CGGBP1 - CGG triplet repeat binding protein 1 Gene

Also Known as CGGBP; p20-CGGBP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8545

About CGGBP1

Cytogenetic location: 3p11.1 Genomic coordinates (GRCh38): 3:88,051,950-88,149,870 (from NCBI)

This gene has 7 transcripts (splice variants) and 128 orthologues. Ubiquitous expression in lymph node (RPKM 30.3), thyroid (RPKM 26.5) and 25 other tissues.

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]

CGGBP1 Products (3)

mRNA Protein Name
NM_001008390.2 NP_001008391.1 CGG triplet repeat-binding protein 1
NM_001195308.2 NP_001182237.1 CGG triplet repeat-binding protein 1
NM_003663.4 NP_003654.3 CGG triplet repeat-binding protein 1
Protein Preferred Names Protein Names

CGG triplet repeat-binding protein 1

  • 20 kDa CGG-binding protein

CGGBP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CGGBP1 Q9UFW8 REL Homo sapiens Q04864-2 32296183
Intra
CGGBP1 Q9UFW8 REL Homo sapiens Q04864-2 32296183
Intra
CGGBP1 Q9UFW8 REL Homo sapiens Q04864 25416956
Intra
CGGBP1 Q9UFW8 REL Homo sapiens Q04864 25416956
Intra
CGGBP1 Q9UFW8 PIAS2 Homo sapiens O75928-2 32296183
Intra
CGGBP1 Q9UFW8 PIAS2 Homo sapiens O75928-2 32296183
Intra
CGGBP1 Q9UFW8 MRM1 Homo sapiens Q6IN84 32296183
Intra
CGGBP1 Q9UFW8 MRM1 Homo sapiens Q6IN84 32296183
Intra
CGGBP1 Q9UFW8 CGGBP1 Homo sapiens Q9UFW8 32296183
Intra
CGGBP1 Q9UFW8 CGGBP1 Homo sapiens Q9UFW8 32296183
Intra
CGGBP1 Q9UFW8 CGGBP1 Homo sapiens Q9UFW8 25416956
Intra
CGGBP1 Q9UFW8 CGGBP1 Homo sapiens Q9UFW8 32296183
Intra
CGGBP1 Q9UFW8 FAM124A Homo sapiens Q86V42 25416956
Intra
CGGBP1 Q9UFW8 GORASP2 Homo sapiens Q9H8Y8 32296183
Intra
CGGBP1 Q9UFW8 GORASP2 Homo sapiens Q9H8Y8 32296183
Intra
CGGBP1 Q9UFW8 PAX6 Homo sapiens P26367 32296183
Intra
CGGBP1 Q9UFW8 PAX6 Homo sapiens P26367 32296183
Intra
CGGBP1 Q9UFW8 PICK1 Homo sapiens Q9NRD5 32296183
Intra
CGGBP1 Q9UFW8 PICK1 Homo sapiens Q9NRD5 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Fragile X Syndrome
  • FXS

  • Martin-Bell Syndrome

  • Fraxa Syndrome

  • Marker X Syndrome

  • X-Linked Mental Retardation And Macroorchidism

  • Fragile X Mental Retardation Syndrome

  • Fra Syndrome

  • Mental Retardation, X-Linked, Associated With Marxq28

  • X-Linked Intellectual Disability And Macroorchidism

  • Frax Syndrome

  • Symptomatic Form Of Fragile X Syndrome In Female Carriers

  • Fragile-X Syndrome

  • Fraxe Syndrome

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
  • Northern Epilepsy

  • Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant

  • Epmr

  • Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type

  • Northern Epilepsy Syndrome

  • Epilepsy, Progressive, With Mental Retardation

  • Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

  • Progressive Epilepsy With Mental Retardation, Northern Epilepsy

  • Cln8 Disease, Northern Epilepsy Variant

  • Ncl, Northern Epilepsy Variant

  • Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

  • CLN8NE

  • Ceroid Lipofuscinosis, Neuronal, 8

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus CGGBP1 VGNC VGNC:102666
Rattus norvegicus CGGBP1 RGD RGD:1308129
Macaca mulatta CGGBP1 VGNC VGNC:84203
Canis familiaris CGGBP1 VGNC VGNC:39182
Bos taurus CGGBP1 VGNC VGNC:106690
Mus musculus CGGBP1 MGD MGI:2146370
Others CGGBP1 NCBI