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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CGGBP1-dependent CTCF-binding sites restrict ectopic transcription.
Title: CGGBP1-dependent CTCF-binding sites restrict ectopic transcription.
CGGBP1-regulated cytosine methylation at CTCF-binding motifs resists stochasticity.
Title: CGGBP1-regulated cytosine methylation at CTCF-binding motifs resists stochasticity.
CGGBP1 is a regulator of CTCF-DNA-binding pattern with a direct effect on a potential chromatin barrier like functioning of repeatrich and motif-rich regions.
Title: CGGBP1 regulates CTCF occupancy at repeats.
By studying global gene expression patterns and genome-wide DNA-binding patterns of CGGBP1, it has been shown that a possible mechanism through which it affects the expression of RNA Pol II-transcribed genes in trans depends on Alu RNA.
Title: Growth signals employ CGGBP1 to suppress transcription of Alu-SINEs.
CGGBP1 has no direct effect on FMR1 transcription and CGG repeat stability.
Title: Defining the role of the CGGBP1 protein in FMR1 gene expression.
CGGBP1 protein play an important cytoprotective role in patients with cancer.
Title: CGGBP1--an indispensable protein with ubiquitous cytoprotective functions.
CGGBP1 is a possible bidirectional regulator of CpG methylation at Alus, and acts as a repressor of methylation at L1 retrotransposons.
Title: CGGBP1 mitigates cytosine methylation at repetitive DNA sequences.
Our results suggest that CGGBP1 phosphorylation at S164 is a novel telomere protection signal, which can affect telomere-protective function of the shelterin complex
Title: CGGBP1 phosphorylation constitutes a telomere-protection signal.
Over-expression of miR-7 could significantly inhibit the growth of human lung cancer cells in vivo and in vitro, which might be related to the down-regulated expression of tumor growth-associated protein CGGBP1
Title: [Over-expressed microRNA-7 inhibits the growth of human lung cancer cells via suppressing CGGBP1 expression].
CGGBP1 depletion by RNA interference in tumor-derived cells caused an increase in the cell population at G0/G1 phase and reduced the number of cells in the S phase.
Title: CGGBP1 regulates cell cycle in cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102190 (e-PCR)
- UniSTS:96524

G35321 (e-PCR)
- UniSTS:55898

D3S2962E (e-PCR)
- UniSTS:150946

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

Process	Evidence Code	Pubs
involved_in epigenetic regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info

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

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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)

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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.