• Gene id: 2636

Gene Summary

• Gene Symbol: GBX1   Gene   UCSC   Ensembl
• Aliases: Huh-17
• Gene name: gastrulation brain homeobox 1
• Alternate names: homeobox protein GBX-1, gastrulation and brain-specific homeobox protein 1,
• Gene location: 7q36.1 (151167547: 151148588)     Exons: 2     NC_000007.14
• OMIM: 603354

Protein Summary

• Protein general information: Q14549  
  • Name: Homeobox protein GBX 1 (Gastrulation and brain specific homeobox protein 1)
  • Length: 363  
  • Mass: 37629
• Sequence:

  MQRAGGGSAPGGNGGGGGGGPGTAFSIDSLIGPPPPRSGHLLYTGYPMFMPYRPLVLPQALAPAPLPAGLPPLAP
  LASFAGRLTNTFCAGLGQAVPSMVALTTALPSFAEPPDAFYGPQELAAAAAAAAATAARNNPEPGGRRPEGGLEA
  DELLPAREKVAEPPPPPPPHFSETFPSLPAEGKVYSSDEEKLEASAGDPAGSEQEEEGSGGDSEDDGFLDSSAGG
  PGALLGPKPKLKGSLGTGAEEGAPVTAGVTAPGGKSRRRRTAFTSEQLLELEKEFHCKKYLSLTERSQIAHALKL
  SEVQVKIWFQNRRAKWKRIKAGNVSSRSGEPVRNPKIVVPIPVHVNRFAVRSQHQQMEQGARP

• Structural information:
  • Interpro: IPR031251  IPR042982  IPR009057  IPR017970  IPR001356   IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 2M34 2ME0 2ME6 2N8G
  • PDBsum: 2M34 2ME0 2ME6 2N8G
  • STRING: ENSP00000297537
• Other Databases: GeneCards:  GBX1  Malacards:  GBX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0030902	hindbrain development	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0021549	cerebellum development	IBA	biological process
GO:0051960	regulation of nervous system development	IBA	biological process
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:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0048663	neuron fate commitment	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0097374	sensory neuron axon guidance	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0019230	proprioception	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray