• Gene id: 85458

Gene Summary

• Gene Symbol: DIXDC1   Gene   UCSC   Ensembl
• Aliases: CCD1
• Gene name: DIX domain containing 1
• Alternate names: dixin, coiled-coil protein DIX1,
• Gene location: 11q23.1 (111927143: 112022652)     Exons: 25     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms.
• OMIM: 611397

Protein Summary

• Protein general information: Q155Q3  
  • Name: Dixin (Coiled coil protein DIX1) (Coiled coil DIX1) (DIX domain containing protein 1)
  • Length: 683  
  • Mass: 77478
  • Tissue specificity: Ubiquitously expressed with higher expression in cardiac and skeletal muscles. {ECO
• Sequence:

  MLACLTRGNLLDVLQEGFNEQQLQAYVAWVNAQLKKRPAVKPVQDLRQDLRDGVILAYLIEIVAGEKLSGVQLSP
  GNQQEMKNNVEKVLQFVASKKIRMHQTSAKDIVDGNLKSIMRLVLALAAHFKPGSSRTVNQGRDSRAPLQSHRPH
  CATAVAQGAAAALADVCHDMSRSGRDVFRYRQRNSSMDEEIENPYWSVRALVQQYEGQQRSPSESSCSSLTSPSP
  IHSAKSESIITQSEEKADFVIIPAEGIENRTEGTDSPLSRDWRPGSPGTYLETSWEEQLLEQQEYLEKEMEEAKK
  MISGLQALLLNGSLPEDEQERPLALCEPGVNPEEQLIIIQSRLDQSMEENQDLKKELLKCKQEARNLQGIKDALQ
  QRLTQQDTSVLQLKQELLRANMDKDELHNQNVDLQRKLDERNRLLGEYKKELGQKDRLLQQHQAKLEEALRKLSD
  VSYHQVDLERELEHKDVLLAHCMKREADEATNYNSHNSQSNGFLLPTAGKGATSVSNRGTSDLQLVRDALRSLRN
  SFSGHDPQHHTIDSLEQGISSLMERLHVMETQKKQERKVRVKSPRTQVGSEYRESWPPNSKLPHSQSSPTVSSTC
  TKVLYFTDRSLTPFMVNIPKRLEEVTLKDFKAAIDREGNHRYHFKALDPEFGTVKEEIFHDDDAIPGWEGKIVAW
  VEEDHGEN

• Structural information:
  • Protein Domains: (20..12-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (600..68-)
    (/note="DIX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00069"-)
  • Interpro: IPR001715  IPR036872  IPR001158  IPR038207  IPR015506   IPR029071  
  • Prosite: PS50021 PS50841
  • CDD: cd00014
  • PDB: 3PZ7
  • PDBsum: 3PZ7
  • STRING: ENSP00000394352
• Other Databases: GeneCards:  DIXDC1  Malacards:  DIXDC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0060070	canonical Wnt signaling pathway	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0043015	gamma-tubulin binding	IDA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0021846	cell proliferation in forebrain	IEA	biological process
GO:0021799	cerebral cortex radially oriented cell migration	IEA	biological process
GO:0021795	cerebral cortex cell migration	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0070507	regulation of microtubule cytoskeleton organization	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0021869	forebrain ventricular zone progenitor cell division	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0005925	focal adhesion	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq