neuron differentiationIEA
GO:0045669 positive regulation of osteoblast differentiationIEA
GO:0045879 negative regulation of smoothened signaling pathwayISS
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0045893 positive regulation of transcription, DNA-templatedISS
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0046638 positive regulation of alpha-beta T cell differentiationISS
GO:0046639 negative regulation of alpha-beta T cell differentiationISS
GO:0048557 embryonic digestive tract morphogenesisIEA
GO:0048566 embryonic digestive tract developmentTAS
GO:0048589 developmental growthIEA
GO:0048593 camera-type eye morphogenesisIEA
GO:0048704 embryonic skeletal system morphogenesisIEA
GO:0048709 oligodendrocyte differentiationIEA
GO:0060021 roof of mouth developmentIEA
GO:0060364 frontal suture morphogenesisIEA
GO:0060366 lambdoid suture morphogenesisIEA
GO:0060367 sagittal suture morphogenesisIEA
GO:0060594 mammary gland specificationIEA
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterningIEA
GO:0060840 artery developmentIEA
GO:0060873 anterior semicircular canal developmentIEA
GO:0060875 lateral semicircular canal developmentIEA
GO:0061005 cell differentiation involved in kidney developmentIEA
GO:0070242 thymocyte apoptotic processISS
GO:0090090 negative regulation of canonical Wnt signaling pathwayIDA
GO:0097421 liver regenerationIEA
GO:1903010 regulation of bone developmentIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmIDA
GO:0005829 cytosolIDA
GO:0005829 cytosolTAS
GO:0005929 ciliumIDA
GO:0005930 axonemeIEA
GO:0016607 nuclear speckIEA
GO:0017053 transcriptional repressor complexIEA
GO:0097542 ciliary tipTAS
GO:0097546 ciliary baseTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-162582 Signal TransductionTAS
R-HSA-212436 Generic Transcription PathwayIEA
R-HSA-5358351 Signaling by HedgehogTAS
R-HSA-5610785 GLI3 is processed to GLI3R by the proteasomeTAS
R-HSA-5610787 Hedgehog 'off' stateTAS
R-HSA-5632684 Hedgehog 'on' stateTAS
R-HSA-5635851 GLI proteins bind promoters of Hh responsive genes to promote transcriptionTAS
R-HSA-73857 RNA Polymerase II TranscriptionIEA
R-HSA-74160 Gene expression (Transcription)IEA
R-HSA-8878166 Transcriptional regulation by RUNX2IEA
R-HSA-8940973 RUNX2 regulates osteoblast differentiationIEA
R-HSA-8941326 RUNX2 regulates bone developmentIEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0010 Activator
KW-0966 Cell projection
KW-0969 Cilium
KW-0963 Cytoplasm
KW-0225 Disease mutation
KW-0238 DNA-binding
KW-1017 Isopeptide bond
KW-0479 Metal-binding
KW-0488 Methylation
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0621 Polymorphism
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