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] See more...

Aliases for CXXC1 Gene

Aliases for CXXC1 Gene

  • CXXC Finger Protein 1 2 3 5
  • PCCX1 2 3 4
  • PHF18 2 3 4
  • CFP1 2 3 4
  • CGBP 2 3 4
  • 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-Type Zinc Finger Protein 1 3 4
  • CXXC Finger 1 (PHD Domain) 2 3
  • CpG Binding Protein 2 3
  • CpG-Binding Protein 3 4
  • HsT2645 2 3
  • ZCGPC1 2 3
  • HCGBP 2 3
  • SPP1 2 3
  • 2410002I16Rik 3
  • 5830420C16Rik 3
  • CXXC1 5

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. Diseases associated with CXXC1 include Zinc Finger Protein 1 and Gait Apraxia. Among its related pathways are Chromatin Regulation / Acetylation and Unfolded Protein Response (UPR). Gene Ontology (GO) annotations related to this gene include histone methyltransferase activity (H3-K4 specific) and unmethylated CpG binding. An important paralog of this gene is TAF3.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CXXC1 Gene

Genomics for CXXC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CXXC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CXXC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CXXC1

Top Transcription factor binding sites by QIAGEN in the CXXC1 gene promoter:
  • p53
  • STAT1
  • STAT1alpha

Genomic Locations for CXXC1 Gene

Genomic Locations for CXXC1 Gene
chr18:50,282,343-50,288,322
(GRCh38/hg38)
Size:
5,980 bases
Orientation:
Minus strand
chr18:47,808,713-47,814,692
(GRCh37/hg19)
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. Interacts with PRDM9; this interaction does not link PRDM9-activated recombination hotspot sites with DSB machinery and is not required for the hotspot recognition pathway. Interacts with histone H3K4me3 (By similarity).

    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

Protein Domains for CXXC1 Gene

InterPro:
Blocks:
  • Zn-finger-like, PHD finger
  • Zn-finger, CXXC type
ProtoNet:

Suggested Antigen Peptide Sequences for CXXC1 Gene

GenScript: Design optimal peptide antigens:
  • PHD finger and CXXC domain-containing protein 1 (CXXC1_HUMAN)

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 proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 17998332
GO:0008270 zinc ion binding IEA --
GO:0035064 methylated histone binding ISS --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CXXC1

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. Nucleus. 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 4
plasma membrane 1
extracellular 1
cytoskeleton 1
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 IEA,IDA 10688657
GO:0005654 nucleoplasm IDA,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:0006355 regulation of transcription, DNA-templated IDA 10688657
GO:0036498 IRE1-mediated unfolded protein response TAS --
GO:0045893 positive regulation of transcription, DNA-templated IBA,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

mRNA/cDNA for CXXC1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CXXC1

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

Expression for CXXC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CXXC1 Gene



Protein tissue co-expression partners for CXXC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Skin(4.5)
  • Intestine(4.4)
  • Nervous system(3.9)
  • Bone marrow(2.4)
  • Spleen(2.2)
  • Kidney(2.1)
  • Lymph node(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with CXXC1: view

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 30 31
  • 99.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CXXC1 30 31
  • 92.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CXXC1 30 31
  • 91.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cxxc1 30
  • 89.92 (n)
Mouse
(Mus musculus)
Mammalia Cxxc1 30 17 31
  • 89.43 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CXXC1 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CXXC1 31
  • 80 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CXXC1 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cxxc1 30
  • 73.54 (n)
Str.7156 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15518 30
Zebrafish
(Danio rerio)
Actinopterygii cxxc1l 31
  • 71 (a)
OneToMany
cxxc1 30 31
  • 67.67 (n)
OneToMany
zgc55527 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5099 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004704 30
  • 55.08 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Cfp1 30 31
  • 53.84 (n)
OneToMany
CG17440 31
  • 26 (a)
OneToMany
CG3347 31
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cfp-1 31
  • 21 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPP1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for CXXC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CXXC1: view image

Paralogs for CXXC1 Gene

Paralogs for CXXC1 Gene

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

  • CXXC1_HUMAN
  • K7EJR0_HUMAN
  • K7EKZ6_HUMAN
  • K7EQ21_HUMAN
  • K7EQZ1_HUMAN

Pseudogenes.org Pseudogenes for CXXC1 Gene

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

Variants for CXXC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CXXC1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
708234 Benign: not provided 50,285,233(-) C/T SYNONYMOUS_VARIANT
713216 Benign: not provided 50,286,835(-) C/T SYNONYMOUS_VARIANT
714750 Benign: not provided 50,283,340(-) A/G SYNONYMOUS_VARIANT
721548 Likely Benign: not provided 50,286,787(-) C/A SYNONYMOUS_VARIANT
727417 Benign: not provided 50,285,761(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CXXC1 Gene

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)

Additional Variant Information for CXXC1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CXXC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CXXC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
zinc finger protein 1
  • znf1
gait apraxia
breast adenoma
  • ademoma - breast
lateral meningocele syndrome
  • lmns
immunodeficiency-centromeric instability-facial anomalies syndrome
  • immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16
- elite association - COSMIC cancer census association via MalaCards
Search CXXC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CXXC1

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

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

Publications for CXXC1 Gene

  1. 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 23
  2. 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 23
  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 23
  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 23
  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

Products for CXXC1 Gene

Sources for CXXC1 Gene