Zinc finger protein GLI1 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot P08151 (GLI1_HUMAN)

Last modified November 3, 2009. Version 115. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Zinc finger protein GLI1
Alternative name(s):
    Glioma-associated oncogene
    Oncogene GLI

Gene names

Name:	GLI1
Synonyms:	GLI

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	1106 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	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.4
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. Ref.4
Tissue specificity	Testis, myometrium and fallopian tube.
Induction	Amplified in glioblastoma cells.
Involvement in disease	Defects in GLI1 may be a cause of breast cancer.
Sequence similarities	Belongs to the GLI C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers.

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Ontologies

Keywords
Biological process	Differentiation Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Proto-oncogene
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Developmental protein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	epidermal cell differentiation Inferred from direct assay. Source: UniProtKB osteoblast differentiation Inferred from direct assay. Source: UniProtKB positive regulation of DNA replication Inferred from direct assay. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay. Source: UniProtKB regulation of smoothened signaling pathway Traceable author statement. Source: UniProtKB transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay. Source: UniProtKB nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	DNA binding Inferred from direct assay. Source: MGI transcription activator activity Inferred from direct assay. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct	Notes
STK36	Q9NRP7	1	EBI-308084,EBI-863797
SUFU	Q9UMX1-1	1	EBI-308084,EBI-740615
SUFU	Q9UMX1-2	2	EBI-308084,EBI-740621
Zic1	P46684	2	EBI-308084,EBI-308006	From a different organism.
Zic2	Q62520	1	EBI-308084,EBI-308076	From a different organism.

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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

C2H2-type 1

Zinc finger

268 – 295

C2H2-type 2

Zinc finger

301 – 325

C2H2-type 3

Zinc finger

331 – 356

C2H2-type 4

Zinc finger

362 – 387

C2H2-type 5

Compositional bias

1038 – 1055

Asp/Glu-rich (acidic)

Natural variations

Natural variant

210

P → A in a breast cancer sample; somatic mutation. Ref.7

VAR_035557

Natural variant

514

T → I in a breast cancer sample; somatic mutation. Ref.7

VAR_035558

Natural variant

817

E → Q in a breast cancer sample; somatic mutation. Ref.7

VAR_035559

Natural variant

884

D → A

VAR_015114

Natural variant

933

G → D: dbSNP rs2228224. Ref.2 Ref.5

VAR_015115

Natural variant

1012

G → V: dbSNP rs2229300.

VAR_052723

Natural variant

1100

E → Q: dbSNP rs2228226. Ref.2 Ref.5

VAR_015116

Secondary structure

1106

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

P08151-1 [UniParc].

Last modified August 1, 1988. Version 1.
Checksum: E29B11D1A6CD3D91
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FASTA

1,106

117,904

        10         20         30         40         50         60 
MFNSMTPPPI SSYGEPCCLR PLPSQGAPSV GTEGLSGPPF CHQANLMSGP HSYGPARETN 

        70         80         90        100        110        120 
SCTEGPLFSS PRSAVKLTKK RALSISPLSD ASLDLQTVIR TSPSSLVAFI NSRCTSPGGS 

       130        140        150        160        170        180 
YGHLSIGTMS PSLGFPAQMN HQKGPSPSFG VQPCGPHDSA RGGMIPHPQS RGPFPTCQLK 

       190        200        210        220        230        240 
SELDMLVGKC REEPLEGDMS SPNSTGIQDP LLGMLDGRED LEREEKREPE SVYETDCRWD 

       250        260        270        280        290        300 
GCSQEFDSQE QLVHHINSEH IHGERKEFVC HWGGCSRELR PFKAQYMLVV HMRRHTGEKP 

       310        320        330        340        350        360 
HKCTFEGCRK SYSRLENLKT HLRSHTGEKP YMCEHEGCSK AFSNASDRAK HQNRTHSNEK 

       370        380        390        400        410        420 
PYVCKLPGCT KRYTDPSSLR KHVKTVHGPD AHVTKRHRGD GPLPRAPSIS TVEPKREREG 

       430        440        450        460        470        480 
GPIREESRLT VPEGAMKPQP SPGAQSSCSS DHSPAGSAAN TDSGVEMTGN AGGSTEDLSS 

       490        500        510        520        530        540 
LDEGPCIAGT GLSTLRRLEN LRLDQLHQLR PIGTRGLKLP SLSHTGTTVS RRVGPPVSLE 

