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

Gene ID: 8545, updated on 29-Mar-2020

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
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

Genomic context

See CGGBP1 in Genome Data Viewer
Location:
3p11.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (88051950..88149866, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (88101100..88199016, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr3.2985 Neighboring gene 5-hydroxytryptamine receptor 1F Neighboring gene RNA, U6atac small nuclear 6, pseudogene Neighboring gene zinc finger protein 654 Neighboring gene chromobox 5 pseudogene 1 Neighboring gene chromosome 3 open reading frame 38 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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    Q9UFW8
    Related
    ENSP00000420374.1, ENST00000482016.6
  2. NM_001195308.1NP_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, BC005222, BC052980
    Consensus CDS
    CCDS43111.1
    UniProtKB/Swiss-Prot
    Q9UFW8
    Related
    ENSP00000418769.1, ENST00000462901.5
  3. NM_003663.3NP_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)
    AL117392, BC052980, BU537042
    Consensus CDS
    CCDS43111.1
    UniProtKB/Swiss-Prot
    Q9UFW8
    Related
    ENSP00000381428.2, ENST00000309534.10

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    88051950..88149866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453797.1XP_024309565.1  CGG triplet repeat-binding protein 1 isoform X1

    Related
    ENSP00000381429.2, ENST00000398392.2
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