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CGGBP1 - CGG triplet repeat binding protein 1 Gene

Also Known as CGGBP; p20-CGGBP

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	CGGBP1	Q9UFW8	REL	Homo sapiens	Q04864-2	Y2H Array	32296183
Intra	CGGBP1	Q9UFW8	REL	Homo sapiens	Q04864-2	Y2H Prey Pooling	32296183
Intra	CGGBP1	Q9UFW8	REL	Homo sapiens	Q04864	Y2H Prey Pooling	25416956
Intra	CGGBP1	Q9UFW8	REL	Homo sapiens	Q04864	Validated Y2H	25416956
Intra	CGGBP1	Q9UFW8	PIAS2	Homo sapiens	O75928-2	Y2H Array	32296183
Intra	CGGBP1	Q9UFW8	PIAS2	Homo sapiens	O75928-2	Y2H Prey Pooling	32296183
Intra	CGGBP1	Q9UFW8	MRM1	Homo sapiens	Q6IN84	Y2H Prey Pooling	32296183
Intra	CGGBP1	Q9UFW8	MRM1	Homo sapiens	Q6IN84	Y2H Array	32296183
Intra	CGGBP1	Q9UFW8	CGGBP1	Homo sapiens	Q9UFW8	Y2H Prey Pooling	32296183
Intra	CGGBP1	Q9UFW8	CGGBP1	Homo sapiens	Q9UFW8	Validated Y2H	32296183
Intra	CGGBP1	Q9UFW8	CGGBP1	Homo sapiens	Q9UFW8	Y2H Array	25416956
Intra	CGGBP1	Q9UFW8	CGGBP1	Homo sapiens	Q9UFW8	Y2H Array	32296183
Intra	CGGBP1	Q9UFW8	FAM124A	Homo sapiens	Q86V42	Validated Y2H	25416956
Intra	CGGBP1	Q9UFW8	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	32296183
Intra	CGGBP1	Q9UFW8	GORASP2	Homo sapiens	Q9H8Y8	Y2H Prey Pooling	32296183
Intra	CGGBP1	Q9UFW8	PAX6	Homo sapiens	P26367	Y2H Array	32296183
Intra	CGGBP1	Q9UFW8	PAX6	Homo sapiens	P26367	Y2H Prey Pooling	32296183
Intra	CGGBP1	Q9UFW8	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183
Intra	CGGBP1	Q9UFW8	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS02584	CGGBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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