GLI1 GLI family zinc finger 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GLI1provided by HGNC
Official Full Name: GLI family zinc finger 1provided by HGNC
Primary source: HGNC:HGNC:4317
See related: Ensembl:ENSG00000111087 MIM:165220
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GLI; PPD1; PAPA8
Summary: This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Expression: Broad expression in endometrium (RPKM 5.6), testis (RPKM 2.9) and 15 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 12q13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	12	NC_000012.12 (57459785..57472451)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57853918..57866051)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our study provides a basis for blocking GLI1 activity in the prevention and treatment of peritoneal metastases of gastric cancer
Title: GLI1 activation by non-classical pathway integrin αvβ3/ERK1/2 maintains stem cell-like phenotype of multicellular aggregates in gastric cancer peritoneal metastasis.
rs2228226 polymorphism may be a risk factor for congenital heart disease in Chinese Han population, but not rs10783826
Title: Connection of GLI1 variants to congenital heart disease susceptibility: A case-control study.
Our findings suggest that GLI1 amplification...may represent an alternative genetic mechanism of GLI1 oncogenic activation akin to GLI1 fusions, defining the pathogenesis of an emerging group of malignant soft tissue tumors with a distinctive nested growth pattern and variable immunoprofile.
Title: GLI1-amplifications expand the spectrum of soft tissue neoplasms defined by GLI1 gene fusions.
Knockout of GLI1 and CAXII significantly decreased hallmarks of tumor aggressiveness including proliferation and migration.
Title: Carbonic anhydrase XII expression is linked to suppression of Sonic hedgehog ligand expression in triple negative breast cancer cells.
Inhibition of the SHH pathway transcription factor GLI1 in NSCs by a small molecule inhibitor.
Title: Temporal and partial inhibition of GLI1 in neural stem cells (NSCs) results in the early maturation of NSC derived oligodendrocytes in vitro.
MTA1 overexpression in oral squamous carcinoma (OSCC) increased Gli-1 protein level in vitro and in vivo, and MTA1 knockdown decreased Gli-1 protein level in vitro. This in turn decreases E-cadherin and epithelial-mesenchymal transition. The Hh signaling pathway is the downstream target of MTA1 and Gli-1 is critical for the invasion and migration in OSCC.
Title: MTA1 promotes the invasion and migration of oral squamous carcinoma by inducing epithelial-mesenchymal transition via the hedgehog signaling pathway.
Gli1 and Gli2 repress ANO1 by a novel mechanism that is independent of Gli cleavage and that has a role in gastrointestinal function.
Title: Direct repression of anoctamin 1 (ANO1) gene transcription by Gli proteins.
we suggest that CCT2 correlates with Gli-1 expression and is an important determinant of survival in the colorectal cancer (CRC) patients. The results reveal that CCT2 can regulate the folding of Gli-1 in relation to hypoxia in CRC
Title: Activating CCT2 triggers Gli-1 activation during hypoxic condition in colorectal cancer.
Since cancer stem cells (CSCs) are radioresistant and metastasis-initiating cells, we examined TGLI1 for its involvement in breast CSCs and found TGLI1 to transcriptionally activate stemness genes CD44, Nanog, Sox2, and OCT4 leading to CSC renewal, and TGLI1 outcompetes with GLI1 for binding to target promoters.
Title: TGLI1 transcription factor mediates breast cancer brain metastasis via activating metastasis-initiating cancer stem cells and astrocytes in the tumor microenvironment.
Pericytoma with t(7;12) and ACTB-GLI1 fusion could be classified as malignant myopericytoma variants or an emerging translocation-associated sarcoma of uncertain differentiation.
Title: Pericytoma With t(7;12) and ACTB-GLI1 Fusion: Reevaluation of an Unusual Entity and its Relationship to the Spectrum of GLI1 Fusion-related Neoplasms.

Submit: New GeneRIF Correction See all GeneRIFs (333)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
POLYDACTYLY, POSTAXIAL, TYPE A8 MedGen: C4748277 OMIM: 618123 GeneReviews: Not available	Compare labs
Polydactyly, preaxial I MedGen: C1868116 OMIM: 174400 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102952 (e-PCR)
- UniSTS:97286

GLI_108 (e-PCR)
- UniSTS:277285

PMC156767P1 (e-PCR)
- UniSTS:271429

STS-X07384 (e-PCR)
- UniSTS:51623

GDB:384866 (e-PCR)
- UniSTS:157113

D12S1934 (e-PCR)
- UniSTS:12266

Homology

Homologs of the GLI1 gene: The GLI1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 307 organisms have orthologs with human gene GLI1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
RNA polymerase II proximal promoter sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
RNA polymerase II regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
RNA polymerase II regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
chromatin binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
microtubule binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
cerebellar cortex morphogenesis	IEA Inferred from Electronic Annotation more info
digestive tract morphogenesis	TAS Traceable Author Statement more info	PubMed
dorsal/ventral pattern formation	IEA Inferred from Electronic Annotation more info
epidermal cell differentiation	IDA Inferred from Direct Assay more info	PubMed
liver regeneration	IEA Inferred from Electronic Annotation more info
lung development	IEA Inferred from Electronic Annotation more info
negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
notochord regression	IEA Inferred from Electronic Annotation more info
osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
pituitary gland development	IEA Inferred from Electronic Annotation more info
positive regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cardiac muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell cycle G1/S phase transition	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
prostate gland development	IEA Inferred from Electronic Annotation more info
proximal/distal pattern formation	IEA Inferred from Electronic Annotation more info
regulation of hepatocyte proliferation	IEA Inferred from Electronic Annotation more info
regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
regulation of smoothened signaling pathway	TAS Traceable Author Statement more info	PubMed
response to wounding	IEA Inferred from Electronic Annotation more info
smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
smoothened signaling pathway	TAS Traceable Author Statement more info	PubMed
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA Inferred from Electronic Annotation more info
spermatogenesis	IEA Inferred from Electronic Annotation more info
ventral midline development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
axoneme	IEA Inferred from Electronic Annotation more info
ciliary base	TAS Traceable Author Statement more info
ciliary tip	TAS Traceable Author Statement more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger protein GLI1

Names: GLI-Kruppel family member GLI1; glioma-associated oncogene 1; glioma-associated oncogene homolog 1 (zinc finger protein); oncogene GLI

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029564.1 RefSeqGene

Range

4651..17134

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001160045.1 → NP_001153517.1 zinc finger protein GLI1 isoform 2

See identical proteins and their annotated locations for NP_001153517.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) omits the first two coding exons, compared to variant 1, resulting in transcription initiation from an internal AUG site and a N-terminally truncated protein isoform (2), also know as GLI1DeltaN. This variant reflects the transcript and protein described by Shimokawa (PubMed ID 18378682).

Source sequence(s)

AC022506, AK297899, BC013000

Consensus CDS

CCDS53807.1

UniProtKB/Swiss-Prot

P08151

UniProtKB/TrEMBL

B4DNF7

Related

ENSP00000437607.1, ENST00000543426.5

Conserved Domains (3) summary

sd00017
Location:175 → 197

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:189 → 216

zf-H2C2_2; Zinc-finger double domain

pfam16159
Location:109 → 137

FOXP-CC; FOXP coiled-coil domain
NM_001167609.1 → NP_001161081.1 zinc finger protein GLI1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame segment in the 5' coding region, compared to variant 1, resulting in a shorter protein isoform (3), also known as tGLI1. This variant reflects the transcript and protein described by Lo (PubMed ID 19706761).

Source sequence(s)

AC022506

Consensus CDS

CCDS53806.1

UniProtKB/Swiss-Prot

P08151

Related

ENSP00000441006.1, ENST00000546141.5

Conserved Domains (3) summary

sd00017
Location:262 → 284

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:276 → 303

zf-H2C2_2; Zinc-finger double domain

pfam16159
Location:196 → 224

FOXP-CC; FOXP coiled-coil domain
NM_005269.3 → NP_005260.1 zinc finger protein GLI1 isoform 1

See identical proteins and their annotated locations for NP_005260.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the full length protein (isoform 1).

Source sequence(s)

AC022506, BC013000, X07384

Consensus CDS

CCDS8940.1

UniProtKB/Swiss-Prot

P08151

Related

ENSP00000228682.2, ENST00000228682.7

Conserved Domains (3) summary

sd00017
Location:303 → 325

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:317 → 344

zf-H2C2_2; Zinc-finger double domain

pfam16159
Location:237 → 265

FOXP-CC; FOXP coiled-coil domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p13 Primary Assembly

Range

57459785..57472451

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538190.2 → XP_011536492.1 zinc finger protein GLI1 isoform X2

Conserved Domains (4) summary

COG5048
Location:291 → 368

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:303 → 325

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:317 → 344

zf-H2C2_2; Zinc-finger double domain

pfam16159
Location:237 → 265

FOXP-CC; FOXP coiled-coil domain
XM_011538189.2 → XP_011536491.1 zinc finger protein GLI1 isoform X1

See identical proteins and their annotated locations for XP_011536491.1

UniProtKB/Swiss-Prot

P08151

Conserved Domains (3) summary

sd00017
Location:303 → 325

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:317 → 344

zf-H2C2_2; Zinc-finger double domain

pfam16159
Location:237 → 265

FOXP-CC; FOXP coiled-coil domain