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UniProtKB - P08151 (GLI1_HUMAN)

Entry version 221 (17 Jun 2020)
Sequence version 1 (01 Aug 1988)
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Protein

Zinc finger protein GLI1

Gene

GLI1

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

Acts as a transcriptional activator (PubMed:19706761, PubMed:10806483, PubMed:19878745, PubMed:24311597, PubMed:24217340). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:8378770, PubMed:24217340). Regulates the transcription of specific genes during normal development (PubMed:19706761). Plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling (PubMed:19706761, PubMed:28973407). Plays a role in cell proliferation and differentiation via its role in SHH signaling (PubMed:11238441, PubMed:28973407).9 Publications
Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Mediates SHH signaling. Promotes cancer cell migration.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 fingeri235 – 260C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri268 – 295C2H2-type 2PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri301 – 325C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri331 – 356C2H2-type 4PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri362 – 387C2H2-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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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, Developmental protein, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5610780 Degradation of GLI1 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

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

More...SignaLinki		P08151

SIGNOR Signaling Network Open Resource

More...SIGNORi		P08151

<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%5Fand%5Ftaxonomy%5Fsection">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:
Zinc finger protein GLI1
Alternative name(s):
Glioma-associated oncogene
Oncogene GLI
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:GLI1
Synonyms:GLI
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000111087.9

Human Gene Nomenclature Database

More...HGNCi		HGNC:4317 GLI1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		165220 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P08151

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

Polydactyly, postaxial, A8 (PAPA8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of postaxial polydactyly, 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. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet.
Related information in OMIM
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_081480113 – 1106Missing in PAPA8. 1 PublicationAdd BLAST994
Natural variantiVAR_081481644 – 1106Missing in PAPA8. 1 PublicationAdd BLAST463
Natural variantiVAR_081482780 – 1106Missing in PAPA8; decreased transcriptional activity; reduced expression of the GLI1 target PTCH1 observed in patient fibroblasts after chemical induction of the hedgehog pathway. 1 PublicationAdd BLAST327
Polydactyly, preaxial 1 (PPD1)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_082590506L → Q in PPD1; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNET

More...DisGeNETi		2735

MalaCards human disease database

More...MalaCardsi		GLI1
MIMi174400 phenotype
618123 phenotype

Open Targets

More...OpenTargetsi		ENSG00000111087

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

More...Orphaneti		289 Ellis Van Creveld syndrome
93339 Polydactyly of a biphalangeal thumb
93334 Postaxial polydactyly type A
93335 Postaxial polydactyly type B

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28720

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P08151 Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5461

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GLI1

Domain mapping of disease mutations (DMDM)

More...DMDMi		121323

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000471971 – 1106Zinc finger protein GLI1Add BLAST1106

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 residuei518N6-acetyllysine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-linki1003Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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 in vitro by ULK3.1 Publication
Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P08151

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P08151

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P08151

MaxQB - The MaxQuant DataBase

More...MaxQBi		P08151

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

More...PaxDbi		P08151

PeptideAtlas

More...PeptideAtlasi		P08151

PRoteomics IDEntifications database

More...PRIDEi		P08151

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		27194
52074 [P08151-1]
52075 [P08151-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P08151

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

More...PhosphoSitePlusi		P08151

<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

Detected in testis (at protein level) (PubMed:2105456). Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract (PubMed:19878745). Isoform 1 is detected in brain, spleen, pancreas, liver, kidney and placenta; isoform 2 is not detectable in these tissues (PubMed:19706761).3 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Isoform 1 and isoform 2 are amplified in glioblastoma cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000111087 Expressed in tibial nerve and 138 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P08151 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P08151 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000111087 Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with KIF7 (By similarity).

Interacts with STK36 (PubMed:10806483).

Interacts with ZIC1; the interaction enhances transcription activation (PubMed:11238441).

Interacts with SUFU; this inhibits transcriptional activation by GLI1 (PubMed:10806483, PubMed:24311597, PubMed:24217340, PubMed:28965847).

