• Gene id: 219409

Gene Summary

• Gene Symbol: GSX1   Gene   UCSC   Ensembl
• Aliases: GSH1, Gsh-1
• Gene name: GS homeobox 1
• Alternate names: GS homeobox 1, GS homeo box protein 1, genomic screened homeo box 1, homeobox protein Gsh-1,
• Gene location: 13q12.2 (27792482: 27794767)     Exons: 2     NC_000013.11
• OMIM: 611325

Protein Summary

• Protein general information: Q9H4S2  
  • Name: GS homeobox 1 (Homeobox protein GSH 1)
  • Length: 264  
  • Mass: 27883
• Sequence:

  MPRSFLVDSLVLREAGEKKAPEGSPPPLFPYAVPPPHALHGLSPGACHARKAGLLCVCPLCVTASQLHGPPGPPA
  LPLLKASFPPFGSQYCHAPLGRQHSAVSPGVAHGPAAAAAAAALYQTSYPLPDPRQFHCISVDSSSNQLPSSKRM
  RTAFTSTQLLELEREFASNMYLSRLRRIEIATYLNLSEKQVKIWFQNRRVKHKKEGKGSNHRGGGGGGAGGGGSA
  PQGCKCASLSSAKCSEDDDELPMSPSSSGKDDRDLTVTP

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000304331
• Other Databases: GeneCards:  GSX1  Malacards:  GSX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0007417	central nervous system development	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001162	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0021527	spinal cord association neuron differentiation	IEA	biological process
GO:0021854	hypothalamus development	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0021984	adenohypophysis development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881