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

Gene ID: 2735, updated on 16-Aug-2021

Summary

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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
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Genomic context

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See GLI1 in Genome Data Viewer
Location:
12q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57459785..57472451)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57853568..57866051)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 358 Neighboring gene inhibin subunit beta E Neighboring gene Rho GTPase activating protein 9 Neighboring gene methionyl-tRNA synthetase 1 Neighboring gene microRNA 6758 Neighboring gene DNA damage inducible transcript 3 Neighboring gene microRNA 616

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Clinical Significance of Glioma-associated Oncogene 1 Expression in Patients With Locally Advanced Gastric Cancer Administered Adjuvant Chemotherapy With S-1 After Curative Surgery. Hashimoto I, et al. Anticancer Res, 2020 Oct. PMID 32988910
  2. Hedgehog signaling enables repair of ribosomal DNA double-strand breaks. Lama-Sherpa TD, et al. Nucleic Acids Res, 2020 Oct 9. PMID 32894284, Free PMC Article
  3. Connection of GLI1 variants to congenital heart disease susceptibility: A case-control study. Guan W, et al. Medicine (Baltimore), 2020 Jul 2. PMID 32629623, Free PMC Article
  4. Up-regulation of GLI1 in vincristine-resistant rhabdomyosarcoma and Ewing sarcoma. Yoon JW, et al. BMC Cancer, 2020 Jun 3. PMID 32493277, Free PMC Article
  5. Gli1 regulates stemness characteristics in gastric adenocarcinoma. Qi W, et al. Diagn Pathol, 2020 May 19. PMID 32430068, Free PMC Article

See all (419) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RSPO2 silence inhibits tumorigenesis of nasopharyngeal carcinoma by ZNRF3/Hedgehog-Gli1 signal pathway.
    Title: RSPO2 silence inhibits tumorigenesis of nasopharyngeal carcinoma by ZNRF3/Hedgehog-Gli1 signal pathway.
  2. The Gli1-Snail axis contributes to Salmonella Typhimurium-induced disruption of intercellular junctions of intestinal epithelial cells.
    Title: The Gli1-Snail axis contributes to Salmonella Typhimurium-induced disruption of intercellular junctions of intestinal epithelial cells.
  3. Regulation of hepatic stellate cell contraction and cirrhotic portal hypertension by Wnt/beta-catenin signalling via interaction with Gli1.
    Title: Regulation of hepatic stellate cell contraction and cirrhotic portal hypertension by Wnt/β-catenin signalling via interaction with Gli1.
  4. Long noncoding RNA LINC00460 promotes the progression of cervical cancer via regulation of the miR-361-3p/Gli1 axis.
    Title: Long noncoding RNA LINC00460 promotes the progression of cervical cancer via regulation of the miR-361-3p/Gli1 axis.
  5. LINC01123 enhances osteosarcoma cell growth by activating the Hedgehog pathway via the miR-516b-5p/Gli1 axis.
    Title: LINC01123 enhances osteosarcoma cell growth by activating the Hedgehog pathway via the miR-516b-5p/Gli1 axis.
  6. Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
    Title: Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
  7. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
    Title: Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
  8. Prognostic Role of Hedgehog-GLI1 Signaling Pathway in Aggressive and Metastatic Breast Cancers.
    Title: Prognostic Role of Hedgehog-GLI1 Signaling Pathway in Aggressive and Metastatic Breast Cancers.
  9. Gli affects the stemness and prognosis of epithelial ovarian cancer via homeobox protein NANOG.
    Title: Gli affects the stemness and prognosis of epithelial ovarian cancer via homeobox protein NANOG.
  10. Cross-talk between GLI transcription factors and FOXC1 promotes T-cell acute lymphoblastic leukemia dissemination.
    Title: Cross-talk between GLI transcription factors and FOXC1 promotes T-cell acute lymphoblastic leukemia dissemination.
Submit: New GeneRIF Correction See all GeneRIFs (363)

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
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Preaxial hand polydactyly
MedGen: C1395852 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables microtubule binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cerebellar cortex morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in digestive tract morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
  
involved_in epidermal cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in liver regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in lung development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in notochord regression IEA
Inferred from Electronic Annotation
more info
  
involved_in osteoblast differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pituitary gland development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cardiac muscle cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell cycle G1/S phase transition IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of smoothened signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in prostate gland development IEA
Inferred from Electronic Annotation
more info
  
involved_in proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of hepatocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of smoothened signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in response to wounding IEA
Inferred from Electronic Annotation
more info
  
involved_in smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in smoothened signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in smoothened signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in ventral midline development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axoneme IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary base TAS
Traceable Author Statement
more info
  
located_in ciliary tip TAS
Traceable Author Statement
more info
  
is_active_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in 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

  1. NG_029564.1 RefSeqGene

    Range
    4651..17134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001160045.2 → 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

  2. NM_001167609.2 → 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

  3. 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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57459785..57472451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P08151.1 GenPept UniProtKB/Swiss-Prot:P08151

Gene LinkOut

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