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    CGGBP1 CGG triplet repeat binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 8545, updated on 9-Dec-2024

    Summary

    Official Symbol
    CGGBP1provided by HGNC
    Official Full Name
    CGG triplet repeat binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:1888
    See related
    Ensembl:ENSG00000163320 MIM:603363; AllianceGenome:HGNC:1888
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGGBP; p20-CGGBP
    Summary
    This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures which cause DNA replication errors, and form regions prone to chromosomal breakage. CGG repeats are also targets for CpG methylation. In addition to its ability to bind CGG repeats and regulate transcription, this gene is believed to play a role in DNA damage repair and telomere protection. In vitro studies indicate this protein does not bind to methylated CpG sequences. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in lymph node (RPKM 30.3), thyroid (RPKM 26.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CGGBP1 in Genome Data Viewer
    Location:
    3p11.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (88051950..88149870, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (88127798..88225703, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (88101100..88199020, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 873, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr3.2983 Neighboring gene CRISPRi-validated cis-regulatory element chr3.2985 Neighboring gene 5-hydroxytryptamine receptor 1F Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:87963222-87964421 Neighboring gene RNA, U6atac small nuclear 6, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14546 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:88094831-88096030 Neighboring gene uncharacterized LOC128031834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14547 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:88108555-88109114 Neighboring gene zinc finger protein 654 Neighboring gene chromobox 5 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:88198041-88198618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20117 Neighboring gene chromosome 3 open reading frame 38 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20120 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:88279578-88280777 Neighboring gene uncharacterized LOC105377202 Neighboring gene ATP binding cassette subfamily F member 2 pseudogene 1

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    CGG triplet repeat-binding protein 1
    Names
    20 kDa CGG-binding protein
    CGG-binding protein 1
    p20-CGG binding protein
    p20-CGGBP DNA-binding protein

    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_001008390.2NP_001008391.1  CGG triplet repeat-binding protein 1

      See identical proteins and their annotated locations for NP_001008391.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AC119733, AJ000258, AL117392, BC052980, BE501563, BU537042
      Consensus CDS
      CCDS43111.1
      UniProtKB/Swiss-Prot
      D3DU38, O15183, Q9UFW8
      Related
      ENSP00000420374.1, ENST00000482016.6
    2. NM_001195308.2NP_001182237.1  CGG triplet repeat-binding protein 1

      See identical proteins and their annotated locations for NP_001182237.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AC119733, AC128650, BC005222, BC052980
      Consensus CDS
      CCDS43111.1
      UniProtKB/Swiss-Prot
      D3DU38, O15183, Q9UFW8
      Related
      ENSP00000418769.1, ENST00000462901.5
    3. NM_003663.4NP_003654.3  CGG triplet repeat-binding protein 1

      See identical proteins and their annotated locations for NP_003654.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AC119733, AL117392, BC052980, BU537042
      Consensus CDS
      CCDS43111.1
      UniProtKB/Swiss-Prot
      D3DU38, O15183, Q9UFW8
      Related
      ENSP00000381428.2, ENST00000309534.10

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      88051950..88149870 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      88127798..88225703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)