GLI1 (GLI family zinc finger 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2735
Gene name Gene Name - the full gene name approved by the HGNC.
GLI family zinc finger 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLI1
Synonyms (NCBI Gene) Gene synonyms aliases
GLI, PAPA8, PPD1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs748321474 C>A,T Pathogenic Coding sequence variant, 5 prime UTR variant, stop gained, synonymous variant
rs1309855392 G>A Pathogenic Coding sequence variant, stop gained
rs1565601979 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT000530 hsa-miR-324-5p Review, Luciferase reporter assay, Western blot 20216554
MIRT000350 hsa-miR-125b-5p Luciferase reporter assay 18756266
MIRT000530 hsa-miR-324-5p Luciferase reporter assay 18756266
MIRT000082 hsa-miR-326 Luciferase reporter assay 18756266
MIRT017728 hsa-miR-335-5p Microarray 18185580
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
SMAD2 Unknown 24739390
SMAD4 Unknown 24739390
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(80)
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription cis-regulatory region binding IDA 17035233
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 18298960
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
165220 4317 ENSG00000111087
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P08151
Protein name Zinc finger protein GLI1 (Glioma-associated oncogene) (Oncogene GLI)
Protein function Acts as a transcriptional activator (PubMed:10806483, PubMed:19706761, PubMed:19878745, PubMed:24076122, PubMed:24217340, PubMed:24311597). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:24217340, PubMed:8378770). Re
PDB 2GLI , 4BLB , 4KMD , 5OM0 , 7T91
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 268 → 295 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 301 → 325 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 362 → 387 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Detected in testis (at protein level) (PubMed:2105456). Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract (PubMed:19878745). Isoform 1 is detec
Sequence 
MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEGLSGPPFCHQANLMSGPHSYGPARETN
SCTEGPLFSSPRSAVKLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGS
YGHLSIGTMSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLK
SELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREEKREPESVYETDCRWD
GCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKP
HKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEK
PYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAPSISTVEPKREREG
GPIREESRLTVPEGAMKPQPSPGAQSSCSSDHSPAGSAANTDSGVEMTGNAGGSTEDLSS
LDEGPCIAGTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLE
RRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLMPAQHYLLRARYASARGGG
TSPTAASSLDRIGGLPMPPWRSRAEYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSL
GCVHTPPTVAGGGQNFDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNP
YMDFPPTDTLGYGGPEGAAAEPYGARGPGSLPLGPGPPTNYGPNPCPQQASYPDPTQETW
GEFPSHSGLYPGPKALGGTYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEG
PPHPQPLFSHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCN
YVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHK
SGSYPTPSPCHENFVVGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLG
GGPALYPPPEGQVCNPLDSLDLDNTQLDFVAILDEPQGLSPPPSHDQRGSSGHTPPPSGP
PNMAVGNMSVLLRSLPGETEFLNSSA
Sequence length 1106
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  cAMP signaling pathway
Hedgehog signaling pathway
Pathways in cancer
Basal cell carcinoma 		  Degradation of GLI1 by the proteasome
Hedgehog 'off' state
Hedgehog 'on' state
GLI proteins bind promoters of Hh responsive genes to promote transcription
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Polydactyly polydactyly, postaxial, type a8 rs1309855392, rs1565601979, rs748321474 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bardet-Biedl Syndrome bardet-biedl syndrome N/A N/A ClinVar
Ellis-Van Creveld Syndrome Ellis-van Creveld syndrome N/A N/A GenCC
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (185)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 16810741, 17461467, 25134527
Adenocarcinoma of Lung Associate 25103784
Adnexal Diseases Associate 35387638
Ameloblastoma Associate 35863182
Arthritis Rheumatoid Associate 24741597
Asthma Associate 39643224
Astrocytoma Associate 21059263
Basal Cell Nevus Syndrome Associate 31758086
Basaloid Follicular Hamartoma Syndrome Generalized Autosomal Dominant Associate 35972041
Brachydactyly type A1 Associate 30651074