1. Gene
  2. UBR2 - ubiquitin protein ligase E3 component n-recognin 2 Gene

UBR2 - ubiquitin protein ligase E3 component n-recognin 2 Gene

中文名称:泛素蛋白连接酶 E3 组分 n-识别素 2

种属: Homo sapiens

同用名: C6orf133; bA49A4.1; dJ242G1.1; dJ392M17.3

基因 ID: 23304 | 基因类型: protein coding

关于 UBR2

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,564,029-42,693,505 (from NCBI)

This gene has 3 transcripts (splice variants), 219 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 7.8), spleen (RPKM 6.8) and 25 other tissues.

功能概要

该基因编码 N 末端规则蛋白水解途径的 E3 泛素连接酶,该途径靶向具有不稳定 N 末端残基的蛋白质,用于多聚泛素化和蛋白酶体介导的降解。可变剪接导致多个转录变体。[RefSeq 提供,2010 年 5 月]

This gene encodes an E3 ubiquitin Ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

UBR2 基因产物(3)

mRNA Protein Name
NM_001184801.2 NP_001171730.1 E3 ubiquitin-protein ligase UBR2 isoform 2
NM_001363705.2 NP_001350634.1 E3 ubiquitin-protein ligase UBR2 isoform 3
NM_015255.3 NP_056070.1 E3 ubiquitin-protein ligase UBR2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables L-leucine binding IDA
IDA: 通过直接分析推断
20298436 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22190034 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
15548684 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

UBR2 蛋白结构

zf-UBR

zf-UBR: Putative zinc finger in N-recognin (UBR box) (98 - 167)

ClpS

ClpS: ATP-dependent Clp protease adaptor protein ClpS (222 - 302)

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  • 1755 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase UBR2

RING-type E3 ubiquitin transferase UBR2

UBR2 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
种属间
UBR2 Q8IWV8 vif Human immunodeficiency virus P12504 22190034
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
Johanson-Blizzard Syndrome

JBS

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness

Johanson Blizzard Syndrome

Oligospermia
Retinitis Pigmentosa 61

RP61

Retinitis Pigmentosa, Type 61

Night Blindness, Congenital Stationary, Type 1d

Congenital Stationary Night Blindness 1d

CSNB1D

Csnb, Complete, Autosomal Recessive

Night Blindness, Congenital Stationary , 1d, Autosomal Recessive

Congenital Stationary Night Blindness 1d Autosomal Recessive

Night Blindness, Congenital Stationary, 1d

Complete Autosomal Recessive Csnb

Blindness, Night, Stationary, Congenital, Type 1d

Autoimmune Pancreatitis

Lymphoplasmocytic Sclerosing Pancreatitis

Aip

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
Macaca mulatta UBR2 VGNC VGNC:79318
Rattus norvegicus UBR2 RGD RGD:1593237
Canis familiaris UBR2 VGNC VGNC:48090
Felis catus UBR2 VGNC VGNC:66785
Bos taurus UBR2 VGNC VGNC:36617
Mus musculus UBR2 MGD MGI:1861099