By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108997, 78 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-56 GLI1-SUFU complex

Database of interacting proteins

More...DIPi		DIP-32536N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P08151

Protein interaction database and analysis system

More...IntActi		P08151, 41 interactors

Molecular INTeraction database

More...MINTi		P08151

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000228682

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P08151

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P08151 protein

<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

11106
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P08151

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P08151

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 20SNAG domainBy similarityAdd BLAST20
Regioni120 – 124Interaction with SUFU2 Publications5
Regioni283 – 291Interaction with DNA1 Publication9
Regioni345 – 350Interaction with DNA1 Publication6
Regioni375 – 381Interaction with DNA1 Publication7

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 biasi1038 – 1055Asp/Glu-rich (acidic)Add BLAST18

<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

Belongs to the GLI C2H2-type zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri235 – 260C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri268 – 295C2H2-type 2PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri301 – 325C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri331 – 356C2H2-type 4PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri362 – 387C2H2-type 5PROSITE-ProRule annotationAdd BLAST26

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160235

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_003666_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P08151

KEGG Orthology (KO)

More...KOi		K16797

Identification of Orthologs from Complete Genome Data

More...OMAi		CPQQVSY

Database of Orthologous Groups

More...OrthoDBi		135929at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P08151

TreeFam database of animal gene trees

More...TreeFami		TF350216

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR043359 GLI-like
IPR032850 GLI1
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

The PANTHER Classification System

More...PANTHERi		PTHR45718 PTHR45718, 1 hit
PTHR45718:SF2 PTHR45718:SF2, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00096 zf-C2H2, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00355 ZnF_C2H2, 5 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57667 SSF57667, 3 hits

PROSITE; a protein domain and family database

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P08151-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFNSMTPPPI SSYGEPCCLR PLPSQGAPSV GTEGLSGPPF CHQANLMSGP 
        60         70         80         90        100
HSYGPARETN SCTEGPLFSS PRSAVKLTKK RALSISPLSD ASLDLQTVIR 
       110        120        130        140        150
TSPSSLVAFI NSRCTSPGGS YGHLSIGTMS PSLGFPAQMN HQKGPSPSFG 
       160        170        180        190        200
VQPCGPHDSA RGGMIPHPQS RGPFPTCQLK SELDMLVGKC REEPLEGDMS 
       210        220        230        240        250
SPNSTGIQDP LLGMLDGRED LEREEKREPE SVYETDCRWD GCSQEFDSQE 
       260        270        280        290        300
QLVHHINSEH IHGERKEFVC HWGGCSRELR PFKAQYMLVV HMRRHTGEKP 
       310        320        330        340        350
HKCTFEGCRK SYSRLENLKT HLRSHTGEKP YMCEHEGCSK AFSNASDRAK 
       360        370        380        390        400
HQNRTHSNEK PYVCKLPGCT KRYTDPSSLR KHVKTVHGPD AHVTKRHRGD 
       410        420        430        440        450
GPLPRAPSIS TVEPKREREG GPIREESRLT VPEGAMKPQP SPGAQSSCSS 
       460        470        480        490        500
DHSPAGSAAN TDSGVEMTGN AGGSTEDLSS LDEGPCIAGT GLSTLRRLEN 
       510        520        530        540        550
LRLDQLHQLR PIGTRGLKLP SLSHTGTTVS RRVGPPVSLE RRSSSSSSIS 
       560        570        580        590        600
SAYTVSRRSS LASPFPPGSP PENGASSLPG LMPAQHYLLR ARYASARGGG 
       610        620        630        640        650
TSPTAASSLD RIGGLPMPPW RSRAEYPGYN PNAGVTRRAS DPAQAADRPA 
       660        670        680        690        700
PARVQRFKSL GCVHTPPTVA GGGQNFDPYL PTSVYSPQPP SITENAAMDA 
       710        720        730        740        750
RGLQEEPEVG TSMVGSGLNP YMDFPPTDTL GYGGPEGAAA EPYGARGPGS 
       760        770        780        790        800
LPLGPGPPTN YGPNPCPQQA SYPDPTQETW GEFPSHSGLY PGPKALGGTY 
       810        820        830        840        850
SQCPRLEHYG QVQVKPEQGC PVGSDSTGLA PCLNAHPSEG PPHPQPLFSH 
       860        870        880        890        900
YPQPSPPQYL QSGPYTQPPP DYLPSEPRPC LDFDSPTHST GQLKAQLVCN 
       910        920        930        940        950
YVQSQQELLW EGGGREDAPA QEPSYQSPKF LGGSQVSPSR AKAPVNTYGP 
       960        970        980        990       1000
GFGPNLPNHK SGSYPTPSPC HENFVVGANR ASHRAAAPPR LLPPLPTCYG 
      1010       1020       1030       1040       1050
PLKVGGTNPS CGHPEVGRLG GGPALYPPPE GQVCNPLDSL DLDNTQLDFV 
      1060       1070       1080       1090       1100
AILDEPQGLS PPPSHDQRGS SGHTPPPSGP PNMAVGNMSV LLRSLPGETE 

