• Gene id: 127343

Gene Summary

• Gene Symbol: DMBX1   Gene   UCSC   Ensembl
• Aliases: MBX, OTX3, PAXB
• Gene name: diencephalon/mesencephalon homeobox 1
• Alternate names: diencephalon/mesencephalon homeobox protein 1, homeoprotein MBX, orthodenticle homolog 3, paired-like homeobox protein DMBX1,
• Gene location: 1p33 (46489835: 46516215)     Exons: 6     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct i
• OMIM: 602838

Protein Summary

• Protein general information: Q8NFW5  
  • Name: Diencephalon/mesencephalon homeobox protein 1 (Orthodenticle homolog 3) (Paired like homeobox protein DMBX1)
  • Length: 382  
  • Mass: 41198
• Sequence:

  MQHYGVNGYSLHAMNSLSAMYNLHQQAAQQAQHAPDYRPSVHALTLAERLAGCTFQDIILEARYGSQHRKQRRSR
  TAFTAQQLEALEKTFQKTHYPDVVMRERLAMCTNLPEARVQVWFKNRRAKFRKKQRSLQKEQLQKQKEAEGSHGE
  GKAEAPTPDTQLDTEQPPRLPGSDPPAELHLSLSEQSASESAPEDQPDREEDPRAGAEDPKAEKSPGADSKGLGC
  KRGSPKADSPGSLTITPVAPGGGLLGPSHSYSSSPLSLFRLQEQFRQHMAATNNLVHYSSFEVGGPAPAAAAAAA
  AVPYLGVNMAPLGSLHCQSYYQSLSAAAAAHQGVWGSPLLPAPPAGLAPASATLNSKTTSIENLRLRAKQHAASL
  GLDTLPN

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR003654  
  • Prosite: PS00027 PS50071 PS50803
  • CDD: cd00086
  • STRING: ENSP00000353132
• Other Databases: GeneCards:  DMBX1  Malacards:  DMBX1

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: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:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007417	central nervous system development	IEA	biological process
GO:0008343	adult feeding behavior	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0048589	developmental growth	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0048589	developmental growth	ISS	biological process
GO:0003677	DNA binding	ISS	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0007420	brain development	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0007417	central nervous system development	ISS	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