       550        560        570        580        590        600 
RRSSSSSSIS SAYTVSRRSS LASPFPPGSP PENGASSLPG LMPAQHYLLR ARYASARGGG 

       610        620        630        640        650        660 
TSPTAASSLD RIGGLPMPPW RSRAEYPGYN PNAGVTRRAS DPAQAADRPA PARVQRFKSL 

       670        680        690        700        710        720 
GCVHTPPTVA GGGQNFDPYL PTSVYSPQPP SITENAAMDA RGLQEEPEVG TSMVGSGLNP 

       730        740        750        760        770        780 
YMDFPPTDTL GYGGPEGAAA EPYGARGPGS LPLGPGPPTN YGPNPCPQQA SYPDPTQETW 

       790        800        810        820        830        840 
GEFPSHSGLY PGPKALGGTY SQCPRLEHYG QVQVKPEQGC PVGSDSTGLA PCLNAHPSEG 

       850        860        870        880        890        900 
PPHPQPLFSH YPQPSPPQYL QSGPYTQPPP DYLPSEPRPC LDFDSPTHST GQLKAQLVCN 

       910        920        930        940        950        960 
YVQSQQELLW EGGGREDAPA QEPSYQSPKF LGGSQVSPSR AKAPVNTYGP GFGPNLPNHK 

       970        980        990       1000       1010       1020 
SGSYPTPSPC HENFVVGANR ASHRAAAPPR LLPPLPTCYG PLKVGGTNPS CGHPEVGRLG 

      1030       1040       1050       1060       1070       1080 
GGPALYPPPE GQVCNPLDSL DLDNTQLDFV AILDEPQGLS PPPSHDQRGS SGHTPPPSGP 

      1090       1100 
PNMAVGNMSV LLRSLPGETE FLNSSA

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References

	« Hide 'large scale' referencesShow '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: 2832761] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Muscle.
[4]	"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: 10806483] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH STK36 AND SUFU.
[5]	"Identification of polymorphic variants of the GLI1 oncogene." Wang X.Q., Chan N., Rothnagel J.A. J. Invest. Dermatol. 115:328-329(2000) [PubMed: 10951255] [Abstract] Cited for: VARIANTS ALA-884; ASP-933 AND GLN-1100.
[6]	"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: 8378770] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 234-388.
[7]	"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: 16959974] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-210; ILE-514 AND GLN-817.
+	Additional computationally mapped references.

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Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Cross-references

Sequence databases

X07384 mRNA. Translation: CAA30297.1.
AF316573 Genomic DNA. Translation: AAM13391.1.
BC013000 mRNA. Translation: AAH13000.1.

IPI

IPI00027451.

PIR

TVHUGL. S00672.

RefSeq

NP_001153517.1.
NP_005260.1.

UniGene

Hs.632702

3D structure databases

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2GLI	X-ray	2.60	A	234-388	[»]

ModBase

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Protein-protein interaction databases

IntAct

P08151. 5 interactions.

STRING

P08151.

PTM databases

PhosphoSite

P08151.

Proteomic databases

PRIDE

P08151.

Genome annotation databases

Ensembl

ENST00000228682; ENSP00000228682; ENSG00000111087; Homo sapiens. [Genome view]
ENST00000443131; ENSP00000408926; ENSG00000111087; Homo sapiens. [Genome view]

GeneID

2735.

KEGG

hsa:2735.

UCSC

uc001snx.1. human.

Organism-specific databases

CTD

2735.

GeneCards

GC12P056141.

HGNC

HGNC:4317. GLI1.

HPA

CAB009460.

MIM

165220. gene.

Orphanet

360. Glioblastoma.

PharmGKB

PA28720.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P08151.

HOVERGEN

P08151.

OMA

LNPYMDF.

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

InterPro

IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]

Gene3D

G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 4 hits.

Pfam

PF00096. zf-C2H2. 5 hits.
[Graphical view]

ProDom

PD000003. Znf_C2H2. 1 hit.
[Graphical view] [Entries sharing at least one domain]

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 Resources

NextBio

10780.

SOURCE

Search...

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Entry information

Entry name

GLI1_HUMAN

Accession

Primary (citable) accession number: P08151
Secondary accession number(s): Q8TDN9

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1988
Last sequence update:	August 1, 1988
Last modified:	November 3, 2009
This is version 115 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.

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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

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Secondary structure

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents