P08151 (GLI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 152.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Zinc finger protein GLI1 Alternative name(s): Glioma-associated oncogene Oncogene GLI | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1106 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Acts as a transcriptional activator. May regulate the transcription of specific genes during normal development. 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 and thus cell proliferation and differentiation. Ref.6 Ref.7 |
| Subunit structure | Interacts with KIF7 By similarity. Interacts with ZIC1; the interaction enhances transcription activation. Ref.6 Ref.7 |
| Subcellular location | Cytoplasm. Nucleus. Note: Tethered in the cytoplasm by binding to SUFU. Activation and translocation to the nucleus is promoted by interaction with STK36. Phosphorylation by ULK3 may promote nuclear localization. Translocation to the nucleus is promoted by interaction with ZIC1. Ref.6 Ref.7 Ref.8 |
| Tissue specificity | Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract. Ref.8 |
| Induction | Amplified in glioblastoma cells. |
| Post-translational modification | Phosphorylated in vitro by ULK3. Ref.8 Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1. |
| Sequence similarities | Belongs to the GLI C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ITCH | Q96J02 | 4 | EBI-308084,EBI-1564678 | |
| Numb | Q9QZS3-2 | 4 | EBI-308084,EBI-3896014 | From a different organism. |
| RPS6KB1 | P23443 | 4 | EBI-308084,EBI-1775921 | |
| RPS6KB1 | P23443-2 | 2 | EBI-308084,EBI-6093204 | |
| SUFU | Q9UMX1 | 5 | EBI-308084,EBI-740595 | |
| SUFU | Q9UMX1-1 | 2 | EBI-308084,EBI-740615 | |
| SUFU | Q9UMX1-2 | 4 | EBI-308084,EBI-740621 | |
| Zic1 | P46684 | 2 | EBI-308084,EBI-308006 | From a different organism. |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P08151-1) 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. | ||||||
| Isoform 2 (identifier: P08151-2) 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. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1106 | 1106 | Zinc finger protein GLI1 | PRO_0000047197 | |||||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||||
| Zinc finger | 235 – 260 | 26 | C2H2-type 1 | ||||||||||||||||||||||||||||
| Zinc finger | 268 – 295 | 28 | C2H2-type 2 | ||||||||||||||||||||||||||||
| Zinc finger | 301 – 325 | 25 | C2H2-type 3 | ||||||||||||||||||||||||||||
| Zinc finger | 331 – 356 | 26 | C2H2-type 4 | ||||||||||||||||||||||||||||
| Zinc finger | 362 – 387 | 26 | C2H2-type 5 | ||||||||||||||||||||||||||||
| Region | 1 – 20 | 20 | SNAG domain By similarity | ||||||||||||||||||||||||||||
| Compositional bias | 1038 – 1055 | 18 | Asp/Glu-rich (acidic) | ||||||||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||||||||
| Modified residue | 518 | 1 | N6-acetyllysine Ref.9 | ||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||
| Alternative sequence | 34 – 74 | 41 | Missing in isoform 2. | VSP_042215 | |||||||||||||||||||||||||||
| Natural variant | 210 | 1 | P → A in a breast cancer sample; somatic mutation. Ref.12 | VAR_035557 | |||||||||||||||||||||||||||
| Natural variant | 514 | 1 | T → I in a breast cancer sample; somatic mutation. Ref.12 | VAR_035558 | |||||||||||||||||||||||||||
| Natural variant | 817 | 1 | E → Q in a breast cancer sample; somatic mutation. Ref.12 | VAR_035559 | |||||||||||||||||||||||||||
| Natural variant | 884 | 1 | D → A. Ref.11 | VAR_015114 | |||||||||||||||||||||||||||
| Natural variant | 933 | 1 | G → D. Ref.2 Ref.11 Corresponds to variant rs2228224 [ dbSNP | Ensembl ]. | VAR_015115 | |||||||||||||||||||||||||||
| Natural variant | 1012 | 1 | G → V. Corresponds to variant rs2229300 [ dbSNP | Ensembl ]. | VAR_052723 | |||||||||||||||||||||||||||
| Natural variant | 1100 | 1 | E → Q. Ref.2 Ref.11 Corresponds to variant rs2228226 [ dbSNP | Ensembl ]. | VAR_015116 | |||||||||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||||||||
| Sequence conflict | 1106 | 1 | A → AS in ACX35434. Ref.3 | ||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||
| Helix | 249 – 259 | 11 | |||||||||||||||||||||||||||||
| Beta strand | 261 – 263 | 3 | |||||||||||||||||||||||||||||
| Turn | 276 – 279 | 4 | |||||||||||||||||||||||||||||
| Helix | 285 – 291 | 7 | |||||||||||||||||||||||||||||
| Helix | 293 – 296 | 4 | |||||||||||||||||||||||||||||
| Helix | 315 – 324 | 10 | |||||||||||||||||||||||||||||
| Beta strand | 341 – 346 | 6 | |||||||||||||||||||||||||||||
| Helix | 349 – 354 | 6 | |||||||||||||||||||||||||||||
| Turn | 367 – 369 | 3 | |||||||||||||||||||||||||||||
| Beta strand | 372 – 375 | 4 | |||||||||||||||||||||||||||||
| Helix | 376 – 381 | 6 | |||||||||||||||||||||||||||||
| Turn | 382 – 384 | 3 | |||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The GLI gene is a member of the Kruppel family of zinc finger proteins." Kinzler K.W., Ruppert J.M., Bigner S.H., Vogelstein B. Nature 332:371-374(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Polymorphic variants of the human oncogene GLI1 function similarly." Yoon J.W., Kent P., Clark A., Patterson J., Villavicencio E., Iannaccone P., Walterhouse D. Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ASP-933 AND GLN-1100. |
