1. Gene
  2. NEMF - nuclear export mediator factor Gene

NEMF - nuclear export mediator factor Gene

中文名称:核出口中介因子

种属: Homo sapiens

同用名: RQC2; IDDSAPN; NY-CO-1; SDCCAG1

基因 ID: 9147 | 基因类型: protein coding

关于 NEMF

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,782,083-49,852,788 (from NCBI)

This gene has 15 transcripts (splice variants), 203 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 12.2), thyroid (RPKM 10.8) and 25 other tissues.

功能概要

该基因编码核糖体质量控制复合物的一个组成部分。编码的蛋白质有助于泛素连接酶李斯特素对停滞的 60S 亚基的识别和泛素化。果蝇中的一种类似蛋白质起着肿瘤抑制因子的作用。[RefSeq 提供,2016 年 7 月]

This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin Ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]

NEMF 基因产物(2)

mRNA Protein Name
NM_001301732.3 NP_001288661.2 ribosome quality control complex subunit NEMF isoform 2
NM_004713.6 NP_004704.3 ribosome quality control complex subunit NEMF 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 alpha-aminoacyl-tRNA binding IDA
IDA: 通过直接分析推断
33406423 GOA
enables ribosomal large subunit binding IDA
IDA: 通过直接分析推断
25578875 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in CAT tailing IDA
IDA: 通过直接分析推断
33406423 GOA
involved in nuclear export IMP
IMP: 通过突变表型推断
16103875 GOA
involved in protein-containing complex assembly IMP
IMP: 通过突变表型推断
25578875 GOA
involved in rescue of stalled ribosome IDA
IDA: 通过直接分析推断
25578875 GOA
involved in ribosome-associated ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
25578875 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of RQC complex IDA
IDA: 通过直接分析推断
25578875 GOA
located in cytosol IDA
IDA: 通过直接分析推断
25578875 GOA
is active in cytosolic ribosome IDA
IDA: 通过直接分析推断
25578875 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

NEMF 蛋白结构

FbpA

FbpA: Fibronectin-binding protein A N-terminus (FbpA) (7 - 513)

DUF814

DUF814: Domain of unknown function (DUF814) (532 - 630)

DUF3441

DUF3441: Domain of unknown function (DUF3441) (966 - 1068)

  • 0
  • 200
  • 400
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  • 800
  • 1000
  • 1076 a.a.
蛋白主名 其他名称

ribosome quality control complex subunit NEMF

New-York Colon 1

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy

IDDSAPN

Intellectual Developmental Disorder, Speech Delay, Axonal Peripheral Neuropathy

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Axonal Neuropathy
Polymicrogyria, Bilateral Temporooccipital

Bilateral Parasagittal Parieto-Occipital Polymicrogyria

BTOP

Bilateral Temporooccipital Polymicrogyria

Polymicrogyria

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Mus musculus NEMF MGD MGI:1918305
Macaca mulatta NEMF VGNC VGNC:84407
Canis familiaris NEMF VGNC VGNC:43741
Bos taurus NEMF VGNC VGNC:32004
Felis catus NEMF VGNC VGNC:63775
Rattus norvegicus NEMF RGD RGD:2315525