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Protein

Transcriptional activator GLI3

Gene

GLI3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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'.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri480 – 505C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri513 – 540C2H2-type 2PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri546 – 570C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri576 – 601C2H2-type 4PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri607 – 632C2H2-type 5PROSITE-ProRule annotationAdd BLAST26

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5610785 GLI3 is processed to GLI3R by the proteasome
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5635851 GLI proteins bind promoters of Hh responsive genes to promote transcription
R-HSA-8940973 RUNX2 regulates osteoblast differentiation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P10071

SIGNOR Signaling Network Open Resource

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SIGNORi
P10071

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transcriptional activator GLI3
Alternative name(s):
GLI3 form of 190 kDa
Short name:
GLI3-190
GLI3 full-length protein
Short name:
GLI3FL
Cleaved into the following chain:
Alternative name(s):
GLI3 C-terminally truncated form
GLI3 form of 83 kDa
Short name:
GLI3-83
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GLI3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000106571.12

Human Gene Nomenclature Database

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HGNCi
HGNC:4319 GLI3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
165240 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P10071

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Greig cephalo-poly-syndactyly syndrome (GCPS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.
See also OMIM:175700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010053515C → G in GCPS. 1 Publication1
Natural variantiVAR_010054520C → Y in GCPS. 1 Publication1
Natural variantiVAR_021481625R → W in GCPS. 1 PublicationCorresponds to variant dbSNP:rs121917712EnsemblClinVar.1
Natural variantiVAR_010055707P → S in GCPS. 1 PublicationCorresponds to variant dbSNP:rs121917716EnsemblClinVar.1
Natural variantiVAR_021482934A → P in GCPS; the patient was originally classifed as being affected by acrocallosal syndrome due to the absence of corpus callosum. 1 PublicationCorresponds to variant dbSNP:rs28933372EnsemblClinVar.1
Pallister-Hall syndrome (PHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:146510
Polydactyly, postaxial A1 (PAPA1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:174200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009876727G → R in PAPA1 and PAPB. 1 PublicationCorresponds to variant dbSNP:rs121917710EnsemblClinVar.1
Polydactyly, postaxial B (PAPB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:174200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009876727G → R in PAPA1 and PAPB. 1 PublicationCorresponds to variant dbSNP:rs121917710EnsemblClinVar.1
Polydactyly preaxial 4 (POP4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionPreaxial polydactyly (i.e., polydactyly on the radial/tibial side of the hand/foot) covers a heterogeneous group of entities. In preaxial polydactyly type IV, the thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4.
See also OMIM:174700

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi773K → R: Loss of proteolytic processing. 1 Publication1
Mutagenesisi779K → R: Loss of proteolytic processing. 1 Publication1
Mutagenesisi784K → R: Loss of proteolytic processing. 1 Publication1
Mutagenesisi800K → R: Loss of proteolytic processing. 1 Publication1
Mutagenesisi849S → A: Loss of phosphorylation and proteolytic processing. 2 Publications1
Mutagenesisi855S → A: Loss of proteolytic processing. 1 Publication1
Mutagenesisi856S → A: Loss of proteolytic processing. 1 Publication1
Mutagenesisi861S → A: Loss of proteolytic processing. 1 Publication1
Mutagenesisi864S → A: Loss of proteolytic processing. 1 Publication1
Mutagenesisi865S → A: Loss of phosphorylation and proteolytic processing. 1 Publication1
Mutagenesisi873S → A: Loss of proteolytic processing. 1 Publication1
Mutagenesisi877S → A: Loss of phosphorylation and proteolytic processing. 2 Publications1
Mutagenesisi903S → A: Loss of proteolytic processing. 1 Publication1
Mutagenesisi907S → A: Loss of phosphorylation and proteolytic processing. 2 Publications1
Mutagenesisi980S → A: Loss of phosphorylation and proteolytic processing. 1 Publication1
Mutagenesisi1006S → A: Loss of phosphorylation and proteolytic processing. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
2737

