• Gene id: 2016

Gene Summary

• Gene Symbol: EMX1   Gene   UCSC   Ensembl
• Gene name: empty spiracles homeobox 1
• Alternate names: homeobox protein EMX1, empty spiracles homolog 1, empty spiracles-like protein 1,
• Gene location: 2p13.2 (: )     Exons:     
• OMIM: 600034

Protein Summary

• Protein general information: Q04741  
  • Name: Homeobox protein EMX1 (Empty spiracles homolog 1) (Empty spiracles like protein 1)
  • Length: 257  
  • Mass: 28,039
• Sequence:

  MFQPAAKRGFTIESLVAKDGGTGGGTGGGGAGSHLLAAAASEEPLRPTALNYPHPSAAEAAFVSGFPAAAAAGAG
  RSLYGGPELVFPEAMNHPALTVHPAHQLGASPLQPPHSFFGAQHRDPLHFYPWVLRNRFFGHRFQASDVPQDGLL
  LHGPFARKPKRIRTAFSPSQLLRLERAFEKNHYVVGAERKQLAGSLSLSETQVKVWFQNRRTKYKRQKLEEEGPE
  SEQKKKGSHHINRWRIATKQANGEDIDVTSND

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000258106
• Other Databases: GeneCards:  EMX1  Malacards:  EMX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0021796	cerebral cortex regionalization	IEA	biological process
GO:0021895	cerebral cortex neuron differentiation	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0048854	brain morphogenesis	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0060019	radial glial cell differentiation	IEA	biological process
GO:0060563	neuroepithelial cell differentiation	IEA	biological process
GO:0070445	regulation of oligodendrocyte progenitor proliferation	IEA	biological process
GO:1990138	neuron projection extension	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0021537	telencephalon development	IEA	biological process
GO:0021796	cerebral cortex regionalization	IEA	biological process
GO:0021895	cerebral cortex neuron differentiation	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0048854	brain morphogenesis	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0060019	radial glial cell differentiation	IEA	biological process
GO:0060563	neuroepithelial cell differentiation	IEA	biological process
GO:0070445	regulation of oligodendrocyte progenitor proliferation	IEA	biological process
GO:1990138	neuron projection extension	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Hypogonadotropic hypogonadism	INFBASE: 20887964
Kallmann syndrome (KS)	MIK: 20887964
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Hypogonadotropic hypogonadism	MIK: 20887964
Kallmann syndrome	MIK: 20887964

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20887964	Idiopathic hypogonadotropichypogonadism, Kallmann syndrome	WDR11 missense mutations, including three alterations (A435T, R448Q, and H690Q)		6 hypogonadal subjects	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray