NPRL3 - NPR3 like, GATOR1 complex subunit Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8131

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	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19521502	GOA

Biological Process GO Annotation	Evidence	Références	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	Références	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

0
100
200
300
400
500
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	Références
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS09501	NPRL3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20455	Nprl3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26964	Nprl3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NPRL3	NCBI