• Gene id: 2735

Gene Summary

• Gene Symbol: GLI1   Gene   UCSC   Ensembl
• Aliases: GLI, PAPA8, PPD1
• Gene name: GLI family zinc finger 1
• Alternate names: zinc finger protein GLI1, GLI-Kruppel family member GLI1, glioma-associated oncogene 1, glioma-associated oncogene homolog 1 (zinc finger protein), oncogene GLI,
• Gene location: 12q13.3 (57459784: 57472450)     Exons: 13     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 600227

SNPs

rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

Protein Summary

• Protein general information: P08151  
  • Name: Zinc finger protein GLI1 (Glioma associated oncogene) (Oncogene GLI)
  • Length: 1106  
  • Mass: 117904
  • Tissue specificity: Detected in testis (at protein level) (PubMed
• Sequence:

  MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEGLSGPPFCHQANLMSGPHSYGPARETNSCTEGPLFSSPRSAV
  KLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGSYGHLSIGTMSPSLGFPAQMNHQKGPSPSFG
  VQPCGPHDSARGGMIPHPQSRGPFPTCQLKSELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREE
  KREPESVYETDCRWDGCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKP
  HKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEKPYVCKLPGCTKRYTD
  PSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAPSISTVEPKREREGGPIREESRLTVPEGAMKPQPSPGAQSSCSS
  DHSPAGSAANTDSGVEMTGNAGGSTEDLSSLDEGPCIAGTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHT
  GTTVSRRVGPPVSLERRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLMPAQHYLLRARYASARGGG
  TSPTAASSLDRIGGLPMPPWRSRAEYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSLGCVHTPPTVAGGGQN
  FDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNPYMDFPPTDTLGYGGPEGAAAEPYGARGPGS
  LPLGPGPPTNYGPNPCPQQASYPDPTQETWGEFPSHSGLYPGPKALGGTYSQCPRLEHYGQVQVKPEQGCPVGSD
  STGLAPCLNAHPSEGPPHPQPLFSHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCN
  YVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHKSGSYPTPSPCHENFV
  VGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLGGGPALYPPPEGQVCNPLDSLDLDNTQLDFV
  AILDEPQGLSPPPSHDQRGSSGHTPPPSGPPNMAVGNMSVLLRSLPGETEFLNSSA

• Structural information:
  • Interpro: IPR032850  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • PDB: 2GLI 4BLB 4KMD 5OM0
  • PDBsum: 2GLI 4BLB 4KMD 5OM0
  • DIP: 32536
  • STRING: ENSP00000228682
• Other Databases: GeneCards:  GLI1  Malacards:  GLI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0007224	smoothened signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045667	regulation of osteoblast differentiation	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0021696	cerebellar cortex morphogenesis	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0009611	response to wounding	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0007418	ventral midline development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005930	axoneme	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0030850	prostate gland development	IEA	biological process
GO:2000345	regulation of hepatocyte proliferation	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0060032	notochord regression	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0021938	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA	biological process
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0097421	liver regeneration	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:1902808	positive regulation of cell cycle G1/S phase transition	IDA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IDA	biological process
GO:0007224	smoothened signaling pathway	TAS	biological process
GO:0048546	digestive tract morphogenesis	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0009913	epidermal cell differentiation	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IDA	biological process
GO:0045740	positive regulation of DNA replication	IDA	biological process
GO:0008589	regulation of smoothened signaling pathway	TAS	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04024	cAMP signaling pathway
hsa05217	Basal cell carcinoma
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Postaxial polydactyly	KEGG:H01852
Preaxial polydactyly	KEGG:H02332
Postaxial polydactyly	KEGG:H01852
Preaxial polydactyly	KEGG:H02332
Spina bifida	PMID:26446020
Multiple sclerosis	PMID:18991353
nevoid basal cell carcinoma syndrome	PMID:15308259
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq