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Aliases for CXXC1 Gene

Aliases for CXXC1 Gene

  • CXXC Finger Protein 1 2 3 5
  • DNA-Binding Protein With PHD Finger And CXXC Domain 2 3
  • PHD Finger And CXXC Domain-Containing Protein 1 3 4
  • Zinc Finger, CpG Binding-Type Containing 1 2 3
  • CXXC Finger 1 (PHD Domain) 2 3
  • CpG Binding Protein 2 3
  • CpG-Binding Protein 3 4
  • PCCX1 3 4
  • PHF18 3 4
  • CFP1 3 4
  • CGBP 3 4
  • CXXC-Type Zinc Finger Protein 1 3
  • 2410002I16Rik 3
  • 5830420C16Rik 3
  • HsT2645 3
  • ZCGPC1 3
  • HCGBP 3
  • SPP1 3

External Ids for CXXC1 Gene

Previous GeneCards Identifiers for CXXC1 Gene

  • GC18M046061
  • GC18M046062
  • GC18M047808
  • GC18M044663

Summaries for CXXC1 Gene

Entrez Gene Summary for CXXC1 Gene

  • 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 vertebrate development. [provided by RefSeq, Sep 2015]

GeneCards Summary for CXXC1 Gene

CXXC1 (CXXC Finger Protein 1) is a Protein Coding gene. Among its related pathways are Unfolded Protein Response (UPR) and Chromatin Regulation / Acetylation. GO annotations related to this gene include histone methyltransferase activity (H3-K4 specific) and unmethylated CpG binding.

UniProtKB/Swiss-Prot for CXXC1 Gene

  • Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a preference for CpGG.

Gene Wiki entry for CXXC1 Gene

Additional gene information for CXXC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CXXC1 Gene

Genomics for CXXC1 Gene

Regulatory Elements for CXXC1 Gene

Enhancers for CXXC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18H050283 1.4 ENCODE dbSUPER 54.7 +2.2 2167 4 HDGF FOXA2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 SMAD4 CXXC1 RPL17 MBD1 ELAC1 MEX3C CFAP53
GH18H049514 0.9 ENCODE 61.1 +773.6 773567 0 ZNF493 ZFP64 RAD21 ZEB1 ZNF155 ZNF121 ZNF302 ZNF138 ZNF366 ZNF354C CXXC1 RPL17 MBD1 ENSG00000264269 C18orf32 LIPG DYM LOC101928144 GC18M049549
GH18H050277 1.6 Ensembl ENCODE dbSUPER 30.1 +8.5 8454 5 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 SMAD4 RPL17 MBD1 CXXC1 MEX3C ELAC1 CFAP53
GH18H050355 1.2 Ensembl ENCODE 23.4 -68.4 -68421 1 HDGF PKNOX1 TBL1XR1 ZSCAN4 ARID4B KLF17 BATF ZNF2 RAD21 RFX5 CXXC1 MBD1 LOC105372114 RNA5SP458
GH18H049655 1 ENCODE 24.6 +632.2 632156 1 FEZF1 ZNF2 GTF3C2 GLIS2 ZNF302 FOS SP3 TSHZ1 ZNF488 GLIS1 CXXC1 RPL17 LIPG MBD1 ENSG00000264269 SMUG1P1 GC18M049670
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CXXC1 on UCSC Golden Path with GeneCards custom track

Promoters for CXXC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000103296 722 2001 HDGF FOXA2 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1

Genomic Location for CXXC1 Gene

Chromosome:
18
Start:
50,282,343 bp from pter
End:
50,288,322 bp from pter
Size:
5,980 bases
Orientation:
Minus strand

Genomic View for CXXC1 Gene

Genes around CXXC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CXXC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CXXC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CXXC1 Gene

Proteins for CXXC1 Gene

  • Protein details for CXXC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0U4-CXXC1_HUMAN
    Recommended name:
    CXXC-type zinc finger protein 1
    Protein Accession:
    Q9P0U4
    Secondary Accessions:
    • B2RC03
    • Q8N2W4
    • Q96BC8
    • Q9P2V7

    Protein attributes for CXXC1 Gene

    Size:
    656 amino acids
    Molecular mass:
    75712 Da
    Quaternary structure:
    • Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1 HCFC1 and DPY30. Interacts with SETD1A. Interacts with ZNF335.

