• Gene id: 30827

Gene Summary

• Gene Symbol: CXXC1   Gene   UCSC   Ensembl
• Aliases: 2410002I16Rik, 5830420C16Rik, CFP1, CGBP, HsT2645, PCCX1, PHF18, SPP1, ZCGPC1, hCGBP
• Gene name: CXXC finger protein 1
• Alternate names: CXXC-type zinc finger protein 1, CXXC finger 1 (PHD domain), CpG binding protein, DNA-binding protein with PHD finger and CXXC domain, PHD finger and CXXC domain-containing protein 1, cpG-binding protein, zinc finger, CpG binding-type containing 1,
• Gene location: 18q21.1 (50288321: 50282342)     Exons: 16     NC_000018.10
• Gene summary(Entrez): This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebr
• OMIM: 609150

Protein Summary

• Protein general information: Q9P0U4  
  • Name: CXXC type zinc finger protein 1 (CpG binding protein) (PHD finger and CXXC domain containing protein 1)
  • Length: 656  
  • Mass: 75712
  • Tissue specificity: Ubiquitous.
• Sequence:

  MEGDGSDPEPPDAGEDSKSENGENAPIYCICRKPDINCFMIGCDNCNEWFHGDCIRITEKMAKAIREWYCRECRE
  KDPKLEIRYRHKKSRERDGNERDSSEPRDEGGGRKRPVPDPDLQRRAGSGTGVGAMLARGSASPHKSSPQPLVAT
  PSQHHQQQQQQIKRSARMCGECEACRRTEDCGHCDFCRDMKKFGGPNKIRQKCRLRQCQLRARESYKYFPSSLSP
  VTPSESLPRPRRPLPTQQQPQPSQKLGRIREDEGAVASSTVKEPPEATATPEPLSDEDLPLDPDLYQDFCAGAFD
  DHGLPWMSDTEESPFLDPALRKRAVKVKHVKRREKKSEKKKEERYKRHRQKQKHKDKWKHPERADAKDPASLPQC
  LGPGCVRPAQPSSKYCSDDCGMKLAANRIYEILPQRIQQWQQSPCIAEEHGKKLLERIRREQQSARTRLQEMERR
  FHELEAIILRAKQQAVREDEESNEGDSDDTDLQIFCVSCGHPINPRVALRHMERCYAKYESQTSFGSMYPTRIEG
  ATRLFCDVYNPQSKTYCKRLQVLCPEHSRDPKVPADEVCGCPLVRDVFELTGDFCRLPKRQCNRHYCWEKLRRAE
  VDLERVRVWYKLDELFEQERNVRTAMTNRAGLLALMLHQTIQHDPLTTDLRSSADR

• Structural information:
  • Interpro: IPR022056  IPR037869  IPR019786  IPR002857  IPR011011   IPR001965  IPR019787  
  • Prosite: PS51058 PS01359 PS50016
  • PDB: 3QMB 3QMC 3QMD 3QMG 3QMH 3QMI
  • PDBsum: 3QMB 3QMC 3QMD 3QMG 3QMH 3QMI
  • DIP: 50001
  • STRING: ENSP00000390475
• Other Databases: GeneCards:  CXXC1  Malacards:  CXXC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0048188	Set1C/COMPASS complex	IDA	cellular component
GO:0048188	Set1C/COMPASS complex	IDA	cellular component
GO:0035064	methylated histone binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0048188	Set1C/COMPASS complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0016607	nuclear speck	IDA	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:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0035064	methylated histone binding	IEA	molecular function
GO:0016363	nuclear matrix	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045322	unmethylated CpG binding	IDA	molecular function
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	contributes to
GO:0051568	histone H3-K4 methylation	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881