• Gene id: 1602

Gene Summary

• Gene Symbol: DACH1   Gene   UCSC   Ensembl
• Aliases: DACH
• Gene name: dachshund family transcription factor 1
• Alternate names: dachshund homolog 1, dac homolog,
• Gene location: 13q21.33 (71868067: 71437965)     Exons: 15     NC_000013.11
• Gene summary(Entrez): This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Droso
• OMIM: 603803

Protein Summary

• Protein general information: Q9UI36  
  • Name: Dachshund homolog 1 (Dach1)
  • Length: 758  
  • Mass: 78562
  • Tissue specificity: Widely expressed. Isoform 2 is found in brain, heart, kidney, liver, leukocytes and spleen. Isoform 3 is found in liver and heart. Isoform 4 is found in spleen. {ECO
• Sequence:

  MAVPAALIPPTQLVPPQPPISTSASSSGTTTSTSSATSSPAPSIGPPASSGPTLFRPEPIASAAAAAATVTSTGG
  GGGGGGSGGGGGSSGNGGGGGGGGGGSNCNPNLAAASNGSGGGGGGISAGGGVASSTPINASTGSSSSSSSSSSS
  SSSSSSSSSSSSSCGPLPGKPVYSTPSPVENTPQNNECKMVDLRGAKVASFTVEGCELICLPQAFDLFLKHLVGG
  LHTVYTKLKRLEITPVVCNVEQVRILRGLGAIQPGVNRCKLISRKDFETLYNDCTNASSRPGRPPKRTQSVTSPE
  NSHIMPHSVPGLMSPGIIPPTGLTAAAAAAAAATNAAIAEAMKVKKIKLEAMSNYHASNNQHGADSENGDMNSSV
  GSSDGSWDKETLPSSPSQGPQASITHPRMPGARSLPLSHPLNHLQQSHLLPNGLELPFMMMPHPLIPVSLPPASV
  TMAMSQMNHLSTIANMAAAAQVQSPPSRVETSVIKERVPDSPSPAPSLEEGRRPGSHPSSHRSSSVSSSPARTES
  SSDRIPVHQNGLSMNQMLMGLSPNVLPGPKEGDLAGHDMGHESKRMHIEKDETPLSTPTARDSLDKLSLTGHGQP
  LPPGFPSPFLFPDGLSSIETLLTNIQGLLKVAIDNARAQEKQVQLEKTELKMDFLRERELRETLEKQLAMEQKNR
  AIVQKRLKKEKKAKRKLQEALEFETKRREQAEQTLKQAASTDSLRVLNDSLTPEIEADRSGGRTDAERTIQDGRL
  YLKTTVMY

• Structural information:
  • Interpro: IPR009061  IPR003380  IPR037000  
  • PDB: 1L8R
  • PDBsum: 1L8R
  • STRING: ENSP00000482245
• Other Databases: GeneCards:  DACH1  Malacards:  DACH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000279	negative regulation of DNA biosynthetic process	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
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:0048147	negative regulation of fibroblast proliferation	IEA	biological process
GO:0033262	regulation of nuclear cell cycle DNA replication	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001967	suckling behavior	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060244	negative regulation of cell proliferation involved in contact inhibition	IEA	biological process
GO:0046545	development of primary female sexual characteristics	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0010944	negative regulation of transcription by competitive promoter binding	IMP	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881