FLNSSA
Length:1,106
Mass (Da):117,904
Last modified:August 1, 1988 - v1
<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:iE29B11D1A6CD3D91
GO
Isoform 2 (identifier: P08151-2) [UniParc]FASTAAdd to basket
Also known as: tGLI1

The sequence of this isoform differs from the canonical sequence as follows:
     34-74: Missing.

Note: Undetectable in normal cells but highly expressed in cancer cells.Curated
Show »
Length:1,065
Mass (Da):113,676
Checksum:iBEDBBC5D160A6A1C
GO
Isoform 3 (identifier: P08151-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-128: Missing.

Show »
Length:978
Mass (Da):104,627
Checksum:i947FFF4234D96403
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PIB9E9PIB9_HUMAN
Zinc finger protein GLI1
GLI1
175Annotation 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>
E9PQQ1E9PQQ1_HUMAN
Zinc finger protein GLI1
GLI1
129Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1106A → AS in ACX35434 (PubMed:19706761).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081480113 – 1106Missing in PAPA8. 1 PublicationAdd BLAST994
Natural variantiVAR_035557210P → A in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_082590506L → Q in PPD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_035558514T → I in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_081481644 – 1106Missing in PAPA8. 1 PublicationAdd BLAST463
Natural variantiVAR_081482780 – 1106Missing in PAPA8; decreased transcriptional activity; reduced expression of the GLI1 target PTCH1 observed in patient fibroblasts after chemical induction of the hedgehog pathway. 1 PublicationAdd BLAST327
Natural variantiVAR_035559817E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_015114884D → A1 Publication1
Natural variantiVAR_015115933G → D2 PublicationsCorresponds to variant dbSNP:rs2228224Ensembl.1
Natural variantiVAR_0527231012G → V. Corresponds to variant dbSNP:rs2229300Ensembl.1
Natural variantiVAR_0151161100E → Q2 PublicationsCorresponds to variant dbSNP:rs2228226Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0548291 – 128Missing in isoform 3. CuratedAdd BLAST128
Alternative sequenceiVSP_04221534 – 74Missing in isoform 2. 1 PublicationAdd BLAST41

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
X07384 mRNA Translation: CAA30297.1
AF316573 Genomic DNA Translation: AAM13391.1
GQ890670 mRNA Translation: ACX35434.1
AC022506 Genomic DNA No translation available.
BC013000 mRNA Translation: AAH13000.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53806.1 [P08151-2]
CCDS53807.1 [P08151-3]
CCDS8940.1 [P08151-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S00672 TVHUGL

NCBI Reference Sequences

More...RefSeqi		NP_001153517.1, NM_001160045.1 [P08151-3]
NP_001161081.1, NM_001167609.1 [P08151-2]
NP_005260.1, NM_005269.2 [P08151-1]
XP_011536491.1, XM_011538189.2 [P08151-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000228682; ENSP00000228682; ENSG00000111087 [P08151-1]
ENST00000528467; ENSP00000434408; ENSG00000111087 [P08151-2]
ENST00000543426; ENSP00000437607; ENSG00000111087 [P08151-3]
ENST00000546141; ENSP00000441006; ENSG00000111087 [P08151-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2735

