1. Gene
  2. NPRL3 - NPR3 like, GATOR1 complex subunit Gene

NPRL3 - NPR3 like, GATOR1 complex subunit Gene

中文名称:NPR3 样,GATOR1 复合亚基

种属: Homo sapiens

同用名: MARE; NPR3; HS-40; RMD11; CGTHBA; FFEVF3; C16orf35

基因 ID: 8131 | 基因类型: protein coding

关于 NPRL3

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:85,386-138,673 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 11.3), ovary (RPKM 10.7) and 25 other tissues.

功能概要

所编码蛋白质的功能尚不清楚。[RefSeq 提供,2011 年 8 月]

The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]

NPRL3 基因产物(5)

mRNA Protein Name
NM_001039476.3 NP_001034565.1 GATOR complex protein NPRL3 isoform 2
NM_001077350.3 NP_001070818.1 GATOR complex protein NPRL3 isoform 1
NM_001243247.2 NP_001230176.1 GATOR complex protein NPRL3 isoform 3
NM_001243248.2 NP_001230177.1 GATOR complex protein NPRL3 isoform 4
NM_001243249.2 NP_001230178.1 GATOR complex protein NPRL3 isoform 4
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 protein binding IPI
IPI: 通过物理相互作用推断
19521502 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to amino acid starvation IDA
IDA: 通过直接分析推断
29590090 GOA
involved in cellular response to amino acid starvation IMP
IMP: 通过突变表型推断
23723238 GOA
involved in negative regulation of TORC1 signaling IDA
IDA: 通过直接分析推断
29590090 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of GATOR1 complex IDA
IDA: 通过直接分析推断
29590090 GOA
part of GATOR1 complex IPI
IPI: 通过物理相互作用推断
25263562 GOA
is active in lysosomal membrane IDA
IDA: 通过直接分析推断
28199306 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

NPRL3 蛋白结构

NPR3

NPR3: Nitrogen Permease regulator of amino acid transport activity 3 (64 - 102)

NPR3

NPR3: Nitrogen Permease regulator of amino acid transport activity 3 (108 - 418)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 568 a.a.
蛋白主名 其他名称

GATOR complex protein NPRL3

-14 gene protein

NPRL3 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
NPRL3 Q12980 NPRL2 Homo sapiens Q8WTW4 28199315
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Epilepsy, Familial Focal, With Variable Foci 3

FFEVF3

Epilepsy, Familial Focal, With Variable Foci 1

Ffevf

Familial Focal Epilepsy With Variable Foci

Epilepsy, Partial, With Variable Foci

Familial Partial Epilepsy With Variable Foci

FFEVF1

Fpevf

Partial Epilepsy With Variable Foci

Epilepsy, Familial Focal, With Variable Foci

Epilepsy, Familial Focal, With Variable Foci, Type 1

Generalized Epilepsy With Febrile Seizures Plus, Type 8

GEFSP8

Gefs+8

Generalized Epilepsy With Febrile Seizures Plus 8

Gefs+, Type 8

Generalised Epilepsy With Febrile Seizures Plus 8

Generalised Epilepsy With Febrile Seizures Plus Type 8

Generalized Epilepsy With Febrile Seizures Plus Type 8

Corneal Dystrophy, Fleck

Fleck Corneal Dystrophy

Fcd

CFD

Corneal Fleck Dystrophy

Francois-Neetens Speckled Corneal Dystrophy

Corneal Dystrophy, Francois-Neetens Speckled Or Flecked

Corneal Dystrophy Francois-Neetens Speckled Or Flecked

Dystrophy, Corneal, Fleck

Schizophrenia 13

SCZD13

Schizophrenia Susceptibility Locus, Chromosome 15q13-Q14-Related

Schizophrenia, Susceptibility To, 13

Generalized Epilepsy With Febrile Seizures Plus, Type 6

GEFSP6

Gefs+6

Generalized Epilepsy With Febrile Seizures Plus 6

Gefs+, Type 6

Generalised Epilepsy With Febrile Seizures Plus 6

Generalised Epilepsy With Febrile Seizures Plus Type 6

Generalized Epilepsy With Febrile Seizures Plus Type 6

Febrile Seizures, Familial, 7

FEB7

Febrile Convulsions, Familial, 7

Familial Febrile Seizures 7

Familial Febrile Convulsions 7

Febrile Seizures, Familial, 9

FEB9

Febrile Convulsions, Familial, 9

Familial Febrile Seizures 9

Familial Febrile Convulsions 9

Hemimegalencephaly

Unilateral Megalencephaly

Macrencephaly

Generalized Epilepsy With Febrile Seizures Plus, Type 4

GEFSP4

Gefs+4

Generalized Epilepsy With Febrile Seizures Plus 4

Gefs+, Type 4

Generalised Epilepsy With Febrile Seizures Plus 4

Generalised Epilepsy With Febrile Seizures Plus Type 4

Generalized Epilepsy With Febrile Seizures Plus Type 4

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16

Atr Syndrome Linked To Chromosome 16

Atr Syndrome, Deletion Type

Atr-16 Syndrome

Alpha Thalassemia-Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia/Mental Retardation Syndrome, Type 1

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

BBSOAS

Optic Atrophy-Intellectual Disability Syndrome

Stromal Dystrophy
Partial Motor Epilepsy

Epilepsy, Partial, Motor

Epilepsy, Focal Motor

Focal Motor Seizure

Hemoglobin H Disease

HBH

Hemoglobin H Disease, Nondeletional

Hemoglobin H Disease, Deletional

Alpha-Thalassemia Intermedia

Haemoglobin H Disease

Alpha-Thalassemia, Hemoglobin H Type

Hemoglobin H Disease, Deletional And Nondeletional

Alpha Thalassemia, Haemoglobin H Type

Alpha Thalassemia, Hemoglobin H Type

Haemoglobin H Disease, Deletional

Hbh Disease

Alpha-Thalassemia Hemoglobin H Type

Hemoglobin H Disease Deletional

Hemoglobin H Disease Non-Deletional

Alpha-Thalassemia

Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia

Alpha Thalassaemia Intermedia

Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

Fetal Hemoglobin Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin

Delta-Beta-Thalassemia

Delta-Beta Thalassemia

Delta Beta-Thalassemia

HBFQTL1

Hemoglobin F, Hereditary Persistence Of

Hpfh

Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related

Hemoglobin, Fetal, Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin Thalassemia

Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]

Fetal Haemoglobin

Persistence Of Fetal Haemoglobin

Persistent Haemoglobin F

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Hemoglobinopathy

Hemoglobinopathies

Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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 NPRL3 MGD MGI:109258
Felis catus NPRL3 VGNC VGNC:63874
Rattus norvegicus NPRL3 RGD RGD:1308665
Canis familiaris NPRL3 VGNC VGNC:43931
Bos taurus NPRL3 VGNC VGNC:32215
Macaca mulatta NPRL3 VGNC VGNC:75173