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

Gene ID: 2735, updated on 6-Jul-2025
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; AllianceGenome:HGNC:4317
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
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See GLI1 in Genome Data Viewer
Location:
12q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57459785..57472268)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57428074..57440557)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57853568..57866051)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene inhibin subunit beta C Neighboring gene Sharpr-MPRA regulatory region 358 Neighboring gene uncharacterized LOC124902947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4581 Neighboring gene inhibin subunit beta E Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57869684-57870573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6538 Neighboring gene Rho GTPase activating protein 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6542 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:57880828-57881775 and GRCh37_chr12:57881776-57882722 Neighboring gene methionyl-tRNA synthetase 1 Neighboring gene Sharpr-MPRA regulatory region 11633 Neighboring gene uncharacterized LOC124903093

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. GLI1 promotes cancer stemness through intracellular signaling pathway PI3K/Akt/NFκB in colorectal adenocarcinoma. Yang Z, et al. Exp Cell Res, 2018 Dec 15. PMID 30321514
  2. Study on the skip metastasis of axillary lymph nodes in breast cancer and their relation with Gli1 expression. Wang H, et al. Tumour Biol, 2012 Dec. PMID 22797820
  3. Targeting the hedgehog signal transduction pathway at the level of GLI inhibits neuroblastoma cell growth in vitro and in vivo. Wickström M, et al. Int J Cancer, 2013 Apr 1. PMID 22949014
  4. RNA editing of the GLI1 transcription factor modulates the output of Hedgehog signaling. Shimokawa T, et al. RNA Biol, 2013 Feb. PMID 23324600, Free PMC Article
  5. Expression of the glioma-associated oncogene homolog 1 (gli1) in advanced serous ovarian cancer is associated with unfavorable overall survival. Ciucci A, et al. PLoS One, 2013. PMID 23555905, Free PMC Article

See all (466) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Combined Immunohistochemical Expression of GLI1 and BCOR in Synovial Sarcomas for the Identification of Three Risk Groups and Their Prognostic Outcomes: A Study of 52 Patients.
    Title: The Combined Immunohistochemical Expression of GLI1 and BCOR in Synovial Sarcomas for the Identification of Three Risk Groups and Their Prognostic Outcomes: A Study of 52 Patients.
  2. Tumor-derived GLI1 promotes remodeling of the immune tumor microenvironment in melanoma.
    Title: Tumor-derived GLI1 promotes remodeling of the immune tumor microenvironment in melanoma.
  3. GLI1 Coamplification in Well-Differentiated/Dedifferentiated Liposarcomas: Clinicopathologic and Molecular Analysis of 92 Cases.
    Title: GLI1 Coamplification in Well-Differentiated/Dedifferentiated Liposarcomas: Clinicopathologic and Molecular Analysis of 92 Cases.
  4. GLI1 polymorphisms influence remission rate and prognosis of young de novo acute myeloid leukemia patients treated with cytarabine-based chemotherapy.
    Title: GLI1 polymorphisms influence remission rate and prognosis of young de novo acute myeloid leukemia patients treated with cytarabine-based chemotherapy.
  5. Phosphorylation of human glioma-associated oncogene 1 on Ser937 regulates Sonic Hedgehog signaling in medulloblastoma.
    Title: Phosphorylation of human glioma-associated oncogene 1 on Ser937 regulates Sonic Hedgehog signaling in medulloblastoma.
  6. GLI1-Altered Mesenchymal Tumors.
    Title: GLI1-Altered Mesenchymal Tumors.
  7. Enhanced mitophagy driven by ADAR1-GLI1 editing supports the self-renewal of cancer stem cells in HCC.
    Title: Enhanced mitophagy driven by ADAR1-GLI1 editing supports the self-renewal of cancer stem cells in HCC.
  8. FOXS1 promotes prostate cancer progression through the Hedgehog/Gli1 pathway.
    Title: FOXS1 promotes prostate cancer progression through the Hedgehog/Gli1 pathway.
  9. FUNDC2, a mitochondrial outer membrane protein, mediates triple-negative breast cancer progression via the AKT/GSK3beta/GLI1 pathway.
    Title: FUNDC2, a mitochondrial outer membrane protein, mediates triple-negative breast cancer progression via the AKT/GSK3β/GLI1 pathway.
  10. MALAT1 functions as a transcriptional promoter of MALAT1::GLI1 fusion for truncated GLI1 protein expression in cancer.
    Title: MALAT1 functions as a transcriptional promoter of MALAT1::GLI1 fusion for truncated GLI1 protein expression in cancer.
Submit: New GeneRIF Correction See all GeneRIFs (398)

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 of a biphalangeal thumb
MedGen: C1395852 OMIM: 174400 GeneReviews: Not available
Compare labs
Polydactyly, postaxial, type A8
MedGen: C4748277 OMIM: 618123 GeneReviews: Not available
Compare labs

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
  
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
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables double-stranded DNA 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 sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cerebellar cortex morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in digestive tract morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
  
involved_in epidermal cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within liver regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in liver regeneration IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within 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 
acts_upstream_of_or_within notochord regression IEA
Inferred from Electronic Annotation
more info
  
involved_in osteoblast differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within 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 DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
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 migration 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 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in prostate gland development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within 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
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within response to wounding IEA
Inferred from Electronic Annotation
more info
  
involved_in smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in smoothened signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in smoothened signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in spermatid development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within ventral midline development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of GLI-SUFU complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in axoneme IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
  
located_in ciliary base IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary base TAS
Traceable Author Statement
more info
  
located_in ciliary tip IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary tip TAS
Traceable Author Statement
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
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 cytoplasm IEA
Inferred from Electronic Annotation
more info
  
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
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
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

NEW Try the new Transcript table

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
    D0EUY3, E9PQQ9, F5H6H8, P08151, Q8TDN9
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57459785..57472268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538190.3 → 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_011538189.3 → XP_011536491.1  zinc finger protein GLI1 isoform X1

    See identical proteins and their annotated locations for XP_011536491.1

    UniProtKB/Swiss-Prot
    D0EUY3, E9PQQ9, F5H6H8, P08151, Q8TDN9
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57428074..57440557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371754.1 → XP_054227729.1  zinc finger protein GLI1 isoform X2

  2. XM_054371753.1 → XP_054227728.1  zinc finger protein GLI1 isoform X1

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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