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2735

UCSC genome browser

More...UCSCi		uc001snx.4 human [P08151-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X07384 mRNA Translation: CAA30297.1
AF316573 Genomic DNA Translation: AAM13391.1
GQ890670 mRNA Translation: ACX35434.1
AC022506 Genomic DNA No translation available.
BC013000 mRNA Translation: AAH13000.1
CCDSiCCDS53806.1 [P08151-2]
CCDS53807.1 [P08151-3]
CCDS8940.1 [P08151-1]
PIRiS00672 TVHUGL
RefSeqiNP_001153517.1, NM_001160045.1 [P08151-3]
NP_001161081.1, NM_001167609.1 [P08151-2]
NP_005260.1, NM_005269.2 [P08151-1]
XP_011536491.1, XM_011538189.2 [P08151-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2GLIX-ray2.60A234-388[»]
4BLBX-ray2.80E/F/G/H115-131[»]
4KMDX-ray1.70B112-128[»]
5OM0X-ray3.20A/B637-645[»]
SMRiP08151
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108997, 78 interactors
ComplexPortaliCPX-56 GLI1-SUFU complex
DIPiDIP-32536N
ELMiP08151
IntActiP08151, 41 interactors
MINTiP08151
STRINGi9606.ENSP00000228682

Chemistry databases

BindingDBiP08151
ChEMBLiCHEMBL5461

PTM databases

iPTMnetiP08151
PhosphoSitePlusiP08151

Polymorphism and mutation databases

BioMutaiGLI1
DMDMi121323

Proteomic databases

EPDiP08151
jPOSTiP08151
MassIVEiP08151
MaxQBiP08151
PaxDbiP08151
PeptideAtlasiP08151
PRIDEiP08151
ProteomicsDBi27194
52074 [P08151-1]
52075 [P08151-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4004 778 antibodies

Genome annotation databases

EnsembliENST00000228682; ENSP00000228682; ENSG00000111087 [P08151-1]
ENST00000528467; ENSP00000434408; ENSG00000111087 [P08151-2]
ENST00000543426; ENSP00000437607; ENSG00000111087 [P08151-3]
ENST00000546141; ENSP00000441006; ENSG00000111087 [P08151-2]
GeneIDi2735
KEGGihsa:2735
UCSCiuc001snx.4 human [P08151-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2735
DisGeNETi2735
EuPathDBiHostDB:ENSG00000111087.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		GLI1
HGNCiHGNC:4317 GLI1
HPAiENSG00000111087 Low tissue specificity
MalaCardsiGLI1
MIMi165220 gene
174400 phenotype
618123 phenotype
neXtProtiNX_P08151
OpenTargetsiENSG00000111087
Orphaneti289 Ellis Van Creveld syndrome
93339 Polydactyly of a biphalangeal thumb
93334 Postaxial polydactyly type A
93335 Postaxial polydactyly type B
PharmGKBiPA28720

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000160235
HOGENOMiCLU_003666_0_0_1
InParanoidiP08151
KOiK16797
OMAiCPQQVSY
OrthoDBi135929at2759
PhylomeDBiP08151
TreeFamiTF350216

Enzyme and pathway databases

ReactomeiR-HSA-5610780 Degradation of GLI1 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
SignaLinkiP08151
SIGNORiP08151

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2735 15 hits in 808 CRISPR screens
EvolutionaryTraceiP08151

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GLI1

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

More...GenomeRNAii		2735
PharosiP08151 Tchem

Protein Ontology

More...PROi		PR:P08151
RNActiP08151 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000111087 Expressed in tibial nerve and 138 other tissues
ExpressionAtlasiP08151 baseline and differential
GenevisibleiP08151 HS

Family and domain databases

InterProiView protein in InterPro
IPR043359 GLI-like
IPR032850 GLI1
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR45718 PTHR45718, 1 hit
PTHR45718:SF2 PTHR45718:SF2, 1 hit
PfamiView protein in Pfam
PF00096 zf-C2H2, 3 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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiGLI1_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: P08151
Secondary accession number(s): D0EUY3
, E9PQQ9, F5H6H8, Q8TDN9
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: June 17, 2020
This is version 221 of the entry and version 1 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, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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