CBX1 - chromobox 1 Gene

中文名称：色盒 1

种属: Homo sapiens

同用名: CBX; M31; MOD1; p25beta; HP1-BETA; HP1Hsbeta; HP1Hs-beta

基因 ID: 10951 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种高度保守的非组蛋白，它是异染色质蛋白家族的一员。该蛋白质富含异染色质并与着丝粒相关。该蛋白质具有一个 N 端染色质域，可通过甲基化赖氨酸残基与组蛋白结合，以及一个 C 端染色质阴影域 (CSD) ，负责同源二聚化以及与许多染色质相关非组蛋白的相互作用。该蛋白可能在染色质结构和基因表达的表观遗传控制中发挥重要作用。几个相关的假基因位于染色体 1、3 和 X 上。已鉴定出编码相同蛋白质的多个可变剪接变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(2)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables enzyme binding	IPI IPI: 通过物理相互作用推断	19486527	GOA
enables histone methyltransferase binding	IPI IPI: 通过物理相互作用推断	19486527	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9636146	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IMP IMP: 通过突变表型推断	27248496	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromatin	IDA IDA: 通过直接分析推断	11101528	GOA
located in chromosome, centromeric region	IDA IDA: 通过直接分析推断	8287692	GOA
colocalizes with chromosome, telomeric region	IDA IDA: 通过直接分析推断	24270157	GOA
located in nucleus	IDA IDA: 通过直接分析推断	21383955	GOA
located in site of DNA damage	IMP IMP: 通过突变表型推断	27248496	GOA
located in spindle	IDA IDA: 通过直接分析推断	11101528	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CBX1 蛋白结构

Chromo

Chromo_shadow

0
100
185 a.a.

蛋白主名

其他名称

chromobox protein homolog 1

HP1 beta homolog

CBX1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02008	CBX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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