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GLI3

MalaCards human disease database

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MalaCardsi
GLI3
MIMi146510 phenotype
174200 phenotype
174700 phenotype
175700 phenotype

Open Targets

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OpenTargetsi
ENSG00000106571

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
36 Acrocallosal syndrome
380 Greig cephalopolysyndactyly syndrome
672 Pallister-Hall syndrome
93338 Polysyndactyly
93334 Postaxial polydactyly type A
93335 Postaxial polydactyly type B
93322 Tibial hemimelia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28722

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GLI3

Domain mapping of disease mutations (DMDM)

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DMDMi
269849770

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000472021 – 1580Transcriptional activator GLI3Add BLAST1580
ChainiPRO_00004061371 – ?Transcriptional repressor GLI3R

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei175Omega-N-methylarginineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki438Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki462Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei664PhosphoserineCombined sources1
Cross-linki773Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki779Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki779Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate1 Publication
Cross-linki784Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki800Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei849Phosphoserine; by PKA1 Publication1
Modified residuei865Phosphoserine; by PKA1 Publication1
Modified residuei877Phosphoserine; by PKA1 Publication1
Modified residuei907Phosphoserine; by PKA1 Publication1
Modified residuei980Phosphoserine; by PKA1 Publication1
Modified residuei1006Phosphoserine; by PKA1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on multiple sites by protein kinase A (PKA) and phosphorylation by PKA primes further phosphorylation by CK1 and GSK3. Phosphorylated by DYRK2 (in vitro). Phosphorylation is essential for its proteolytic processing.
Transcriptional repressor GLI3R, a C-terminally truncated form, is generated from the full-length GLI3 protein (GLI3FL/GLI3-190) through proteolytic processing. This process requires PKA-primed phosphorylation of GLI3, ubiquitination of GLI3 and the presence of BTRC. GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. GLI3R formation leads to its dissociation from SUFU, allowing it to translocate into the nucleus, and repress Hh target genes. When Hh signaling is initiated, SUFU dissociates from GLI3FL and this has two consequences. First, GLI3R production is halted. Second, free GLI3FL translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Phosphorylated in vitro by ULK3.2 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P10071

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P10071

MaxQB - The MaxQuant DataBase

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MaxQBi
P10071

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P10071

PeptideAtlas

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PeptideAtlasi
P10071

PRoteomics IDEntifications database

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PRIDEi
P10071

ProteomicsDB human proteome resource

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ProteomicsDBi
52557

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P10071

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P10071

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000106571 Expressed in 224 organ(s), highest expression level in tendon

CleanEx database of gene expression profiles

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CleanExi
HS_GLI3

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P10071 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P10071 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA005534

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The full-length GLI3 form (GLI3FL) interacts with SUFU and this interaction regulates the formation of either repressor or activator forms of GLI3. Its association with SUFU is regulated by Hh signaling and dissociation of the SUFU-GLI3 interaction requires the presence of the ciliary motor KIF3A (By similarity). Interacts with KIF7. The activator form of GLI3 (GLI3A) but not the repressor form (GLI3R) can interact with TRPS1. The phosphorylated form interacts with BTRC. Interacts with ZIC1. Interacts with ZIC3 (via C2H2-type domains 3, 4 and 5); the interaction enhances its transcriptional activity. Interacts with WRD11; the interaction associates EMX1 with GLI3 (PubMed:29263200).By similarity9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108999, 31 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-150 GLI3-SUFU complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P10071

Database of interacting proteins

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DIPi
DIP-32538N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P10071

Protein interaction database and analysis system

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IntActi
P10071, 13 interactors

Molecular INTeraction database

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MINTi
P10071

STRING: functional protein association networks

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STRINGi
9606.ENSP00000379258

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11580
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BLDX-ray2.80E/F/G/H328-344[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P10071

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P10071

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1492 – 1512Asp/Glu-rich (acidic)Add BLAST21

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri480 – 505C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri513 – 540C2H2-type 2PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri546 – 570C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri576 – 601C2H2-type 4PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri607 – 632C2H2-type 5PROSITE-ProRule annotationAdd BLAST26

