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CXXC1 Gene

protein-coding   GIFtS: 59
GCID: GC18M047808

CXXC Finger Protein 1

(Previous name: CXXC finger 1 (PHD domain))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CXXC Finger Protein 11 2     CpG Binding-Type Containing 11
CXXC Finger 1 (PHD Domain)1 2     Zinc Finger1
CpG Binding Protein1 2     2410002I16Rik2
DNA-Binding Protein With PHD Finger And CXXC Domain1 2     5830420C16Rik2
CpG-Binding Protein2 3     HsT26452
CFP12 3     SPP12
CGBP2 3     ZCGPC12
PCCX12 3     CXXC-Type Zinc Finger Protein 12
PHF182 3     hCGBP2
PHD Finger And CXXC Domain-Containing Protein 12 3     Zinc Finger, CpG Binding-Type Containing 12

External Ids:    HGNC: 243431   Entrez Gene: 308272   Ensembl: ENSG000001548327   OMIM: 6091505   UniProtKB: Q9P0U43   

Export aliases for CXXC1 gene to outside databases

Previous GC identifers: GC18M046061 GC18M046062 GC18M044663


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CXXC1 Gene:
Proteins that contain a CXXC motif within their DNA-binding domain, such as CXXC1, recognize CpG sequences and
regulate gene expression (Carlone and Skalnik, 2001 (PubMed 11604496)).(supplied by OMIM, Mar 2008)

GeneCards Summary for CXXC1 Gene:
CXXC1 (CXXC finger protein 1) is a protein-coding gene. GO annotations related to this gene include histone methyltransferase activity (H3-K4 specific) and unmethylated CpG binding.

UniProtKB/Swiss-Prot: CXXC1_HUMAN, Q9P0U4
Function: Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs
with a preference for CpGG

Gene Wiki entry for CXXC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CXXC1 gene promoter:
         STAT1   p53   STAT1alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CXXC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CXXC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q12

CXXC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CXXC1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M047808:  view genomic region     (about GC identifiers)

Start:
47,808,713 bp from pter      End:
47,814,692 bp from pter
Size:
5,980 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CXXC1_HUMAN, Q9P0U4 (See protein sequence)
Recommended Name: CXXC-type zinc finger protein 1  
Size: 656 amino acids; 75712 Da
Subunit: 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
6 PDB 3D structures from and Proteopedia for CXXC1:
3QMB (3D)        3QMC (3D)        3QMD (3D)        3QMG (3D)        3QMH (3D)        3QMI (3D)    
Secondary accessions: B2RC03 Q8N2W4 Q96BC8 Q9P2V7
Alternative splicing: 2 isoforms:  Q9P0U4-1   Q9P0U4-2   

Explore the universe of human proteins at neXtProt for CXXC1: NX_Q9P0U4

Explore proteomics data for CXXC1 at MOPED

Post-translational modifications: 

  • May be regulated by proteolysis1
  • Ubiquitination2 at Lys508
  • Modification sites at PhosphoSitePlus

  • See CXXC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001095124.1  NP_055408.2  

    ENSEMBL proteins: 
     ENSP00000390475   ENSP00000285106   ENSP00000467634   ENSP00000465849   ENSP00000468038  
     ENSP00000465284  
    Reactome Protein details: Q9P0U4

    CXXC1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CXXC1
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    Novus Biologicals CXXC1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CXXC1

     
    Search eBioscience for Proteins for CXXC1 

     
    antibodies-online proteins for CXXC1 (2 products) 

     
    antibodies-online peptides for CXXC1

    CXXC1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CXXC1
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    Abcam antibodies for CXXC1
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    antibodies-online antibodies for CXXC1 (24 products) 

    CXXC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CXXC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CXXC1
    Cloud-Clone Corp. CLIAs for CXXC1
    Search eBioscience for ELISAs for CXXC1 
    antibodies-online kits for CXXC1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 7):
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR002857 Znf_CXXC
     IPR022056 CpG-bd_C
     IPR019786 Zinc_finger_PHD-type_CS

    Graphical View of Domain Structure for InterPro Entry Q9P0U4

    ProtoNet protein and cluster: Q9P0U4

    2 Blocks protein domains:
    IPB001965 Zn-finger-like
    IPB002857 Zn-finger


    UniProtKB/Swiss-Prot: CXXC1_HUMAN, Q9P0U4
    Domain: The acidic domain carries the potential to activate transcription
    Similarity: Contains 1 CXXC-type zinc finger
    Similarity: Contains 1 PHD-type zinc finger


    Find genes that share domains with CXXC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CXXC1_HUMAN, Q9P0U4
    Function: Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs
    with a preference for CpGG

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0005515protein binding IPI17998332
    GO:0008270zinc ion binding IEA--
    GO:0042800contributes to histone methyltransferase activity (H3-K4 specific) IDA17355966
    GO:0045322unmethylated CpG binding IDA10688657
         