| [3] | "A novel splice variant of GLI1 that promotes glioblastoma cell migration and invasion." Lo H.W., Zhu H., Cao X., Aldrich A., Ali-Osman F. Cancer Res. 69:6790-6798(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING. |
| [4] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Muscle. |
| [6] | "Gli regulation by the opposing activities of fused and suppressor of fused." Murone M., Luoh S.-L., Stone D., Li W., Gurney A., Armanini M., Grey C., Rosenthal A., de Sauvage F.J. Nat. Cell Biol. 2:310-312(2000) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH STK36 AND SUFU. |
| [7] | "Physical and functional interactions between Zic and Gli proteins." Koyabu Y., Nakata K., Mizugishi K., Aruga J., Mikoshiba K. J. Biol. Chem. 276:6889-6892(2001) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH ZIC1, SUBCELLULAR LOCATION. |
| [8] | "Identification of a novel serine/threonine kinase ULK3 as a positive regulator of Hedgehog pathway." Maloverjan A., Piirsoo M., Michelson P., Kogerman P., Osterlund T. Exp. Cell Res. 316:627-637(2010) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, PHOSPHORYLATION. |
| [9] | "Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation." Canettieri G., Di Marcotullio L., Greco A., Coni S., Antonucci L., Infante P., Pietrosanti L., De Smaele E., Ferretti E., Miele E., Pelloni M., De Simone G., Pedone E.M., Gallinari P., Giorgi A., Steinkuhler C., Vitagliano L., Pedone C. Gulino A.Nat. Cell Biol. 12:132-142(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION AT LYS-518. |
| [10] | "Crystal structure of a five-finger GLI-DNA complex: new perspectives on zinc fingers." Pavletich N.P., Pabo C.O. Science 261:1701-1707(1993) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 234-388. |
| [11] | "Identification of polymorphic variants of the GLI1 oncogene." Wang X.Q., Chan N., Rothnagel J.A. J. Invest. Dermatol. 115:328-329(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ALA-884; ASP-933 AND GLN-1100. |
| [12] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-210; ILE-514 AND GLN-817. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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. | ||||||||||||
| IPI | IPI00027451. | ||||||||||||
| PIR | TVHUGL. S00672. | ||||||||||||
| RefSeq | NP_001153517.1. NM_001160045.1. NP_001161081.1. NM_001167609.1. NP_005260.1. NM_005269.2. | ||||||||||||
| UniGene | Hs.632702. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | P08151. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | P08151. 12 interactions. | ||||||||||||
| MINT | MINT-189932. | ||||||||||||
| STRING | 9606.ENSP00000228682. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P08151. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 121323. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | P08151. | ||||||||||||
| PRIDE | P08151. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000228682; ENSP00000228682; ENSG00000111087. ENST00000528467; ENSP00000434408; ENSG00000111087. ENST00000546141; ENSP00000441006; ENSG00000111087. | ||||||||||||
| GeneID | 2735. | ||||||||||||
| KEGG | hsa:2735. | ||||||||||||
| UCSC | uc001snx.3. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 2735. | ||||||||||||
| GeneCards | GC12P057853. | ||||||||||||
| H-InvDB | HIX0010767. | ||||||||||||
| HGNC | HGNC:4317. GLI1. | ||||||||||||
| HPA | CAB009460. | ||||||||||||
| MIM | 165220. gene. | ||||||||||||
| neXtProt | NX_P08151. | ||||||||||||
| PharmGKB | PA28720. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | COG5048. | ||||||||||||
| HOGENOM | HOG000290688. | ||||||||||||
| HOVERGEN | HBG080668. | ||||||||||||
| InParanoid | P08151. | ||||||||||||
| KO | K16797. | ||||||||||||
| OMA | CPRLEHY. | ||||||||||||
| OrthoDB | EOG4T1HKP. | ||||||||||||
| PhylomeDB | P08151. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Pathway_Interaction_DB | hedgehog_glipathway. Hedgehog signaling events mediated by Gli proteins. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P08151. | ||||||||||||
| Bgee | P08151. | ||||||||||||
| CleanEx | HS_GLI1. | ||||||||||||
| Genevestigator | P08151. | ||||||||||||
| GermOnline | ENSG00000111087. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 3.30.160.60. 5 hits. | ||||||||||||
| InterPro | IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view] | ||||||||||||
| Pfam | PF00096. zf-C2H2. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00355. ZnF_C2H2. 5 hits. [Graphical view] | ||||||||||||
| PROSITE | PS00028. ZINC_FINGER_C2H2_1. 4 hits. PS50157. ZINC_FINGER_C2H2_2. 5 hits. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| BindingDB | P08151. | ||||||||||||
| ChEMBL | CHEMBL5461. | ||||||||||||
| EvolutionaryTrace | P08151. | ||||||||||||
| GenomeRNAi | 2735. | ||||||||||||
| NextBio | 10780. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | GLI1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P08151 Secondary accession number(s): D0EUY3, E9PQQ9, Q8TDN9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