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155925

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005844

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P10071

KEGG Orthology (KO)

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KOi
K06230

Identification of Orthologs from Complete Genome Data

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OMAi
QYGNCLN

Database of Orthologous Groups

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OrthoDBi
589058at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P10071

TreeFam database of animal gene trees

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TreeFami
TF350216

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR032851 GLI3
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

The PANTHER Classification System

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PANTHERi
PTHR19818:SF5 PTHR19818:SF5, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00096 zf-C2H2, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 5 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57667 SSF57667, 3 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 5 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

P10071-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEAQSHSSTT TEKKKVENSI VKCSTRTDVS EKAVASSTTS NEDESPGQTY
60 70 80 90 100
HRERRNAITM QPQNVQGLSK VSEEPSTSSD ERASLIKKEI HGSLPHVAEP
110 120 130 140 150
SVPYRGTVFA MDPRNGYMEP HYHPPHLFPA FHPPVPIDAR HHEGRYHYDP
160 170 180 190 200
SPIPPLHMTS ALSSSPTYPD LPFIRISPHR NPTAASESPF SPPHPYINPY
210 220 230 240 250
MDYIRSLHSS PSLSMISATR GLSPTDAPHA GVSPAEYYHQ MALLTGQRSP
260 270 280 290 300
YADIIPSAAT AGTGAIHMEY LHAMDSTRFS SPRLSARPSR KRTLSISPLS
310 320 330 340 350
DHSFDLQTMI RTSPNSLVTI LNNSRSSSSA SGSYGHLSAS AISPALSFTY
360 370 380 390 400
SSAPVSLHMH QQILSRQQSL GSAFGHSPPL IHPAPTFPTQ RPIPGIPTVL
410 420 430 440 450
NPVQVSSGPS ESSQNKPTSE SAVSSTGDPM HNKRSKIKPD EDLPSPGARG
460 470 480 490 500
QQEQPEGTTL VKEEGDKDES KQEPEVIYET NCHWEGCARE FDTQEQLVHH
510 520 530 540 550
INNDHIHGEK KEFVCRWLDC SREQKPFKAQ YMLVVHMRRH TGEKPHKCTF
560 570 580 590 600
EGCTKAYSRL ENLKTHLRSH TGEKPYVCEH EGCNKAFSNA SDRAKHQNRT
610 620 630 640 650
HSNEKPYVCK IPGCTKRYTD PSSLRKHVKT VHGPEAHVTK KQRGDIHPRP
660 670 680 690 700
PPPRDSGSHS QSRSPGRPTQ GALGEQQDLS NTTSKREECL QVKTVKAEKP
710 720 730 740 750
MTSQPSPGGQ SSCSSQQSPI SNYSNSGLEL PLTDGGSIGD LSAIDETPIM
760 770 780 790 800
DSTISTATTA LALQARRNPA GTKWMEHVKL ERLKQVNGMF PRLNPILPPK
810 820 830 840 850
APAVSPLIGN GTQSNNTCSL GGPMTLLPGR SDLSGVDVTM LNMLNRRDSS
860 870 880 890 900
ASTISSAYLS SRRSSGISPC FSSRRSSEAS QAEGRPQNVS VADSYDPIST
910 920 930 940 950
DASRRSSEAS QSDGLPSLLS LTPAQQYRLK AKYAAATGGP PPTPLPNMER
960 970 980 990 1000
MSLKTRLALL GDALEPGVAL PPVHAPRRCS DGGAHGYGRR HLQPHDAPGH
1010 1020 1030 1040 1050
GVRRASDPVR TGSEGLALPR VPRFSSLSSC NPPAMATSAE KRSLVLQNYT
1060 1070 1080 1090 1100
RPEGGQSRNF HSSPCPPSIT ENVTLESLTM DADANLNDED FLPDDVVQYL
1110 1120 1130 1140 1150
NSQNQAGYEQ HFPSALPDDS KVPHGPGDFD APGLPDSHAG QQFHALEQPC
1160 1170 1180 1190 1200
PEGSKTDLPI QWNEVSSGSA DLSSSKLKCG PRPAVPQTRA FGFCNGMVVH
1210 1220 1230 1240 1250
PQNPLRSGPA GGYQTLGENS NPYGGPEHLM LHNSPGSGTS GNAFHEQPCK
1260 1270 1280 1290 1300
APQYGNCLNR QPVAPGALDG ACGAGIQASK LKSTPMQGSG GQLNFGLPVA
1310 1320 1330 1340 1350