    Three dimensional structures from OCA and Proteopedia for CXXC1 Gene

    Alternative splice isoforms for CXXC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CXXC1 Gene

Post-translational modifications for CXXC1 Gene

No data available for DME Specific Peptides for CXXC1 Gene

Domains & Families for CXXC1 Gene

Gene Families for CXXC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for CXXC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P0U4

UniProtKB/Swiss-Prot:

CXXC1_HUMAN :
  • The acidic domain carries the potential to activate transcription.
Domain:
  • The acidic domain carries the potential to activate transcription.
genes like me logo Genes that share domains with CXXC1: view

Function for CXXC1 Gene

Molecular function for CXXC1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a preference for CpGG.

Phenotypes From GWAS Catalog for CXXC1 Gene

Gene Ontology (GO) - Molecular Function for CXXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000987 core promoter proximal region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 17998332
GO:0008270 zinc ion binding IEA --
GO:0042800 contributes_to histone methyltransferase activity (H3-K4 specific) IDA 17355966
genes like me logo Genes that share ontologies with CXXC1: view
genes like me logo Genes that share phenotypes with CXXC1: view

Animal Models for CXXC1 Gene

MGI Knock Outs for CXXC1:

Animal Model Products

CRISPR Products

miRNA for CXXC1 Gene

miRTarBase miRNAs that target CXXC1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CXXC1
  • Applied Biological Materials Clones for CXXC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CXXC1 Gene

Localization for CXXC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CXXC1 Gene

Nucleus speckle. Note=Associated with euchromatin. During mitosis, excluded from condensed chromosomes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CXXC1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CXXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10688657
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0016363 nuclear matrix IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with CXXC1: view

Pathways & Interactions for CXXC1 Gene

genes like me logo Genes that share pathways with CXXC1: view

Pathways by source for CXXC1 Gene

Gene Ontology (GO) - Biological Process for CXXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,IDA 10688657
GO:0036498 IRE1-mediated unfolded protein response TAS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 10688657
GO:0051568 histone H3-K4 methylation IDA 17355966
genes like me logo Genes that share ontologies with CXXC1: view

No data available for SIGNOR curated interactions for CXXC1 Gene

Drugs & Compounds for CXXC1 Gene

(1) Additional Compounds for CXXC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CXXC1: view

Transcripts for CXXC1 Gene

Unigene Clusters for CXXC1 Gene

CXXC finger protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CXXC1
  • Applied Biological Materials Clones for CXXC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CXXC1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5: - - -
SP6: - - - - -
SP7: -
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:

ExUns: 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17a · 17b · 17c
SP1: - - - -
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12: - -
SP13:

Relevant External Links for CXXC1 Gene

GeneLoc Exon Structure for
CXXC1
ECgene alternative splicing isoforms for
CXXC1

Expression for CXXC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CXXC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CXXC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.7) and CD8 Tcells (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CXXC1 Gene



Protein tissue co-expression partners for CXXC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CXXC1 Gene:

CXXC1

SOURCE GeneReport for Unigene cluster for CXXC1 Gene:

Hs.180933

mRNA Expression by UniProt/SwissProt for CXXC1 Gene:

Q9P0U4-CXXC1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CXXC1 Gene

  • Intestine(4.3)
  • Skin(4.3)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with CXXC1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CXXC1 Gene