    Find genes that share ontologies with CXXC1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cxxc1):
     embryogenesis  mortality/aging  reproductive system 

    Find genes that share phenotypes with CXXC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cxxc1tm1Skk for CXXC1

       genOway: Develop your customized and physiologically relevant rodent model for CXXC1

    miRNA
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    miRTarBase miRNAs that target CXXC1:
    hsa-mir-324-3p (MIRT042903), hsa-mir-124-3p (MIRT022879)

    Block miRNA regulation of human, mouse, rat CXXC1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate CXXC1:
    hsa-miR-495 hsa-miR-3673 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-590-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidCXXC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CXXC1
    Predesigned siRNA for gene silencing in human, mouse, rat CXXC1

    Gene Editing
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    Addgene plasmids for CXXC1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CXXC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CXXC1_HUMAN, Q9P0U4: Nucleus speckle. Note=Associated with euchromatin. During mitosis, excluded from condensed
    chromosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10688657
    GO:0005654nucleoplasm TAS--
    GO:0016363nuclear matrix IEA--
    GO:0016607nuclear speck IDA--
    GO:0035097histone methyltransferase complex IDA17355966

    Find genes that share ontologies with CXXC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CXXC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30


    Find genes that share SuperPaths with CXXC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CXXC1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    PI3K Signaling in B-Lymphocyte
    Transendothelial Migration of Leukocytes

    1 Reactome Pathway for CXXC1
        XBP1(S) activates chaperone genes


        Pathway & Disease-focused RT2 Profiler PCR Arrays including CXXC1: 
              Parkinson's Disease in human mouse rat
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CXXC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CXXC1 (Q9P0U43 ENSP000003904754) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST2H4AP628053, ENSP000003581624I2D: score=1 STRING: ENSP00000358162
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IDA10688657
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0030968endoplasmic reticulum unfolded protein response TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with CXXC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CXXC1

    1 Novoseek inferred chemical compound relationship for CXXC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytosine 48.8 1 16253997 (1)



    Find genes that share compounds with CXXC1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CXXC1 gene (2 alternative transcripts): 
    NM_001101654.1  NM_014593.3  

    Unigene Cluster for CXXC1:

    CXXC finger protein 1
    Hs.180933  [show with all ESTs]
    Unigene Representative Sequence: NM_001101654
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000412036(uc002ler.4 uc002leq.4 uc010doy.3) ENST00000285106(uc002lep.4)
    ENST00000589940 ENST00000590901 ENST00000587342 ENST00000587170 ENST00000586144
    ENST00000586568 ENST00000586502 ENST00000590234 ENST00000591190 ENST00000591474
    ENST00000592078 ENST00000589548 ENST00000586837 ENST00000586365 ENST00000587396

    miRNA
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    hsa-miR-495 hsa-miR-3673 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-590-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidCXXC1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for CXXC1 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CXXC1
      QuantiTect SYBR Green Assays in human, mouse, rat CXXC1
      QuantiFast Probe-based Assays in human, mouse, rat CXXC1

    Additional mRNA sequence: 

    AB031069.1 AF149758.1 AK294645.1 AK314886.1 AL136862.1 BC002504.2 BC009188.2 BC014940.2 
    BC015733.1 BC029922.1 BX647189.1 

    10 DOTS entries:

    DT.451915  DT.100788557  DT.95160890  DT.100788556  DT.95160891  DT.92440142  DT.100654108  DT.95160879 
    DT.441093  DT.92440140 

    Selected AceView cDNA sequences (see all 247):

    AA825495 AI365458 CR604901 BE276200 BI918104 CR621333 AI339596 BC014940 
    AA399251 AA338532 BM476063 AA569384 BI754130 CA487361 AA227495 BE396082 
    BI767555 AA854424 AL557652 CR604821 CR590242 CA487241 BE563006 CF141129 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CXXC1 (see all 13)    About this scheme

    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:                          -     -     -                                                                                                                     

    ExUns: 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17a · 17b · 17c
    SP1:  -     -           -     -                           
    SP2:  -     -           -     -                           
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for CXXC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CXXC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCAGTGCCT
    CXXC1 Expression
    About this image


    CXXC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Ovary (Reproductive System)
     
     Spleen (Hematopoietic System)
    CXXC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CXXC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.180933