PNESAGSMVN GMQNQDPVGQ GYLAHQLLGD SMQHPGAGRP GQQMLGQISA
1360 1370 1380 1390 1400
TSHINIYQGP ESCLPGAHGM GSQPSSLAVV RGYQPCASFG GSRRQAMPRD
1410 1420 1430 1440 1450
SLALQSGQLS DTSQTCRVNG IKMEMKGQPH PLCSNLQNYS GQFYDQTVGF
1460 1470 1480 1490 1500
SQQDTKAGSF SISDASCLLQ GTSAKNSELL SPGANQVTST VDSLDSHDLE
1510 1520 1530 1540 1550
GVQIDFDAII DDGDHSSLMS GALSPSIIQN LSHSSSRLTT PRASLPFPAL
1560 1570 1580
SMSTTNMAIG DMSSLLTSLA EESKFLAVMQ
Length:1,580
Mass (Da):169,863
Last modified:November 24, 2009 - v6
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i423B7495FCE3C37C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YGX0A0A2R8YGX0_HUMAN
Transcriptional activator GLI3
GLI3
1,521Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J9N4C9J9N4_HUMAN
Transcriptional activator GLI3
GLI3
180Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y723A0A2R8Y723_HUMAN
Transcriptional activator GLI3
GLI3
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6R3A0A2R8Y6R3_HUMAN
Transcriptional activator GLI3
GLI3
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEV4F8WEV4_HUMAN
Transcriptional activator GLI3
GLI3
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA52564 differs from that shown. Reason: Frameshift at position 1549.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035560169P → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_028276183T → A3 PublicationsCorresponds to variant dbSNP:rs846266EnsemblClinVar.1
Natural variantiVAR_010052440D → E1 Publication1
Natural variantiVAR_010053515C → G in GCPS. 1 Publication1
Natural variantiVAR_010054520C → Y in GCPS. 1 Publication1
Natural variantiVAR_021481625R → W in GCPS. 1 PublicationCorresponds to variant dbSNP:rs121917712EnsemblClinVar.1
Natural variantiVAR_010055707P → S in GCPS. 1 PublicationCorresponds to variant dbSNP:rs121917716EnsemblClinVar.1
Natural variantiVAR_009876727G → R in PAPA1 and PAPB. 1 PublicationCorresponds to variant dbSNP:rs121917710EnsemblClinVar.1
Natural variantiVAR_010056808I → M1 PublicationCorresponds to variant dbSNP:rs62622373EnsemblClinVar.1
Natural variantiVAR_021482934A → P in GCPS; the patient was originally classifed as being affected by acrocallosal syndrome due to the absence of corpus callosum. 1 PublicationCorresponds to variant dbSNP:rs28933372EnsemblClinVar.1
Natural variantiVAR_028278998P → L3 PublicationsCorresponds to variant dbSNP:rs929387EnsemblClinVar.1
Natural variantiVAR_0355611304S → P in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0348651336G → E. Corresponds to variant dbSNP:rs35280470EnsemblClinVar.1
Natural variantiVAR_0100571537R → C1 PublicationCorresponds to variant dbSNP:rs35364414EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M57609 mRNA Translation: AAA52564.1 Frameshift.
AJ250408 Genomic DNA Translation: CAB59315.1
AC005026 Genomic DNA Translation: AAP21869.1
AC005028 Genomic DNA Translation: AAS01998.1
AC005158 Genomic DNA Translation: AAS02015.1
AC073852 Genomic DNA No translation available.
CH236951 Genomic DNA Translation: EAL24002.1
M20674 Genomic DNA No translation available.
BC113616 mRNA Translation: AAI13617.1
BC117168 mRNA Translation: AAI17169.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5465.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A35927

