RBBP5 - RB binding protein 5, histone lysine methyltransferase complex subunit Gene

中文名称：RB 结合蛋白 5，组蛋白赖氨酸甲基转移酶复合亚基

种属: Homo sapiens

同用名: RBQ3; SWD1

基因 ID: 5929 | 基因类型: protein coding

关于 RBBP5

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:205,086,142-205,121,978 (from NCBI)

This gene has 3 transcripts (splice variants), 209 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 6.5), lymph node (RPKM 6.0) and 25 other tissues.

功能概要

该基因编码一种普遍表达的核蛋白，属于 WD 重复蛋白的高度保守亚家族。编码的蛋白质直接与调节细胞增殖的视网膜母细胞瘤蛋白结合。它优先通过 E1A 结合口袋 B 与磷酸化不足的视网膜母细胞瘤蛋白相互作用。已针对该基因描述了编码不同蛋白质同种型的三种可变剪接转录物变体。[RefSeq 提供，2010 年 7 月]

This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]

RBBP5 基因产物(3)

mRNA	Protein	Name
NM_001193272.2	NP_001180201.1	retinoblastoma-binding protein 5 isoform 2
NM_001193273.2	NP_001180202.1	retinoblastoma-binding protein 5 isoform 3
NM_005057.4	NP_005048.2	retinoblastoma-binding protein 5 isoform 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 histone binding	IDA IDA: 通过直接分析推断	15960975	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12482968	GOA
enables transcription cis-regulatory region binding	IDA IDA: 通过直接分析推断	16603732	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within DNA damage response	IDA IDA: 通过直接分析推断	17500065	GOA
involved in response to estrogen	IDA IDA: 通过直接分析推断	16603732	GOA
involved in transcription initiation-coupled chromatin remodeling	IDA IDA: 通过直接分析推断	19556245	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of MLL1 complex	IDA IDA: 通过直接分析推断	15960975	GOA
part of MLL1 complex	IPI IPI: 通过物理相互作用推断	23508102	GOA
part of MLL1/2 complex	IPI IPI: 通过物理相互作用推断	23508102	GOA
part of MLL3/4 complex	IDA IDA: 通过直接分析推断	17500065	GOA
part of MLL3/4 complex	IPI IPI: 通过物理相互作用推断	23508102	GOA
part of Set1C/COMPASS complex	IDA IDA: 通过直接分析推断	17998332	GOA
part of Set1C/COMPASS complex	IPI IPI: 通过物理相互作用推断	23508102	GOA
part of histone methyltransferase complex	IDA IDA: 通过直接分析推断	17355966	GOA
located in nucleus	IDA IDA: 通过直接分析推断	15199122	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

RBBP5 蛋白结构

WD40

0
100
200
300
400
500
538 a.a.

蛋白主名

其他名称

retinoblastoma-binding protein 5

RBBP-5

RBBP5 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	RBBP5	Q15291	SETD1A	Homo sapiens	O15047	Anti Tag CoIP	33961781
Intra	RBBP5	Q15291	ASH2L	Homo sapiens	Q9UBL3	Anti Bait CoIP	16603732
Intra	RBBP5	Q15291	ASH2L	Homo sapiens	Q9UBL3	Anti Bait CoIP	17500065
Intra	RBBP5	Q15291	ASH2L	Homo sapiens	Q9UBL3	Anti Bait CoIP	17178841
Intra	RBBP5	Q15291	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17041588
Intra	RBBP5	Q15291	WDR5	Homo sapiens	P61964	ITC	21220120
Intra	RBBP5	Q15291	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17500065
Intra	RBBP5	Q15291	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17178841
Intra	RBBP5	Q15291	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17925232
Intra	RBBP5	Q15291	WDR5	Homo sapiens	P61964	Pull Down	17500065
Intra	RBBP5	Q15291	WDR5	Homo sapiens	P61964	Pull Down	21220120
Intra	RBBP5	Q15291	KMT2A	Homo sapiens	Q03164	Pull Down	15960975
Intra	RBBP5	Q15291	KMT2A	Homo sapiens	Q03164	Anti Tag CoIP	15960975
Intra	RBBP5	Q15291	KMT2A	Homo sapiens	Q03164	Anti Tag CoIP	33961781
Intra	RBBP5	Q15291	PAXIP1	Homo sapiens	Q6ZW49	Anti Bait CoIP	17500065
Intra	RBBP5	Q15291	PAXIP1	Homo sapiens	Q6ZW49	Anti Bait CoIP	17925232
Intra	RBBP5	Q15291	PAXIP1	Homo sapiens	Q6ZW49	Anti Bait CoIP	17178841
Intra	RBBP5	Q15291	PAXIP1	Homo sapiens	Q6ZW49	Anti Tag CoIP	33961781
Intra	RBBP5	Q15291	CXXC1	Homo sapiens	Q9P0U4	Anti Tag CoIP	33961781

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

Retinoblastoma

RB	Trilateral Retinoblastoma
RB1	Retinoblastoma, Trilateral
Neuroblastoma Of Retina	Rb - Retinoblastoma
Eye Cancer, Retinoblastoma	Retinal Cancer
Retinal Tumor	Glioma, Retinal
Non-Hereditary Retinoblastoma	Childhood Cancer Retinoblastoma
Malignant Neoplasm Of Retina	Retinal Neoplasms

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1	MEN1
Wermer Syndrome	Multiple Endocrine Neoplasia 1
Multiple Endocrine Neoplasia, Type 1	Men I
Endocrine Adenomatosis, Multiple	Mea I
Men Type I	Wermer'S Syndrome
Men1 Syndrome	Multiple Endocrine Adenomatosis
Endocrine Adenomatosis Multiple	Men 1
Familial Multiple Endocrine Neoplasia Type I	Neoplasia, Endocrine, Multiple, Type 1
Multiple Endocrine Neoplasia

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS11717	RBBP5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	RBBP5	RGD	RGD:1305532
Mus musculus	RBBP5	MGD	MGI:1918367
Felis catus	RBBP5	VGNC	VGNC:69257
Macaca mulatta	RBBP5	VGNC	VGNC:76676
Canis familiaris	RBBP5	VGNC	VGNC:53127
Bos taurus	RBBP5	VGNC	VGNC:50641
Others	RBBP5	NCBI

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