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

NPRL3 - NPR3 like, GATOR1 complex subunit Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MARE; NPR3; HS-40; RMD11; CGTHBA; FFEVF3; C16orf35

Gene ID: 8131 | Gene type: protein coding

About 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.

Summary

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

NPRL3 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19521502 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular response to amino acid starvation IDA
IDA: Inferred from direct assay
29590090 GOA
involved in cellular response to amino acid starvation IMP
IMP: Inferred from mutant phenotype
23723238 GOA
involved in negative regulation of TORC1 signaling IDA
IDA: Inferred from direct assay
29590090 GOA
Cellular Component GO Annotation Evidence Reference Source
part of GATOR1 complex IDA
IDA: Inferred from direct assay
29590090 GOA
part of GATOR1 complex IPI
IPI: Inferred from physical interaction
25263562 GOA
is active in lysosomal membrane IDA
IDA: Inferred from direct assay
28199306 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NPRL3 Protein Structure

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)

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  • 568 a.a.
Protein Preferred Names Protein Names

GATOR complex protein NPRL3

-14 gene protein

NPRL3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NPRL3 Q12980 NPRL2 Homo sapiens Q8WTW4
Anti Bait CoIP
28199315
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09501 NPRL3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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