1. Gene
  2. RNF168 - ring finger protein 168 Gene

RNF168 - ring finger protein 168 Gene

中文名称:无名指蛋白 168

种属: Homo sapiens

同用名: RIDL; hRNF168

基因 ID: 165918 | 基因类型: protein coding

关于 RNF168

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:196,468,783-196,503,768 (from NCBI)

This gene has 2 transcripts (splice variants), 192 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in testis (RPKM 13.5), bone marrow (RPKM 9.5) and 24 other tissues.

功能概要

该基因编码包含无名指的 E3 泛素连接酶蛋白,无名指是存在于多种功能不同的蛋白质中的基序,已知参与蛋白质-DNA 和蛋白质-蛋白质相互作用。该蛋白质参与 DNA 双链断裂 (DSB) 修复。该基因的突变会导致 Riddle 综合征。[RefSeq 提供,2011 年 9 月]

This gene encodes an E3 ubiquitin Ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]

RNF168 基因产物(1)

mRNA Protein Name
NM_152617.4 NP_689830.2 E3 ubiquitin-protein ligase RNF168

RNF168 蛋白结构

zf-C3HC4_2

zf-C3HC4_2: Zinc finger, C3HC4 type (RING finger) (16 - 54)

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  • 571 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase RNF168

RING-type E3 ubiquitin transferase RNF168

RNF168 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 RNF168 Q8IYW5 UBE2N Homo sapiens P61088
Anti Bait CoIP
19203578
Intra RNF168 Q8IYW5 TRIM8 Homo sapiens Q9BZR9
Y2H Array
32296183
Intra RNF168 Q8IYW5 TRIM8 Homo sapiens Q9BZR9
Y2H Prey Pooling
32296183
Intra RNF168 Q8IYW5 TRIM8 Homo sapiens Q9BZR9
Validated Y2H
32296183
Intra RNF168 Q8IYW5 ALAS1 Homo sapiens P13196
Y2H Prey Pooling
32296183
Intra RNF168 Q8IYW5 ALAS1 Homo sapiens P13196
Y2H Array
32296183
Intra RNF168 Q8IYW5 RNF11 Homo sapiens Q9Y3C5
Y2H
15231748
Intra RNF168 Q8IYW5 H1-0 Homo sapiens P07305
Pull Down
26503038
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
Riddle Syndrome

RIDL

Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome

Rnf168 Deficiency

Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties

Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties

Immunodeficiency 46

Tfrc-Related Combined Immunodeficiency

IMD46

Cid Due To Tfrc Deficiency

Combined Immunodeficiency Due To Tfrc Deficiency

Chromosome 3q29 Duplication Syndrome

Chromosome 3q29 Microduplication Syndrome

Trisomy 3q29

Microduplication 3q29 Syndrome

3q29 Microduplication

3q29 Microduplication Syndrome

3q29 Interstitial Microduplication

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Agammaglobulinemia 4, Autosomal Recessive

Agammaglobulinemia 4

AGM4

Agammaglobulinemia, Autosomal Recessive, Due To Blnk Defect

B Cell Linker Protein Deficiency

B-Cell Linker Protein Deficiency

Blnk Deficiency

Agammaglobulinemia Autosomal Recessive Due To Blnk Defect

Agammaglobulinemia, Type 4, Autosomal Recessive

Lig4 Syndrome

Dna Ligase Iv Deficiency

Ligase 4 Syndrome

LIG4S

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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
Rattus norvegicus RNF168 RGD RGD:1585168
Bos taurus RNF168 VGNC VGNC:97307
Macaca mulatta RNF168 VGNC VGNC:76840
Felis catus RNF168 VGNC VGNC:101463
Mus musculus RNF168 MGD MGI:1917488
Canis familiaris RNF168 VGNC VGNC:45643