2. Gene
  3. RC3H1 - ring finger and CCCH-type domains 1 Gene

RC3H1 - ring finger and CCCH-type domains 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：无名指和 CCCH 类型域 1

种属: Homo sapiens

同用名: FHL6; IMDSHY; RNF198; ROQUIN

基因 ID: 149041 | 基因类型: protein coding

关于 RC3H1

Cytogenetic location: 1q25.1 Genomic coordinates (GRCh38): 1:173,931,084-174,022,357 (from NCBI)

This gene has 6 transcripts (splice variants), 237 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 7.1), skin (RPKM 3.9) and 25 other tissues.

功能概要

该基因编码一种含有 RING 型和 C3H1 型锌指基序的蛋白质。编码的蛋白质识别并结合 mRNA 3' UTR 中的组成型衰变元件 (CDE) ，导致 mRNA 去腺苷酸化和降解。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

RC3H1 基因产物(4)

mRNA Protein Name
NM_001300850.1 NP_001287779.1 roquin-1 isoform a
NM_001300851.1 NP_001287780.1 roquin-1 isoform c
NM_001300852.1 NP_001287781.1 roquin-1 isoform d
NM_172071.4 NP_742068.1 roquin-1 isoform b
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 CCR4-NOT complex binding IMP
IMP: 通过突变表型推断
31636267 GOA
enables RNA stem-loop binding IDA
IDA: 通过直接分析推断
25504471 GOA
enables double-stranded RNA binding IDA
IDA: 通过直接分析推断
25026078 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25697406 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
26489670 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nuclear-transcribed mRNA catabolic process IDA
IDA: 通过直接分析推断
25026078 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
26489670 GOA
involved in regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IMP
IMP: 通过突变表型推断
31636267 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in P-body IMP
IMP: 通过突变表型推断
31636267 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

RC3H1 蛋白结构

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (414 - 440)

  • 0
  • 200
  • 400
  • 600
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  • 1000
  • 1133 a.a.
蛋白主名 其他名称

roquin-1

RING finger and C3H zinc finger protein 1

关联疾病

疾病名称 别名
Immune Dysregulation And Systemic Hyperinflammation Syndrome

Hemophagocytic Lymphohistiocytosis, Familial, 6

IMDYSHI

Hemophagocytic Lymphohistiocytosis, Familial, 6, Formerly

Fhl6, Formerly

Fhl6
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11777 RC3H1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus RC3H1 VGNC VGNC:106891
Felis catus RC3H1 VGNC VGNC:64540
Mus musculus RC3H1 MGD MGI:2685397
Canis familiaris RC3H1 VGNC VGNC:45435
Macaca mulatta RC3H1 VGNC VGNC:76861
Rattus norvegicus RC3H1 RGD RGD:1563512
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