• Gene id: 3110

Gene Summary

• Gene Symbol: MNX1   Gene   UCSC   Ensembl
• Aliases: HB9, HLXB9, HOXHB9, SCRA1
• Gene name: motor neuron and pancreas homeobox 1
• Alternate names: motor neuron and pancreas homeobox protein 1, homeobox HB9, homeobox protein HB9,
• Gene location: 7q36.3 (157010662: 157004852)     Exons: 4     NC_000007.14
• Gene summary(Entrez): This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding dif
• OMIM: 603008

Protein Summary

• Protein general information: P50219  
  • Name: Motor neuron and pancreas homeobox protein 1 (Homeobox protein HB9)
  • Length: 401  
  • Mass: 40569
  • Tissue specificity: Expressed in lymphoid and pancreatic tissues.
• Sequence:

  MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSPASSEPPAAPADRLRA
  ESPSPPRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPGAAAAAAAAAAAAAAGGLALGLHPGGAQGGA
  GLPAQAALYGHPVYGYSAAAAAAALAGQHPALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPK
  MPDFNSQAQSNLLGKCRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNRRMKWKRSK
  KAKEQAAQEAEKQKGGGGGAGKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSNGAS
  VHAASSDCSSEDDSPPPRPSHQPAPQ

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  IPR042768  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000252971
• Other Databases: GeneCards:  MNX1  Malacards:  MNX1

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:0021520	spinal cord motor neuron cell fate specification	IBA	biological process
GO:0007417	central nervous system development	IBA	biological process
GO:0048812	neuron projection morphogenesis	IBA	biological process
GO:0031018	endocrine pancreas development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0021520	spinal cord motor neuron cell fate specification	IEA	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:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0006959	humoral immune response	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Currarino syndrome	KEGG:H00463
Currarino syndrome	KEGG:H00463
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray