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; 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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Genomic context

Location:: 12q13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57459785..57472268)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57428074..57440557)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57853568..57866051)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Expression of Shh, Gli1, and Cyr61 in Gastric Cancer Predicts Overall Survival of Patients: A Retrospective Study.
Title: Expression of Shh, Gli1, and Cyr61 in Gastric Cancer Predicts Overall Survival of Patients: A Retrospective Study.
Gli1+ Mesenchymal Stem Cells in Bone and Teeth.
Title: Gli1+ Mesenchymal Stem Cells in Bone and Teeth.
ERK2 MAP kinase regulates SUFU binding by multisite phosphorylation of GLI1.
Title: ERK2 MAP kinase regulates SUFU binding by multisite phosphorylation of GLI1.
GSK-3beta suppression upregulates Gli1 to alleviate osteogenesis inhibition in titanium nanoparticle-induced osteolysis.
Title: GSK-3β suppression upregulates Gli1 to alleviate osteogenesis inhibition in titanium nanoparticle-induced osteolysis.
GLI1 is involved in HIF-1alpha-induced migration, invasion, and epithelial-mesenchymal transition in glioma cells.
Title: GLI1 is involved in HIF-1α-induced migration, invasion, and epithelial-mesenchymal transition in glioma cells.
GLI1 activates pro-fibrotic pathways in myelofibrosis fibrocytes.
Title: GLI1 activates pro-fibrotic pathways in myelofibrosis fibrocytes.
A Critical Function for the Transcription Factors GLI1 and GLI2 in the Proliferation and Survival of Human Mast Cells.
Title: A Critical Function for the Transcription Factors GLI1 and GLI2 in the Proliferation and Survival of Human Mast Cells.
Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation.
Title: Two Cases of Temporomandibular Synovial Chondromatosis Associated with <i>Gli1</i> Gene Mutation.
GLI1 Gene Alterations in Neoplasms of the Genitourinary and Gynecologic Tract.
Title: GLI1 Gene Alterations in Neoplasms of the Genitourinary and Gynecologic Tract.
GLI1-altered mesenchymal tumor: a clinicopathological and molecular analysis of ten additional cases of an emerging entity.
Title: GLI1-altered mesenchymal tumor: a clinicopathological and molecular analysis of ten additional cases of an emerging entity.

Submit: New GeneRIF Correction See all GeneRIFs (389)

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
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)

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: 447 organisms have orthologs with human gene GLI1
Orthologs

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 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 negative regulation of hh target transcription factor activity	IDA Inferred from Direct Assay 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 DNA-templated transcription	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 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 spermatid development	IEA Inferred from Electronic Annotation more info
involved_in 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 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

NG_029564.1 RefSeqGene

Range

4651..17134

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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, 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: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

57459785..57472268

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

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