• Gene id: 83881

Gene Summary

• Gene Symbol: MIXL1   Gene   UCSC   Ensembl
• Aliases: MILD1, MIX, MIXL
• Gene name: Mix paired-like homeobox
• Alternate names: homeobox protein MIXL1, MIX1 homeobox-like protein 1, Mix-like homeobox protein 1, homeodomain protein MIX, mix.1 homeobox-like protein,
• Gene location: 1q42.12 (226223663: 226227059)     Exons: 2     NC_000001.11
• Gene summary(Entrez): Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008]
• OMIM: 609852

Protein Summary

• Protein general information: Q9H2W2  
  • Name: Homeobox protein MIXL1 (Homeodomain protein MIX) (hMix) (MIX1 homeobox like protein 1) (Mix.1 homeobox like protein)
  • Length: 232  
  • Mass: 24659
  • Tissue specificity: Restricted to progenitors and secondary lymph tissues. In normal hematopoiesis, it is restricted to immature B- and T-lymphoid cells. Present in differentiating embryonic stem cells (at protein level). {ECO
• Sequence:

  MATAESRALQFAEGAAFPAYRAPHAGGALLPPPSPAAALLPAPPAGPGPATFAGFLGRDPGPAPPPPASLGSPAP
  PKGAAAPSASQRRKRTSFSAEQLQLLELVFRRTRYPDIHLRERLAALTLLPESRIQVWFQNRRAKSRRQSGKSFQ
  PLARPEIILNHCAPGTETKCLKPQLPLEVDVNCLPEPNGVGGGISDSSSQGQNFETCSPLSEDIGSKLDSWEEHI
  FSAFGNF

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR042917  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000442439
• Other Databases: GeneCards:  MIXL1  Malacards:  MIXL1

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:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0007492	endoderm development	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	IEA	molecular function
GO:0001706	endoderm formation	IEA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007369	gastrulation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:1901533	negative regulation of hematopoietic progenitor cell differentiation	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0007492	endoderm development	IEA	biological process
GO:0035987	endodermal cell differentiation	IEA	biological process
GO:0042074	cell migration involved in gastrulation	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:2000382	positive regulation of mesoderm development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0007492	endoderm development	ISS	biological process
GO:0035987	endodermal cell differentiation	ISS	biological process
GO:2000382	positive regulation of mesoderm development	ISS	biological process
GO:0000790	nuclear chromatin	ISS	cellular component
GO:0002244	hematopoietic progenitor cell differentiation	ISS	biological process
GO:0007369	gastrulation	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0048565	digestive tract development	ISS	biological process
GO:1901533	negative regulation of hematopoietic progenitor cell differentiation	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
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)