1. Gene
  2. RNF135 - ring finger protein 135 Gene

RNF135 - ring finger protein 135 Gene

中文名称:无名指蛋白 135

种属: Homo sapiens

同用名: L13; MMFD; REUL; Riplet

基因 ID: 84282 | 基因类型: protein coding

关于 RNF135

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,958,921-30,999,911 (from NCBI)

This gene has 6 transcripts (splice variants), 75 orthologues, 12 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 5.5), spleen (RPKM 5.5) and 25 other tissues.

功能概要

该基因编码的蛋白质包含一个环指结构域,该结构域存在于多种功能不同的蛋白质中,已知参与蛋白质-蛋白质和蛋白质-DNA 相互作用。该基因位于已知在神经纤维瘤病患者中经常被删除的染色体区域。已经报道了编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

RNF135 基因产物(3)

mRNA Protein Name
NM_001184992.2 NP_001171921.1 E3 ubiquitin-protein ligase RNF135 isoform 3
NM_032322.4 NP_115698.3 E3 ubiquitin-protein ligase RNF135 isoform 1
NM_197939.2 NP_922921.1 E3 ubiquitin-protein ligase RNF135 isoform 2
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 RIG-I binding IPI
IPI: 通过物理相互作用推断
23950712 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19017631 GOA
enables ribonucleoprotein complex binding IDA
IDA: 通过直接分析推断
31006531 GOA
enables ribonucleoprotein complex binding IPI
IPI: 通过物理相互作用推断
19881509 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
31006531 GOA
enables ubiquitin-protein transferase activity EXP
EXP: 通过实验结果推断
17392790 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
19484123 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RIG-I signaling pathway IDA
IDA: 通过直接分析推断
23950712 GOA
involved in RIG-I signaling pathway IMP
IMP: 通过突变表型推断
28469175 GOA
involved in antiviral innate immune response IMP
IMP: 通过突变表型推断
28469175 GOA
involved in free ubiquitin chain polymerization IDA
IDA: 通过直接分析推断
31006531 GOA
involved in positive regulation of interferon-beta production IMP
IMP: 通过突变表型推断
19017631 GOA
involved in protein K63-linked ubiquitination IDA
IDA: 通过直接分析推断
31006531 GOA
involved in protein homooligomerization IDA
IDA: 通过直接分析推断
31006531 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
31006531 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
19017631 GOA
involved in regulation of innate immune response IMP
IMP: 通过突变表型推断
19017631 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
19484123 GOA
located in cytoplasmic stress granule IDA
IDA: 通过直接分析推断
23950712 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
31006531 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

RNF135 蛋白结构

zf-C3HC4_4

zf-C3HC4_4: zinc finger of C3HC4-type, RING (21 - 62)

SPRY

SPRY: SPRY domain (310 - 417)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 432 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase RNF135

RIG-I E3 ubiquitin ligase

RNF135 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 RNF135 Q8IUD6 CTBP2 Homo sapiens P56545-3
Y2H Prey Pooling
32296183
Intra RNF135 Q8IUD6 CTBP2 Homo sapiens P56545-3
Y2H Array
32296183
Intra RNF135 Q8IUD6 TEPSIN Homo sapiens Q96N21
Y2H Array
32296183
Intra RNF135 Q8IUD6 TEPSIN Homo sapiens Q96N21
Validated Y2H
32296183
Intra RNF135 Q8IUD6 TEPSIN Homo sapiens Q96N21
Y2H Prey Pooling
32296183
Intra RNF135 Q8IUD6 CTNNAL1 Homo sapiens Q9UBT7
Anti Tag CoIP
33961781
Intra RNF135 Q8IUD6 CTNNAL1 Homo sapiens Q9UBT7
Validated Y2H
25416956
Intra RNF135 Q8IUD6 CTNNAL1 Homo sapiens Q9UBT7
Validated Y2H
32296183
Intra RNF135 Q8IUD6 CTNNAL1 Homo sapiens Q9UBT7
Y2H Array
25416956
Intra RNF135 Q8IUD6 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
25416956
Intra RNF135 Q8IUD6 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
32296183
Intra RNF135 Q8IUD6 GOLGA2 Homo sapiens Q08379
Y2H Array
25416956
Intra RNF135 Q8IUD6 GOLGA2 Homo sapiens Q08379
Y2H Array
32296183
Intra RNF135 Q8IUD6 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra RNF135 Q8IUD6 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra RNF135 Q8IUD6 RNF135 Homo sapiens Q8IUD6
Y2H Prey Pooling
32296183
Intra RNF135 Q8IUD6 RNF135 Homo sapiens Q8IUD6
Validated Y2H
32296183
Intra RNF135 Q8IUD6 RNF135 Homo sapiens Q8IUD6
Y2H Array
25416956
Intra RNF135 Q8IUD6 RNF135 Homo sapiens Q8IUD6
Y2H Array
32296183
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
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Neurofibromatosis

Neurofibromatoses

Acoustic Neurofibromatosis

Central Neurofibromatosis

Peripheral Neurofibromatosis

Recklinghausen'S Neurofibromatosis

Von Reklinghausen Disease

Neurofibromatosis Type 1

Chromosome 17q11.2 Deletion Syndrome

Nf1 Microdeletion Syndrome

17q11 Microdeletion Syndrome

Neurofibromatosis Type 1 Microdeletion Syndrome

Van Asperen Syndrome

Del(17)(Q11)

Monosomy 17q11

Chromosome 17q11.2 Deletion Syndrome, 1.4mb

Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 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
Canis familiaris RNF135 VGNC VGNC:82296
Bos taurus RNF135 VGNC VGNC:57150
Rattus norvegicus RNF135 RGD RGD:1305252
Mus musculus RNF135 MGD MGI:1919206
Others RNF135 NCBI