• Gene id: 4601

Gene Summary

• Gene Symbol: MXI1   Gene   UCSC   Ensembl
• Aliases: MAD2, MXD2, MXI, bHLHc11
• Gene name: MAX interactor 1, dimerization protein
• Alternate names: max-interacting protein 1, MAX dimerization protein 2, Max-related transcription factor, class C basic helix-loop-helix protein 11,
• Gene location: 10q25.2 (110207604: 110287364)     Exons: 8     NC_000010.11
• Gene summary(Entrez): Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regu
• OMIM: 600020

Protein Summary

• Protein general information: P50539  
  • Name: Max interacting protein 1 (Max interactor 1) (Class C basic helix loop helix protein 11) (bHLHc11)
  • Length: 228  
  • Mass: 26062
  • Tissue specificity: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.
• Sequence:

  MERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNEL
  EKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKKLEEAERKSQHQLENLEREQRFLKWRLEQLQGP
  QEMERIRMDSIGSTISSDRSDSEREEIEVDVESTEFSHGEVDNISTTSISDIDDHSSLPSIGSDEGYSSASVKLS
  FTS

• Structural information:
  • Protein Domains: (67..11-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • DIP: 205
  • STRING: ENSP00000331152
• Other Databases: GeneCards:  MXI1  Malacards:  MXI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	contributes to
GO:0090575	RNA polymerase II transcription regulator complex	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	contributes to
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0042994	cytoplasmic sequestering of transcription factor	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Prostate cancer	PMID:7773287
neurofibrosarcoma	PMID:10470286
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R