2. Gene
  3. CELF3 - CUGBP Elav-like family member 3 Gene

CELF3 - CUGBP Elav-like family member 3 Gene

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

中文名称：CUGBP 类 Elav 家族成员 3

种属: Homo sapiens

同用名: CAGH4; ERDA4; ETR-1; TNRC4; BRUNOL1

基因 ID: 11189 | 基因类型: protein coding

关于 CELF3

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,700,058-151,716,803 (from NCBI)

This gene has 7 transcripts (splice variants), 278 orthologues and 6 paralogues. Biased expression in brain (RPKM 11.4), adrenal (RPKM 3.2) and 4 other tissues.

功能概要

CELF/BRUNOL 蛋白家族的成员包含两个 N 端 RNA 识别基序 (RRM) 结构域、一个 C 端 RRM 结构域，以及第二个和第三个 RRM 结构域之间的 160-230 aa 的不同片段。该蛋白家族的成员调节 pre-mRNA 可变剪接，也可能参与 mRNA 编辑和翻译。已在该基因中鉴定出编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2010 年 2 月]

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]

CELF3 基因产物(5)

mRNA Protein Name
NM_001172648.4 NP_001166119.1 CUGBP Elav-like family member 3 isoform 2
NM_001172649.4 NP_001166120.1 CUGBP Elav-like family member 3 isoform 3
NM_001291106.2 NP_001278035.1 CUGBP Elav-like family member 3 isoform 4
NM_001291107.2 NP_001278036.1 CUGBP Elav-like family member 3 isoform 5
NM_007185.7 NP_009116.3 CUGBP Elav-like family member 3 isoform 1
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 RNA binding IMP
IMP: 通过突变表型推断
17725984 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA splicing IMP
IMP: 通过突变表型推断
17725984 GOA
involved in positive regulation of mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
15009664 GOA
involved in regulation of alternative mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
11158314 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
17725984 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17725984 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

CELF3 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (9 - 76)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (97 - 161)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (382 - 451)

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

CUGBP Elav-like family member 3

CAG repeat domain

关联疾病

疾病名称 别名
Specific Language Impairment

Language Impairment, Specific
Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder
Palmoplantar Keratoderma, Bothnian Type

PPKB

Diffuse Palmoplantar Keratoderma, Bothnian Type

Bothnian Type Palmoplantar Keratoderma

Keratoderma, Palmoplantar, Bothnian Type

Palmoplantar Keratoderma, Nonepidermolytic
Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder
Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder
Speech Disorder

Speech Disorders
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-RS02461 CELF3 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CELF3 VGNC VGNC:60746
Canis familiaris CELF3 VGNC VGNC:39095
Bos taurus CELF3 VGNC VGNC:27168
Macaca mulatta CELF3 VGNC VGNC:70936
Mus musculus CELF3 MGD MGI:1926034
Rattus norvegicus CELF3 RGD RGD:1563168
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