NCBI Reference Sequences

More...
RefSeqi
NP_000159.3, NM_000168.5

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.21509

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000395925; ENSP00000379258; ENSG00000106571

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2737

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2737

UCSC genome browser

More...
UCSCi
uc011kbh.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M57609 mRNA Translation: AAA52564.1 Frameshift.
AJ250408 Genomic DNA Translation: CAB59315.1
AC005026 Genomic DNA Translation: AAP21869.1
AC005028 Genomic DNA Translation: AAS01998.1
AC005158 Genomic DNA Translation: AAS02015.1
AC073852 Genomic DNA No translation available.
CH236951 Genomic DNA Translation: EAL24002.1
M20674 Genomic DNA No translation available.
BC113616 mRNA Translation: AAI13617.1
BC117168 mRNA Translation: AAI17169.1
CCDSiCCDS5465.1
PIRiA35927
RefSeqiNP_000159.3, NM_000168.5
UniGeneiHs.21509

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BLDX-ray2.80E/F/G/H328-344[»]
ProteinModelPortaliP10071
SMRiP10071
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108999, 31 interactors
ComplexPortaliCPX-150 GLI3-SUFU complex
CORUMiP10071
DIPiDIP-32538N
ELMiP10071
IntActiP10071, 13 interactors
MINTiP10071
STRINGi9606.ENSP00000379258

PTM databases

iPTMnetiP10071
PhosphoSitePlusiP10071

Polymorphism and mutation databases

BioMutaiGLI3
DMDMi269849770

Proteomic databases

EPDiP10071
jPOSTiP10071
MaxQBiP10071
PaxDbiP10071
PeptideAtlasiP10071
PRIDEiP10071
ProteomicsDBi52557

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000395925; ENSP00000379258; ENSG00000106571
GeneIDi2737
KEGGihsa:2737
UCSCiuc011kbh.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2737
DisGeNETi2737
EuPathDBiHostDB:ENSG00000106571.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GLI3
GeneReviewsiGLI3

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0033636
HGNCiHGNC:4319 GLI3
HPAiHPA005534
MalaCardsiGLI3
MIMi146510 phenotype
165240 gene
174200 phenotype
174700 phenotype
175700 phenotype
neXtProtiNX_P10071
OpenTargetsiENSG00000106571
Orphaneti36 Acrocallosal syndrome
380 Greig cephalopolysyndactyly syndrome
672 Pallister-Hall syndrome
93338 Polysyndactyly
93334 Postaxial polydactyly type A
93335 Postaxial polydactyly type B
93322 Tibial hemimelia
PharmGKBiPA28722

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000155925
HOVERGENiHBG005844
InParanoidiP10071
KOiK06230
OMAiQYGNCLN
OrthoDBi589058at2759
PhylomeDBiP10071
TreeFamiTF350216

Enzyme and pathway databases

ReactomeiR-HSA-5610785 GLI3 is processed to GLI3R by the proteasome
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5635851 GLI proteins bind promoters of Hh responsive genes to promote transcription
R-HSA-8940973 RUNX2 regulates osteoblast differentiation
SignaLinkiP10071
SIGNORiP10071

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GLI3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GLI3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2737

Protein Ontology

More...
PROi
PR:P10071

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106571 Expressed in 224 organ(s), highest expression level in tendon
CleanExiHS_GLI3
ExpressionAtlasiP10071 baseline and differential
GenevisibleiP10071 HS

Family and domain databases

InterProiView protein in InterPro
IPR032851 GLI3
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR19818:SF5 PTHR19818:SF5, 1 hit
PfamiView protein in Pfam
PF00096 zf-C2H2, 4 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 5 hits
SUPFAMiSSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGLI3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P10071
Secondary accession number(s): A4D1W1
, O75219, Q17RW4, Q75MT0, Q75MU9, Q9UDT5, Q9UJ39
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: November 24, 2009
Last modified: January 16, 2019
This is version 203 of the entry and version 6 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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