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UniProtKB - P08151 (GLI1_HUMAN)

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Protein

Zinc finger protein GLI1

Gene

GLI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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). May regulate the transcription of specific genes during normal development (PubMed:19706761). May play 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). Plays a role in cell proliferation and differentiation via its role in SHH signaling (Probable).Curated8 Publications
Isoform 2: 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
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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • canonical Wnt signaling pathway Source: Ensembl
  • cerebellar cortex morphogenesis Source: Ensembl
  • digestive tract morphogenesis Source: BHF-UCL
  • dorsal/ventral pattern formation Source: Ensembl
  • epidermal cell differentiation Source: UniProtKB
  • liver regeneration Source: Ensembl
  • lung development Source: Ensembl
  • negative regulation of canonical Wnt signaling pathway Source: UniProtKB
  • notochord regression Source: Ensembl
  • osteoblast differentiation Source: UniProtKB
  • pituitary gland development Source: Ensembl
  • positive regulation of cardiac muscle cell proliferation Source: BHF-UCL
  • positive regulation of cell cycle G1/S phase transition Source: BHF-UCL
  • positive regulation of cell migration Source: UniProtKB
  • positive regulation of cell proliferation Source: UniProtKB
  • positive regulation of DNA replication Source: UniProtKB
  • positive regulation of smoothened signaling pathway Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription by RNA polymerase II Source: UniProtKB
  • prostate gland development Source: Ensembl
  • proximal/distal pattern formation Source: Ensembl
  • regulation of hepatocyte proliferation Source: Ensembl
  • regulation of osteoblast differentiation Source: Ensembl
  • regulation of smoothened signaling pathway Source: UniProtKB
  • response to wounding Source: Ensembl
  • smoothened signaling pathway Source: UniProtKB
  • smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation Source: Ensembl
  • spermatogenesis Source: Ensembl
  • transcription, DNA-templated Source: UniProtKB-KW
  • ventral midline development Source: Ensembl
View the complete GO annotation on QuickGO ...

Keywordsi

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

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

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein GLI1
Alternative name(s):
Glioma-associated oncogene
Oncogene GLI
Gene namesi
Name:GLI1
Synonyms:GLI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111087.9
HGNCiHGNC:4317 GLI1
MIMi165220 gene
neXtProtiNX_P08151

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

Cytoplasm, Nucleus

Pathology & Biotechi

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi2735
MalaCardsiGLI1
OpenTargetsiENSG00000111087
PharmGKBiPA28720

Chemistry databases

ChEMBLiCHEMBL5461

Polymorphism and mutation databases

BioMutaiGLI1
DMDMi121323

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000471971 – 1106Zinc finger protein GLI1Add BLAST1106

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei518N6-acetyllysine1 Publication1
Cross-linki1003Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

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

MaxQBiP08151
PaxDbiP08151
PeptideAtlasiP08151
PRIDEiP08151
ProteomicsDBi52074
52075 [P08151-2]

PTM databases

iPTMnetiP08151
PhosphoSitePlusiP08151

Expressioni

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

Inductioni

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

Gene expression databases

BgeeiENSG00000111087
CleanExiHS_GLI1
ExpressionAtlasiP08151 baseline and differential
GenevisibleiP08151 HS

Organism-specific databases

HPAiCAB009460
HPA065172
HPA068903

Interactioni

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

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108997, 69 interactors
ComplexPortaliCPX-56 GLI1-SUFU complex
DIPiDIP-32536N
ELMiP08151
IntActiP08151, 41 interactors
MINTiP08151
STRINGi9606.ENSP00000228682

Chemistry databases

BindingDBiP08151

Structurei

Secondary structure

11106
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi120 – 123Combined sources4
Helixi249 – 259Combined sources11
Beta strandi261 – 263Combined sources3
Turni276 – 279Combined sources4
Helixi285 – 291Combined sources7
Helixi293 – 296Combined sources4
Helixi315 – 324Combined sources10
Beta strandi341 – 346Combined sources6
Helixi349 – 354Combined sources6
Turni367 – 369Combined sources3
Beta strandi372 – 375Combined sources4
Helixi376 – 381Combined sources6
Turni382 – 384Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliP08151
SMRiP08151
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP08151

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Compositional biasi1038 – 1055Asp/Glu-rich (acidic)Add BLAST18

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

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00900000140802
HOGENOMiHOG000290688
HOVERGENiHBG080668
InParanoidiP08151
KOiK16797
OMAiVTKRHRG
OrthoDBiEOG091G01XS
PhylomeDBiP08151
TreeFamiTF350216

Family and domain databases

InterProiView protein in InterPro
IPR032850 GLI1
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR19818:SF2 PTHR19818:SF2, 1 hit
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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.
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.

Note: No experimental confirmation available. Gene prediction based on partial mRNA and EST data.
Show »
Length:978
Mass (Da):104,627
Checksum:i947FFF4234D96403
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1106A → AS in ACX35434 (PubMed:19706761).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035557210P → A in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035558514T → I in a breast cancer sample; somatic mutation. 1 Publication1
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
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:
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]
UniGeneiHs.632702

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGLI1_HUMAN
AccessioniPrimary (citable) accession number: P08151
Secondary accession number(s): D0EUY3
, E9PQQ9, F5H6H8, Q8TDN9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: June 20, 2018
This is version 205 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

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