1. Gene
  2. ELAVL3 - ELAV like RNA binding protein 3 Gene

ELAVL3 - ELAV like RNA binding protein 3 Gene

中文名称:ELAV 样 RNA 结合蛋白 3

种属: Homo sapiens

同用名: HUC; HUCL; PLE21

基因 ID: 1995 | 基因类型: protein coding

关于 ELAVL3

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:11,451,326-11,481,046 (from NCBI)

This gene has 4 transcripts (splice variants), 184 orthologues and 24 paralogues. Restricted expression toward brain (RPKM 22.9).

功能概要

作为 ELAVL 蛋白家族的成员,ELAV-like 3 是一种神经特异性 RNA 结合蛋白,包含三个 RNP 型 RNA 识别基序。观察到 ELAVL3 是副肿瘤性脑脊髓炎和感觉神经元病 (PEM/PSN) 患者血清中存在的抗 Hu 血清抗体识别的几种 Hu 抗原 (神经元特异性 RNA 结合蛋白) 之一,表明它在神经发生中起作用.已经为该基因发现了编码不同亚型的两个可变剪接的转录物变体。[RefSeq 提供,2008 年 7 月]

A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ELAVL3 基因产物(2)

mRNA Protein Name
NM_001420.4 NP_001411.2 ELAV-like protein 3 isoform 1
NM_032281.3 NP_115657.2 ELAV-like protein 3 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables mRNA 3'-UTR AU-rich region binding IDA
IDA: 通过直接分析推断
10710437 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
36950384 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

ELAVL3 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (41 - 111)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (127 - 190)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (286 - 355)

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

ELAV-like protein 3

ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)

ELAVL3 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
种属内
ELAVL3 Q14576 SYNGAP1 Homo sapiens Q96PV0
Anti Bait CoIP
37207277
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ELAVL3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71819 ELAVL3 Protein, Human (P.pastoris, His) Q14576 (M1-A367) ≥95%

关联疾病

疾病名称 别名
Sigmoid Disease

Sigmoid Diseases

Lambert-Eaton Myasthenic Syndrome

Lambert-Eaton Syndrome

Eaton-Lambert Syndrome

Lems

Lambert Eaton Myasthenic Syndrome

Eaton Lambert Syndrome

Lambert Eaton Syndrome

Myasthenic Syndrome Of Lambert-Eaton

Myasthenic-Myopathic Syndrome Of Lambert-Eaton

Lems - [Lambert-Eaton Myasthenic Syndrome]

Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Limbic Encephalitis
Paraneoplastic Cerebellar Degeneration

Pcd

Paraneoplastic Cerebellar Ataxia

Rapidely Progressive Cerebellar Syndrome

Subacute Cerebellar Degeneration

Bladder Carcinoma In Situ

Carcinoma In Situ Of Bladder

Bladder Ca In Situ

Flat Cis Of The Urinary Bladder

Carcinoma In Situ Of Urinary Bladder

Radiation Cystitis

Irradiation Cystitis

Neurogenic Bowel
Hyperinsulinemic Hypoglycemia, Familial, 4

Hyperinsulinism Due To Glutamodehydrogenase Deficiency

HHF4

Familial Hyperinsulinemic Hypoglycemia 4

Hyperinsulinemic Hypoglycemia Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Hyperinsulinism Due To Schad Deficiency

Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Congenital Hyperinsulinism

Schad Deficiency

Persistent Hyperinsulinemic Hypoglycemia Of Infancy

Phhi

3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Bladder Papillary Transitional Cell Neoplasm

Urinary Bladder Papillary Urothelial Neoplasm

Bladder Papillary Urothelial Neoplasm

Urinary Tract Papillary Transitional Cell Benign Neoplasm

Inverted Papilloma Of Urinary Tract

Papillary Transitional Cell Neoplasm Of The Urinary Tract

Urinary Tract Inverted Papilloma

Inverted Urothelial Papilloma

Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction

Chronic Intestinal Pseudo-Obstruction

Cipo

Neuronal Intestinal Dysplasia

Hollow Visceral Myopathy

Familial Visceral Neuropathy

Paralytic Ileus

Intestinal Pseudoobstruction

Chronic Idiopathic Intestinal Pseudo-Obstruction

Ciip

Congenital Short Bowel Syndrome

Enteric Neuropathy

Familial Visceral Myopathy

Ipo

Pseudo-Obstruction Of Intestine

Pseudointestinal Obstruction Syndrome

Pseudoobstructive Syndrome

Congenital Idiopathic Intestinal Pseudoobstruction

Visceral Myopathy, Familial

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 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
Rattus norvegicus ELAVL3 RGD RGD:628892
Felis catus ELAVL3 VGNC VGNC:61803
Mus musculus ELAVL3 MGD MGI:109157
Macaca mulatta ELAVL3 VGNC VGNC:72202
Bos taurus ELAVL3 VGNC VGNC:28425
Canis familiaris ELAVL3 VGNC VGNC:40297
Others ELAVL3 NCBI