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

Gene ID: 2735, updated on 11-Sep-2019

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

Genomic context

See GLI1 in Genome Data Viewer
Location:
12q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 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_000012.12Genomic 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Basal cell carcinoma, organism-specific biosystem (from KEGG)
    Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Basal cell carcinoma, conserved biosystem (from KEGG)
    Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Degradation of GLI1 by the proteasome, organism-specific biosystem (from REACTOME)
    Degradation of GLI1 by the proteasome, organism-specific biosystemGLI1 is the most divergent of the 3 mammalian GLI transcription factors and lacks a transcriptional repressor domain. Although GLI1 is dispensible for development, the gene is an early transcription...
  • Dopaminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
    Dopaminergic Neurogenesis, organism-specific biosystemConverted to human from mouse: http://www.wikipathways.org/index.php/Pathway:WP1498
  • GLI proteins bind promoters of Hh responsive genes to promote transcription, organism-specific biosystem (from REACTOME)
    GLI proteins bind promoters of Hh responsive genes to promote transcription, organism-specific biosystemGLI proteins are bifunctional DNA-binding proteins that recognize consensus GLI sites 5'-GACCACCC-3' in the promoters of target genes (Kinzler and Vogelstein, 1990). Pathway induction upon ligand-bi...
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog family of proteins are signaling proteins that are crucial for a number of physiological processes including morphogenesis during development. In adult organisms, it is also involved in ...
  • Hedgehog signaling, organism-specific biosystem (from KEGG)
    Hedgehog signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Hedgehog signaling, conserved biosystem (from KEGG)
    Hedgehog signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
    Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
    Hedgehog signaling events mediated by Gli proteins
  • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
    Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Hedgehog signaling pathway, conserved biosystem (from KEGG)
    Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
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 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 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 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 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 IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001160045.1NP_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:175197
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:189216
    zf-H2C2_2; Zinc-finger double domain
    pfam16159
    Location:109137
    FOXP-CC; FOXP coiled-coil domain
  2. NM_001167609.1NP_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:262284
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:276303
    zf-H2C2_2; Zinc-finger double domain
    pfam16159
    Location:196224
    FOXP-CC; FOXP coiled-coil domain
  3. NM_005269.3NP_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:303325
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:317344
    zf-H2C2_2; Zinc-finger double domain
    pfam16159
    Location:237265
    FOXP-CC; FOXP coiled-coil domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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_011538190.2XP_011536492.1  zinc finger protein GLI1 isoform X2

    Conserved Domains (4) summary
    COG5048
    Location:291368
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:303325
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:317344
    zf-H2C2_2; Zinc-finger double domain
    pfam16159
    Location:237265
    FOXP-CC; FOXP coiled-coil domain
  2. XM_011538189.2XP_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:303325
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:317344
    zf-H2C2_2; Zinc-finger double domain
    pfam16159
    Location:237265
    FOXP-CC; FOXP coiled-coil domain
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