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

Gene ID: 30827, updated on 7-Jun-2020

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
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

Genomic context

See CXXC1 in Genome Data Viewer
Location:
18q21.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (50282343..50288322, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47808713..47814692, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 53 Neighboring gene methyl-CpG binding domain protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 458 Neighboring gene uncharacterized LOC105372114

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to histone methyltransferase activity (H3-K4 specific) IDA
Inferred from Direct Assay
more info
PubMed 
methylated histone binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
unmethylated CpG binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
histone H3-K4 methylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Set1C/COMPASS complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
histone methyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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_001101654.1NP_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)
    AA236925, AB031069, AC090246, BC015733, BX647189
    Consensus CDS
    CCDS45866.1
    UniProtKB/Swiss-Prot
    Q9P0U4
    Related
    ENSP00000390475.1, ENST00000412036.6
    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:406640
    zf-CpG_bind_C; CpG binding protein zinc finger C terminal domain
  2. NM_014593.3NP_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)
    AA236925, AB031069, AC090246, BX647189
    Consensus CDS
    CCDS11945.1
    UniProtKB/Swiss-Prot
    Q9P0U4
    Related
    ENSP00000285106.6, ENST00000285106.10
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    50282343..50288322 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025719.1XP_016881208.1  CXXC-type zinc finger protein 1 isoform X4

  2. XM_011525941.2XP_011524243.1  CXXC-type zinc finger protein 1 isoform X3

    Conserved Domains (2) summary
    pfam02008
    Location:3783
    zf-CXXC; CXXC zinc finger domain
    pfam12269
    Location:281515
    zf-CpG_bind_C; CpG binding protein zinc finger C terminal domain
  3. XM_017025718.2XP_016881207.1  CXXC-type zinc finger protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9P0U4
    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
  4. XM_011525940.2XP_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
    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:406640
    zf-CpG_bind_C; CpG binding protein zinc finger C terminal domain
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