1. Gene
  2. CNTFR - ciliary neurotrophic factor receptor Gene

CNTFR - ciliary neurotrophic factor receptor Gene

中文名称:睫状神经营养因子受体

种属: Homo sapiens

基因 ID: 1271 | 基因类型: protein coding

关于 CNTFR

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,551,433-34,590,852 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues and 23 paralogues. Biased expression in fat (RPKM 23.5), brain (RPKM 9.3) and 10 other tissues.

功能概要

该基因编码 1 型细胞因子受体家族的成员。编码的蛋白质是睫状神经营养因子三联受体的配体特异性成分,在神经元细胞存活、分化和基因表达中起着关键作用。睫状神经营养因子与编码蛋白的结合募集受体 gp130 和白血病抑制因子受体的跨膜成分,促进信号转导。该基因中的单核苷酸多态性可能与肌肉力量的变化以及进食障碍的早期发作有关。已观察到该基因的可变剪接转录物变体。[RefSeq 提供,2011 年 5 月]

This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and gene expression. Binding of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the receptor, gp130 and Leukemia Inhibitory Factor receptor, facilitating signal transduction. Single nucleotide polymorphisms in this gene may be associated with variations in muscle strength, as well as early onset of eating disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]

CNTFR 基因产物(3)

mRNA Protein Name
NM_001207011.2 NP_001193940.1 ciliary neurotrophic factor receptor subunit alpha preproprotein
NM_001842.5 NP_001833.1 ciliary neurotrophic factor receptor subunit alpha preproprotein
NM_147164.3 NP_671693.1 ciliary neurotrophic factor receptor subunit alpha preproprotein
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
contributes to ciliary neurotrophic factor receptor activity IDA
IDA: 通过直接分析推断
12643274 GOA
enables cytokine binding IPI
IPI: 通过物理相互作用推断
15272019 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18775332 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
12707266 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ciliary neurotrophic factor-mediated signaling pathway IDA
IDA: 通过直接分析推断
12643274 GOA
involved in negative regulation of neuron apoptotic process IMP
IMP: 通过突变表型推断
19386761 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CNTFR-CLCF1 complex IDA
IDA: 通过直接分析推断
11285233 GOA
located in apical plasma membrane IDA
IDA: 通过直接分析推断
21912637 GOA
part of ciliary neurotrophic factor receptor complex IDA
IDA: 通过直接分析推断
12643274 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

CNTFR 蛋白结构

fn3

fn3: Fibronectin type III domain (205 - 291)

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

ciliary neurotrophic factor receptor subunit alpha

CNTF receptor subunit alpha

CNTFR 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
CNTFR P26992 CNTF Homo sapiens P26441
ITC
18775332
种属内
CNTFR P26992 CNTF Homo sapiens P26441
GMS
18775332
种属内
CNTFR P26992 SORL1 Homo sapiens Q92673 26858303
种属内
CNTFR P26992 SORL1 Homo sapiens Q92673 26858303
种属内
CNTFR P26992 SORL1 Homo sapiens Q92673 26858303
种属内
CNTFR P26992 SORL1 Homo sapiens Q92673
SPR
26858303
种属内
CNTFR P26992 SORL1 Homo sapiens Q92673 26858303
种属内
CNTFR P26992 Q9UBD9-PRO_0000015616 Homo sapiens Q9UBD9-PRO_0000015616
SPR
26858303
种属内
CNTFR P26992 Q9UBD9-PRO_0000015616 Homo sapiens Q9UBD9-PRO_0000015616 26858303
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CNTFR 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76275 CNTFR alpha Protein, Human (sf9, His) P26992 (Q23-P346) ≥95%

关联疾病

疾病名称 别名
Cold-Induced Sweating Syndrome

Crisponi Syndrome

Sohar-Crisponi Syndrome

Ciss

Cntf Receptor-Related Disorders

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Sweating Syndrome, Cold-Induced

Crisponi/Cold-Induced Sweating Syndrome 1

Crisponi Syndrome

Cold-Induced Sweating Syndrome 1

CISS1

Sohar-Crisponi Syndrome

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Muscle Contractions Tetanoform With Characteristic Face Camptodactyly Hyperthermia And Sudden Death

Crisponi/Cold-Induced Sweating Syndrome 2

Cold-Induced Sweating Syndrome 2

CISS2

Sweating Syndrome, Cold-Induced, Type 2

Hyper Ige Recurrent Infection Syndrome 4
Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11

DEE11

Eiee11

Developmental And Epileptic Encephalopathy, 11

Early Infantile Epileptic Encephalopathy 11

Encephalopathy, Developmental And Epileptic, Type 11

Postsurgical Hypothyroidism

Postoperative Hypothyroidism

Post-Surgical Hypothyroidism

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

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 CNTFR VGNC VGNC:39430
Felis catus CNTFR VGNC VGNC:61035
Macaca mulatta CNTFR VGNC VGNC:71282
Rattus norvegicus CNTFR RGD RGD:1303100
Mus musculus CNTFR MGD MGI:99605
Bos taurus CNTFR VGNC VGNC:27535
Others CNTFR NCBI