{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P10071","secondaryAccessions":["A4D1W1","O75219","Q17RW4","Q75MT0","Q75MU9","Q9UDT5","Q9UJ39"],"uniProtkbId":"GLI3_HUMAN","entryAudit":{"firstPublicDate":"1989-07-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2009-11-24","entryVersion":242,"sequenceVersion":6},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Transcription activator GLI3"}},"alternativeNames":[{"fullName":{"value":"GLI3 form of 190 kDa"},"shortNames":[{"value":"GLI3-190"}]},{"fullName":{"value":"GLI3 full-length protein"},"shortNames":[{"value":"GLI3FL"}]}],"contains":[{"recommendedName":{"fullName":{"value":"Transcription repressor GLI3R"}},"alternativeNames":[{"fullName":{"value":"GLI3 C-terminally truncated form"}},{"fullName":{"value":"GLI3 form of 83 kDa"},"shortNames":[{"value":"GLI3-83"}]}]}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"2118997"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:4319"}],"value":"GLI3"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10075717"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10375510"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10693759"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11238441"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17764085"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154143"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27146893"}],"value":"Transcription factor that acts as a key effector of the smoothened signaling pathway, and which plays a role in the development and patterning of various body structures, including the brain and limbs (PubMed:10075717, PubMed:10375510, PubMed:10693759, PubMed:11238441, PubMed:17764085, PubMed:20154143, PubMed:27146893). Specifically binds to the minimal GLI-consensus sequence 5'-GACCACCCA-3' to activate or repress the expression of target genes (PubMed:10075717). Functions both as a transcriptional activator and repressor: the full-length GLI3 form (Transcription activator GLI3) acts as a transcription activator following smoothened activation, while the Transcription repressor GLI3R, which is generated in absence of smoothened, acts as a transcription repressor (PubMed:10375510). The repressor form (GLI3R) constitutes the major form of GLI3 (PubMed:10375510)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10375510"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10693759"}],"value":"Major transcription repressor, which inhibits expression of target genes in the absence of smoothened (SMO) signaling (PubMed:10375510, PubMed:10693759). Generated by proteolytic processing of the full-length GLI3 form in the absence of hedgehog (DHH, IHH or SHH), when SMO transducer is inhibited (PubMed:10375510). Constitutes the major form of GLI3, while the transcription activator form only plays a minor role (PubMed:10375510)"}],"commentType":"FUNCTION","molecule":"Transcription repressor GLI3R"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10075717"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19389374"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27146893"}],"value":"Transcription factor, which activates expression of target genes in response to smoothened (SMO) activation (PubMed:10075717, PubMed:27146893). Constitutes a minor form of GLI3, while the transcription repressor form (GLI3R) plays a major role (PubMed:10075717). 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 (PubMed:19389374)"}],"commentType":"FUNCTION","molecule":"Transcription activator GLI3"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24311597"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38968120"}],"value":"Maintained in an inactive state by SUFU, which sequesters GLI3 in the cytoplasm (PubMed:24311597). In presence of hedgehog (DHH, IHH or SHH), smoothened is activated, leading to phosphorylation by DYRK2 and dissociation from SUFU and translocation to the nucleus (PubMed:24311597, PubMed:38968120). In absence of hedgehog, smoothened is inhibited, promoting processing of GLI3 into Transcription repressor GLI3R, which dissociates from SUFU and translocates to the nucleus (PubMed:24311597)"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q61602"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11238441"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17764085"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19592253"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23955340"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24311597"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28965847"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29263200"}],"value":"Interacts with SUFU; sequestering GLI3 in the cytoplasm (PubMed:24311597, PubMed:28965847). Interacts with KIF7 (PubMed:19592253). Interacts with ZIC1 (PubMed:11238441). Interacts with ZIC3 (via C2H2-type domains 3, 4 and 5); the interaction enhances its transcriptional activity (PubMed:17764085). Interacts with WRD11; the interaction associates EMX1 with GLI3 (PubMed:29263200). Interacts with DZIP1; retains GLI3 within the cytoplasm (PubMed:23955340). Interacts with TMEM216; this interaction reduces nuclear localization of GLI3 (By similarity)"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19389374"}],"value":"Interacts with TRPS1"}],"commentType":"SUBUNIT","molecule":"Transcription activator GLI3"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P10071","intActId":"EBI-308055"},"interactantTwo":{"uniProtKBAccession":"Q9UMX1","geneName":"SUFU","intActId":"EBI-740595"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P10071","intActId":"EBI-308055"},"interactantTwo":{"uniProtKBAccession":"Q6ZWS8","geneName":"Spop","intActId":"EBI-7128920"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P10071","intActId":"EBI-308055"},"interactantTwo":{"uniProtKBAccession":"P46684","geneName":"Zic1","intActId":"EBI-308006"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P10071","intActId":"EBI-308055"},"interactantTwo":{"uniProtKBAccession":"Q62520","geneName":"Zic2","intActId":"EBI-308076"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"chainId":"PRO_0000406137","intActId":"EBI-26568850"},"interactantTwo":{"uniProtKBAccession":"Q04741","geneName":"EMX1","intActId":"EBI-26568770"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"chainId":"PRO_0000406137","intActId":"EBI-26568850"},"interactantTwo":{"uniProtKBAccession":"Q9BZH6","geneName":"WDR11","intActId":"EBI-2009923"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24311597"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38968120"}],"value":"Full-length GLI3 is sequestered in the cytoplasm by SUFU in absence of smoothened signaling"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10375510"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11238441"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17283082"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38968120"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10375510"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17283082"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38968120"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19592253"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38968120"}],"value":"Cell