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    CXXC1 CXXC finger protein 1 [ Homo sapiens (human) ]

    Gene ID: 30827, updated on 3-Dec-2024

    Summary

    Official Symbol
    CXXC1provided by HGNC
    Official Full Name
    CXXC finger protein 1provided by HGNC
    Primary source
    HGNC:HGNC:24343
    See related
    Ensembl:ENSG00000154832 MIM:609150; AllianceGenome:HGNC:24343
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CFP1; CGBP; SPP1; PCCX1; PHF18; hCGBP; ZCGPC1; HsT2645; 2410002I16Rik; 5830420C16Rik
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 16.4), lymph node (RPKM 14.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CXXC1 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (50282347..50287692, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50484088..50489433, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47808717..47814062, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 53 Neighboring gene uncharacterized LOC124904300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47792269-47793114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47801678-47802178 Neighboring gene methyl-CpG binding domain protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9457 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47807971-47808551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47808552-47809132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13320 Neighboring gene uncharacterized LOC124904301 Neighboring gene RNA, 5S ribosomal pseudogene 458

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Three components (Setd1A, CXXC1, WDR5) of the Set1 histone methyltransferase complex are identified to interact with HIV-1 Tat in Jurkat cell PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cis-regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables methylated histone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unmethylated CpG binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of Set1C/COMPASS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Set1C/COMPASS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Set1C/COMPASS complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    part_of histone methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    CXXC-type zinc finger protein 1
    Names
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001101654.2NP_001095124.1  CXXC-type zinc finger protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001095124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB031069, BC015733
      Consensus CDS
      CCDS45866.1
      UniProtKB/Swiss-Prot
      Q9P0U4
      Related
      ENSP00000390475.1, ENST00000412036.6
      Conserved Domains (3) summary
      cd15553
      Location:2873
      PHD_Cfp1; PHD finger found in CXXC-type zinc finger protein 1 (Cfp1)
      pfam02008
      Location:162208
      zf-CXXC; CXXC zinc finger domain
      pfam12269
      Location:406640
      zf-CpG_bind_C; CpG binding protein zinc finger C terminal domain
    2. NM_014593.4NP_055408.2  CXXC-type zinc finger protein 1 isoform 2

      See identical proteins and their annotated locations for NP_055408.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AB031069
      Consensus CDS
      CCDS11945.1
      UniProtKB/Swiss-Prot
      B2RC03, Q8N2W4, Q96BC8, Q9P0U4, Q9P2V7
      UniProtKB/TrEMBL
      K7EQ21
      Related
      ENSP00000285106.6, ENST00000285106.11
      Conserved Domains (3) summary
      pfam02008
      Location:162208
      zf-CXXC; CXXC zinc finger domain
      cd15553
      Location:2873
      PHD_Cfp1; PHD finger found in CXXC-type zinc finger protein 1 (Cfp1)
      pfam12269
      Location:402636
      zf-CpG_bind_C; CpG binding protein zinc finger C terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      50282347..50287692 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025718.3XP_016881207.1  CXXC-type zinc finger protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RC03, Q8N2W4, Q96BC8, Q9P0U4, Q9P2V7
      UniProtKB/TrEMBL
      K7EQ21
      Conserved Domains (3) summary
      pfam02008
      Location:162208
      zf-CXXC; CXXC zinc finger domain
      cd15553
      Location:2873
      PHD_Cfp1; PHD finger found in CXXC-type zinc finger protein 1 (Cfp1)
      pfam12269
      Location:402636
      zf-CpG_bind_C; CpG binding protein zinc finger C terminal domain
    2. XM_011525940.3XP_011524242.1  CXXC-type zinc finger protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011524242.1

      UniProtKB/Swiss-Prot
      Q9P0U4
      Conserved Domains (3) summary
      cd15553
      Location:2873
      PHD_Cfp1; PHD finger found in CXXC-type zinc finger protein 1 (Cfp1)
      pfam02008
      Location:162208
      zf-CXXC; CXXC zinc finger domain
      pfam12269
      Location:406640
      zf-CpG_bind_C; CpG binding protein zinc finger C terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      50484088..50489433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318553.1XP_054174528.1  CXXC-type zinc finger protein 1 isoform X2

      UniProtKB/Swiss-Prot
      B2RC03, Q8N2W4, Q96BC8, Q9P0U4, Q9P2V7
      UniProtKB/TrEMBL
      K7EQ21
    2. XM_054318552.1XP_054174527.1  CXXC-type zinc finger protein 1 isoform X1