Orthologs for CXXC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CXXC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CXXC1 33 34
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia CXXC1 33 34
  • 92.73 (n)
cow
(Bos Taurus)
Mammalia CXXC1 33 34
  • 91.11 (n)
rat
(Rattus norvegicus)
Mammalia Cxxc1 33
  • 89.92 (n)
mouse
(Mus musculus)
Mammalia Cxxc1 33 16 34
  • 89.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CXXC1 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CXXC1 34
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CXXC1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cxxc1 33
  • 73.54 (n)
Str.7156 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15518 33
zebrafish
(Danio rerio)
Actinopterygii cxxc1l 34
  • 71 (a)
OneToMany
cxxc1 33 34
  • 67.67 (n)
zgc55527 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5099 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004704 33
  • 55.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cfp1 33 34
  • 53.84 (n)
CG17440 34
  • 26 (a)
OneToMany
CG3347 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cfp-1 34
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPP1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
Species where no ortholog for CXXC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CXXC1 Gene

ENSEMBL:
Gene Tree for CXXC1 (if available)
TreeFam:
Gene Tree for CXXC1 (if available)

Paralogs for CXXC1 Gene

(2) SIMAP similar genes for CXXC1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for CXXC1 Gene

genes like me logo Genes that share paralogs with CXXC1: view

No data available for Paralogs for CXXC1 Gene

Variants for CXXC1 Gene

Sequence variations from dbSNP and Humsavar for CXXC1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000043942 -- 50,282,078(+) GCACG(A/C)GGGAG downstream-variant-500B, upstream-variant-2KB
rs1000251443 -- 50,288,900(+) CAAGC(A/G)TGCAC upstream-variant-2KB
rs1000447135 -- 50,283,204(+) GGATG(A/T)ATGTG intron-variant, upstream-variant-2KB
rs1000480070 -- 50,282,834(+) GCACC(A/G)AAACC intron-variant, upstream-variant-2KB
rs1000727416 -- 50,288,703(+) TTATT(G/T)ATTTA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CXXC1 Gene

Variant ID Type Subtype PubMed ID
nsv576889 CNV loss 21841781
nsv953541 CNV deletion 24416366

Variation tolerance for CXXC1 Gene

Residual Variation Intolerance Score: 3.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CXXC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CXXC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CXXC1 Gene

Disorders for CXXC1 Gene

Relevant External Links for CXXC1

Genetic Association Database (GAD)
CXXC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CXXC1

No disorders were found for CXXC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CXXC1 Gene

Publications for CXXC1 Gene

  1. Cloning of a mammalian transcriptional activator that binds unmethylated CpG motifs and shares a CXXC domain with DNA methyltransferase, human trithorax, and methyl-CpG binding domain protein 1. (PMID: 10688657) Voo KS … Skalnik DG (Molecular and cellular biology 2000) 2 3 4 22 60
  2. PCCX1, a novel DNA-binding protein with PHD finger and CXXC domain, is regulated by proteolysis. (PMID: 10799292) Fujino T … Takano T (Biochemical and biophysical research communications 2000) 2 3 4 22 60
  3. CpG-binding protein (CXXC finger protein 1) is a component of the mammalian Set1 histone H3-Lys4 methyltransferase complex, the analogue of the yeast Set1/COMPASS complex. (PMID: 16253997) Lee JH … Skalnik DG (The Journal of biological chemistry 2005) 3 4 22 60
  4. CpG-binding protein is a nuclear matrix- and euchromatin-associated protein localized to nuclear speckles containing human trithorax. Identification of nuclear matrix targeting signals. (PMID: 12200428) Lee JH … Skalnik DG (The Journal of biological chemistry 2002) 3 4 22 60
  5. The structural basis for selective binding of non-methylated CpG islands by the CFP1 CXXC domain. (PMID: 21407193) Xu C … Min J (Nature communications 2011) 3 4 60

Products for CXXC1 Gene

  • Addgene plasmids for CXXC1

Sources for CXXC1 Gene

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