    UniProtKB/Swiss-Prot: CXXC1_HUMAN, Q9P0U4
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CXXC1: 
              Parkinson's Disease in human mouse rat
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CXXC1
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    QuantiFast Probe-based Assays in human, mouse, rat CXXC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CXXC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for CXXC1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cxxc11 , 5 CXXC finger 1 (PHD domain)1, 5 89.43(n)1
    96.19(a)1
      18 (50.70 cM)5
    743221  NM_028868.31  NP_083144.11 
     742162125 
    lizard
    (Anolis carolinensis)
    Reptilia CXXC16
    CXXC finger protein 1
    74(a)
    1 ↔ 1
    2(69146186-69172992)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.155182 Xenopus laevis transcribed sequence with moderate similarity more 80.9(n)    48046101 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc555272 hypothetical protein MGC55527 78.96(n)   393304  BC052918.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cfp11 Cfp1 53.84(n)
    48.22(a)
      31880  NM_001201641.1  NP_001188570.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cfp-16
    Protein F52B11.1, isoform a
    21(a)
    1 ↔ 1
    IV(14077441-14083559) WBGene00009924


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CXXC1 gene
    2 SIMAP similar genes for CXXC1 using alignment to 5 protein entries:     CXXC1_HUMAN (see all proteins):
    FBXL19    PHF8

    Find genes that share paralogs with CXXC1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CXXC1
    PGOHUM00000241737


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CXXC1 (see all 196)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2004678931,2
    --47810197(+) GGAATA/GGAAGG 2 -- int10--------
    rs1493807581,2
    C--47810247(+) TGCTGC/TGCCCC 2 -- int10--------
    rs2000573391,2
    --47810248(+) GCTGCG/TCCCCT 2 -- int10--------
    rs38192171,2
    C,F,A,H--47810251(-) AGCAGG/CGGCGC 2 -- int113Minor allele frequency- C:0.36NS EA NA CSA WA EU 2089
    rs72280841,2
    C,F,A,H--47810351(+) AGGCGG/AGTGCG 4 /T syn1 ese322Minor allele frequency- A:0.31NA NS EA WA CSA EU 6550
    rs1462872191,2
    C,F--47810387(+) CGTTCG/AAGCAG 4 /L syn11Minor allele frequency- A:0.00NA 4492
    rs2011448991,2
    C--47810479(+) GCAGGA/GAAGGT 2 -- int10--------
    rs1909114381,2
    C--47810499(+) CAGAAA/TGAGTG 2 -- int10--------
    rs2001067091,2
    C--47810510(+) AGGTGA/TTCAGT 2 -- int10--------
    rs1826811501,2
    C--47810511(+) GGTGAA/C/TCAGTA 2 -- int10--------

    HapMap Linkage Disequilibrium report for CXXC1 (47808713 - 47814692 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CXXC1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CXXC1
    DNA2.0 Custom Variant and Variant Library Synthesis for CXXC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609150    OMIM disorders: --

    2 diseases from the University of Copenhagen DISEASES database for CXXC1:
    Rett syndrome     Klatskin's tumor

    Find genes that share disorders with CXXC1           About GenesLikeMe

    Genetic Association Database (GAD): CXXC1

    Export disorders for CXXC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CXXC1 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with CXXC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10688657)1, 2, 3, 9 Voo K.S.... Skalnik D.G. (Mol. Cell. Biol. 2000)
    2. PCCX1, a novel DNA-binding protein with PHD finger and CXXC domain, is regulated by proteolysis. (PubMed id 10799292)1, 2, 3, 9 Fujino T.... Takano T. (Biochem. Biophys. Res. Commun. 2000)
    3. CpG-binding protein is a nuclear matrix- and euchromatin-associated protein localized to nuclear speckles containing human trithorax. Identification of nuclear matrix targeting signals. (PubMed id 12200428)1, 2, 9 Lee J.-H. and Skalnik D.G. (J. Biol. Chem. 2002)
    4. 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. (PubMed id 16253997)1, 2, 9 Lee J.-H. and Skalnik D.G. (J. Biol. Chem. 2005)
    5. The structural basis for selective binding of non-methylated CpG islands by the CFP1 CXXC domain. (PubMed id 21407193)1, 2 Xu C.... Min J. (Nat. Commun. 2011)
    6. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. (PubMed id 20062064)1, 4 Crowther-Swanepoel D....Houlston R.S. (Nat. Genet. 2010)
    7. Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes. (PubMed id 17998332)1, 2 Lee J.H. and Skalnik D.G. (Mol. Cell. Biol. 2008)
    8. Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS. (PubMed id 18838538)1, 2 Wu M....Shilatifard A. (Mol. Cell. Biol. 2008)
    9. Identification and characterization of the human Set1B histone H3- Lys4 methyltransferase complex. (PubMed id 17355966)1, 2 Lee J.-H.... Skalnik D.G. (J. Biol. Chem. 2007)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 30827 HGNC: 24343 AceView: CXXC1 Ensembl:ENSG00000154832 euGenes: HUgn30827
    ECgene: CXXC1 H-InvDB: CXXC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CXXC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CXXC1 gene:
    Search GeneIP for patents involving CXXC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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