CBX1 - chromobox 1 Gene

Homo sapiens

Also known as CBX; M31; MOD1; p25beta; HP1-BETA; HP1Hsbeta; HP1Hs-beta

Gene ID: 10951 | Gene type: protein coding

About CBX1

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,070,059-48,101,478 (from NCBI)

This gene has 6 transcripts (splice variants), 257 orthologues and 8 paralogues. Ubiquitous expression in testis (RPKM 37.6), brain (RPKM 33.7) and 24 other tissues.

Summary

This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

CBX1 Products(2)

mRNA	Protein	Name
NM_001127228.2	NP_001120700.1	chromobox protein homolog 1
NM_006807.5	NP_006798.1	chromobox protein homolog 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	19486527	GOA
enables histone methyltransferase binding	IPI IPI: Inferred from physical interaction	19486527	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9636146	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	27248496	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	11101528	GOA
located in chromosome, centromeric region	IDA IDA: Inferred from direct assay	8287692	GOA
colocalizes with chromosome, telomeric region	IDA IDA: Inferred from direct assay	24270157	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21383955	GOA
located in site of DNA damage	IMP IMP: Inferred from mutant phenotype	27248496	GOA
located in spindle	IDA IDA: Inferred from direct assay	11101528	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CBX1 Protein Structure

Chromo

Chromo_shadow

0
100
185 a.a.

Protein Preferred Names

Protein Names

chromobox protein homolog 1

HP1 beta homolog

CBX1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CBX1	P83916	SORL1	Homo sapiens	Q92673	Y2H Array	32814053
Intra	CBX1	P83916	SORL1	Homo sapiens	Q92673	Y2H Pooling	32814053
Intra	CBX1	P83916	SORL1	Homo sapiens	Q92673	Validated Y2H	32814053
Intra	CBX1	P83916	ADNP	Homo sapiens	Q9H2P0	TAP	21888893
Intra	CBX1	P83916	ADNP	Homo sapiens	Q9H2P0	Anti Tag CoIP	35271311
Intra	CBX1	P83916	ADNP	Homo sapiens	Q9H2P0	TAP	24981860
Intra	CBX1	P83916	ADNP	Homo sapiens	Q9H2P0	Anti Tag CoIP	21888893
Intra	CBX1	P83916	ADNP	Homo sapiens	Q9H2P0	TAP	27705803
Intra	CBX1	P83916	NR2F6	Homo sapiens	P10588	TAP	20195357
Intra	CBX1	P83916	NR2F6	Homo sapiens	P10588	Display Tech	20195357
Intra	CBX1	P83916	ADNP2	Homo sapiens	Q6IQ32	TAP	21888893
Intra	CBX1	P83916	ADNP2	Homo sapiens	Q6IQ32	Anti Tag CoIP	35271311
Intra	CBX1	P83916	ADNP2	Homo sapiens	Q6IQ32	TAP	24981860
Intra	CBX1	P83916	ADNP2	Homo sapiens	Q6IQ32	TAP	27705803
Intra	CBX1	P83916	EMSY	Homo sapiens	Q7Z589	X-Ray Diffraction	16615912
Intra	CBX1	P83916	EMSY	Homo sapiens	Q7Z589	Pull Down	16615912
Intra	CBX1	P83916	EMSY	Homo sapiens	Q7Z589	GMS	16615912
Intra	CBX1	P83916	UCHL1	Homo sapiens	P09936	Y2H Pooling	16169070
Intra	CBX1	P83916	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	CBX1	P83916	BAHD1	Homo sapiens	Q8TBE0	Validated Y2H	32296183
Intra	CBX1	P83916	H3C1	Homo sapiens	P68431	Far-WB	16415788
Intra	CBX1	P83916	H3C1	Homo sapiens	P68431	Protein Array	20871592
Intra	CBX1	P83916	H3C1	Homo sapiens	P68431	SPR	16415788
Intra	CBX1	P83916	H3C1	Homo sapiens	P68431	Pull Down	11242053
Intra	CBX1	P83916	H3C1	Homo sapiens	P68431	Pull Down	16415788
Intra	CBX1	P83916	ZNF280C	Homo sapiens	Q8ND82	Anti Tag CoIP	35271311
Intra	CBX1	P83916	ZNF280C	Homo sapiens	Q8ND82	TAP	27705803
Intra	CBX1	P83916	ZNF280C	Homo sapiens	Q8ND82	Validated Y2H	32296183
Intra	CBX1	P83916	SGO1	Homo sapiens	Q5FBB7	ITC	21346195
Intra	CBX1	P83916	SGO1	Homo sapiens	Q5FBB7	X-Ray Diffraction	21346195

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1	HP1
Glycolic Aciduria	Alanine-Glyoxylate Aminotransferase Deficiency
Hepatic Agt Deficiency	Oxalosis I
Primary Hyperoxaluria, Type I	Serine:Pyruvate Aminotransferase Deficiency
Hyperoxaluria, Primary, Type 1	Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency	Serine Pyruvate Aminotransferase Deficiency
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Oxalosis 1
Hyperoxaluria Primary 1	Hyperoxaluria Primary Type I
Ph1	Primary Hyperoxaluria Type I
Oxalosis Type 1	2-Oxoglutarate Glyoxylate Carboligase Deficiency

Hutchinson-Gilford Progeria Syndrome

Progeria	HGPS
Hutchinson-Gilford Syndrome	Hutchinson-Gilford Progeria
Hutchinson Gilford Syndrome	Hutchinson Gilford Progeria Syndrome
Hutchinson-Gilford Disease	Progeria Of Childhood
Hutchinson-Gilford-Progeria Syndrome

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02008	CBX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CBX1	MGD	MGI:105369
Canis familiaris	CBX1	VGNC	VGNC:38766
Felis catus	CBX1	VGNC	VGNC:98770
Bos taurus	CBX1	VGNC	VGNC:26816
Rattus norvegicus	CBX1	RGD	RGD:1310714

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