• Gene id: 148979

Gene Summary

• Gene Symbol: GLIS1   Gene   UCSC   Ensembl
• Gene name: GLIS family zinc finger 1
• Alternate names: zinc finger protein GLIS1, GLI-similar 1,
• Gene location: 1p32.3 (53739170: 53506232)     Exons: 14     NC_000001.11
• Gene summary(Entrez): GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]
• OMIM: 615718

Protein Summary

• Protein general information: Q8NBF1  
  • Name: Zinc finger protein GLIS1 (GLI similar 1)
  • Length: 620  
  • Mass: 65976
• Sequence:

  MAEARTSLSAHCRGPLATGLHPDLDLPGRSLATPAPSCYLLGSEPSSGLGLQPETHLPEGSLKRCCVLGLPPTSP
  ASSSPCASSDVTSIIRSSQTSLVTCVNGLRSPPLTGDLGGPSKRARPGPASTDSHEGSLQLEACRKASFLKQEPA
  DEFSELFGPHQQGLPPPYPLSQLPPGPSLGGLGLGLAGRVVAGRQACRWVDCCAAYEQQEELVRHIEKSHIDQRK
  GEDFTCFWAGCVRRYKPFNARYKLLIHMRVHSGEKPNKCMFEGCSKAFSRLENLKIHLRSHTGEKPYLCQHPGCQ
  KAFSNSSDRAKHQRTHLDTKPYACQIPGCSKRYTDPSSLRKHVKAHSAKEQQVRKKLHAGPDTEADVLTECLVLQ
  QLHTSTQLAASDGKGGCGLGQELLPGVYPGSITPHNGLASGLLPPAHDVPSRHHPLDATTSSHHHLSPLPMAEST
  RDGLGPGLLSPIVSPLKGLGPPPLPPSSQSHSPGGQPFPTLPSKPSYPPFQSPPPPPLPSPQGYQGSFHSIQSCF
  PYGDCYRMAEPAAGGDGLVGETHGFNPLRPNGYHSLSTPLPATGYEALAEASCPTALPQQPSEDVVSSGPEDCGF
  FPNGAFDHCLGHIPSIYTDT

• Structural information:
  • Interpro: IPR030430  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000309653
• Other Databases: GeneCards:  GLIS1  Malacards:  GLIS1

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:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	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:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
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:0045444	fat cell differentiation	IEA	biological process
GO:0010454	negative regulation of cell fate commitment	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	ISS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq