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  2. RBBP6 - RB binding protein 6, ubiquitin ligase Gene

RBBP6 - RB binding protein 6, ubiquitin ligase Gene

中文名称:RB 结合蛋白 6,泛素连接酶

种属: Homo sapiens

同用名: PACT; MY038; P2P-R; RBQ-1; SNAMA

基因 ID: 5930 | 基因类型: protein coding

关于 RBBP6

Cytogenetic location: 16p12.1 Genomic coordinates (GRCh38): 16:24,539,566-24,572,863 (from NCBI)

This gene has 14 transcripts (splice variants), 150 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 15.6), testis (RPKM 14.0) and 25 other tissues.

功能概要

视网膜母细胞瘤肿瘤抑制因子 (pRB) 蛋白与许多其他蛋白结合。在多种人类癌症中,pRB 抑制细胞增殖并失活。细胞周期依赖性磷酸化调节 pRB 的活性。该基因编码一种与磷酸化不足但不与磷酸化的 pRB 结合的蛋白质。已针对该基因发现了编码不同亚型的多个选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The retinoblastoma tumor suppressor (pRB) protein binds with many Other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RBBP6 基因产物(3)

mRNA Protein Name
NM_006910.5 NP_008841.2 E3 ubiquitin-protein ligase RBBP6 isoform 1
NM_018703.4 NP_061173.1 E3 ubiquitin-protein ligase RBBP6 isoform 2
NM_032626.6 NP_116015.2 E3 ubiquitin-protein ligase RBBP6 isoform 3
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 protein binding IPI
IPI: 通过物理相互作用推断
18624398 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
20873783 GOA
enables ubiquitin protein ligase activity IMP
IMP: 通过突变表型推断
24726359 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
18851979 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
24726359 GOA
involved in regulation of DNA replication IMP
IMP: 通过突变表型推断
24726359 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
18851979 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
24726359 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with centrosome IDA
IDA: 通过直接分析推断
20873783 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
20873783 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

RBBP6 蛋白结构

DWNN

DWNN: DWNN domain (4 - 76)

zf-CCHC

zf-CCHC: Zinc knuckle (160 - 175)

zf-C3HC4_2

zf-C3HC4_2: Zinc finger, C3HC4 type (RING finger) (259 - 299)

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  • 1792 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase RBBP6

RB-binding Q-protein 1

RBBP6 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
种属内
RBBP6 Q7Z6E9 SRSF7 Homo sapiens Q16629 18624398
种属内
RBBP6 Q7Z6E9 SRSF7 Homo sapiens Q16629
Y2H
18624398
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

Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Type 1 Diabetes Mellitus 20

Diabetes Mellitus, Insulin-Dependent, 20

IDDM20

T1D20

Insulin-Dependent Diabetes Mellitus 20

Diabetes Mellitus, Insulin-Dependent, Type 20

Leber Congenital Amaurosis 1

LCA1

Amaurosis Congenita Of Leber I

Lca

Retinal Blindness, Congenital

Crb

Leber Congenital Amaurosis Type I

Leber Congenital Amaurosis, Type 1

Amaurosis Congenita Of Leber, Type 1

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

直系同源

种属 基因名 来源 基因 ID
Felis catus RBBP6 VGNC VGNC:107813
Rattus norvegicus RBBP6 RGD RGD:1311964
Mus musculus RBBP6 MGD MGI:894835
Bos taurus RBBP6 VGNC VGNC:33771
Macaca mulatta RBBP6 VGNC VGNC:76677
Canis familiaris RBBP6 VGNC VGNC:45392