projection, cilium","id":"SL-0066"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Transcription repressor GLI3R","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17283082"}],"value":"Following generation by proteolytic processing in absence of smoothened, translocates to the nucleus, where is represses transcription of target genes"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10375510"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17283082"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Transcription activator GLI3","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q61602"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11238441"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19592253"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154143"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38968120"}],"value":"Sequestered in the cytoplasm by SUFU in absence of smoothened signaling (PubMed:38968120). Accumulates in primary cilia following smoothened activation: cilium localization requires the presence of KIF7 (PubMed:19592253, PubMed:20154143). It then translocates to the nucleus, where is activates transcription of target genes (PubMed:38968120). Translocation to the nucleus is promoted by interaction with ZIC1 (PubMed:11238441). TMEM216 reduces its nuclear localization (By similarity)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11238441"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38968120"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19592253"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154143"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38968120"}],"value":"Cell projection, cilium","id":"SL-0066"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19592253"}],"value":"Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10375510"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10693759"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16705181"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18455992"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19878745"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154143"}],"value":"In absence of smoothened, phosphorylated on multiple sites by protein kinase A (PKA), priming further phosphorylation by CK1 and GSK3B: phosphorylation promotes ubiquitination by the SCF(BTRC) complex and partial proteolysis to generate the Transcription repressor GLI3R form (PubMed:10375510, PubMed:10693759, PubMed:16705181, PubMed:20154143). Phosphorylated by DYRK2 and ULK3 (in vitro) (PubMed:18455992, PubMed:19878745)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38968120"}],"value":"Phosphorylation at Ser-313 by DYRK2 in response to smoothened activation, promotes GLI3 dissociation from SUFU inhibitor and translocation to the nucleus"}],"commentType":"PTM","molecule":"Transcription activator GLI3"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27146893"}],"value":"Monomethylation at Lys-436 and Lys-595 by SETD7 enhances its ability to bind DNA, thereby increasing the transcription activator activity"}],"commentType":"PTM","molecule":"Transcription activator GLI3"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16371461"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16705181"}],"value":"In absence of smoothened signaling, ubiquitinated by the SCF(BTRC) complex following phosphorylation by PKA and GSK3B, generating the Transcription repressor GLI3R form"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10375510"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10693759"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16371461"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16705181"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17283082"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20154143"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21921029"}],"value":"Generated from the full-length GLI3 protein through proteolytic processing (PubMed:10375510, PubMed:10693759, PubMed:16371461, PubMed:16705181, PubMed:17283082, PubMed:20154143, PubMed:21921029). This process requires PKA-primed phosphorylation of GLI3, ubiquitination by the SCF(BTRC) complex and limited proteolysis (PubMed:10375510, PubMed:10693759, PubMed:16371461, PubMed:16705181, PubMed:21921029)"}],"commentType":"PTM","molecule":"Transcription repressor GLI3R"},{"commentType":"DISEASE","disease":{"diseaseId":"Greig cephalo-poly-syndactyly syndrome","diseaseAccession":"DI-01685","acronym":"GCPS","description":"Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.","diseaseCrossReference":{"database":"MIM","id":"175700"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441342"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12414818"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12794692"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9302279"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Pallister-Hall syndrome","diseaseAccession":"DI-02122","acronym":"PHS","description":"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.","diseaseCrossReference":{"database":"MIM","id":"146510"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441570"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Polydactyly, postaxial A1","diseaseAccession":"DI-02397","acronym":"PAPA1","description":"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.","diseaseCrossReference":{"database":"MIM","id":"174200"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441570"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Polydactyly, postaxial B","diseaseAccession":"DI-03100","acronym":"PAPB","description":"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.","diseaseCrossReference":{"database":"MIM","id":"174200"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441570"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Polydactyly, preaxial 4","diseaseAccession":"DI-02401","acronym":"PPD4","description":"A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD4 is an autosomal dominant form characterized by mild duplication of the thumb, syndactyly of various degrees affects fingers 3 and 4, duplication of part or all of the first or second toes and variable toes syndactyly. Some patients have only foot involvement.","diseaseCrossReference":{"database":"MIM","id":"174700"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441570"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the GLI C2H2-type zinc-finger protein family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Frameshift","sequence":"AAA52564.1","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1580,"modifier":"EXACT"}},"description":"Transcription activator GLI3","featureId":"PRO_0000047202"},{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":null,"modifier":"UNKNOWN"}},"description":"Transcription repressor GLI3R","featureId":"PRO_0000406137"},{"type":"Zinc 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