UniProtKB - Q8WTW4 (NPRL2_HUMAN)
GATOR complex protein NPRL2
NPRL2
Functioni
GO - Molecular functioni
- GTPase activator activity Source: UniProtKB-KW
- protein kinase activity Source: UniProtKB
GO - Biological processi
- cellular response to amino acid starvation Source: UniProtKB
- cellular response to nitrogen starvation Source: GO_Central
- negative regulation of kinase activity Source: UniProtKB
- negative regulation of TOR signaling Source: SGD
- positive regulation of autophagy Source: GO_Central
- regulation of autophagosome assembly Source: GO_Central
Keywordsi
Molecular function | GTPase activation |
Enzyme and pathway databases
PathwayCommonsi | Q8WTW4 |
Reactomei | R-HSA-9639288, Amino acids regulate mTORC1 |
SIGNORi | Q8WTW4 |
Names & Taxonomyi
Protein namesi | Recommended name: GATOR complex protein NPRL2CuratedAlternative name(s): Gene 21 protein1 Publication Short name: G21 protein1 Publication Nitrogen permease regulator 2-like protein1 Publication Short name: NPR2-like protein1 Publication Tumor suppressor candidate 41 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24969, NPRL2 |
MIMi | 607072, gene |
neXtProti | NX_Q8WTW4 |
VEuPathDBi | HostDB:ENSG00000114388.12 |
Subcellular locationi
Lysosome
- Lysosome membrane 1 Publication
Note: Localization to lysosomes is amino acid-independent.1 Publication
Lysosome
- lysosomal membrane Source: UniProtKB
Other locations
- GATOR1 complex Source: SGD
Keywords - Cellular componenti
Lysosome, MembranePathology & Biotechi
Involvement in diseasei
Epilepsy, familial focal, with variable foci 2 (FFEVF2)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077122 | 105 | L → P in FFEVF2. 1 PublicationCorresponds to variant dbSNP:rs886037965EnsemblClinVar. | 1 | |
Natural variantiVAR_077123 | 110 | T → S in FFEVF2; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_077124 | 198 | P → H in FFEVF2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745518585Ensembl. | 1 | |
Natural variantiVAR_077125 | 214 | D → H in FFEVF2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149128231Ensembl. | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Tumor suppressorOrganism-specific databases
DisGeNETi | 10641 |
MalaCardsi | NPRL2 |
MIMi | 617116, phenotype |
OpenTargetsi | ENSG00000114388 |
Orphaneti | 98820, Familial focal epilepsy with variable foci |
PharmGKBi | PA165697981 |
Miscellaneous databases
Pharosi | Q8WTW4, Tbio |
Genetic variation databases
BioMutai | NPRL2 |
DMDMi | 47117604 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000213319 | 1 – 380 | GATOR complex protein NPRL2Add BLAST | 380 |
Proteomic databases
EPDi | Q8WTW4 |
jPOSTi | Q8WTW4 |
MassIVEi | Q8WTW4 |
MaxQBi | Q8WTW4 |
PaxDbi | Q8WTW4 |
PeptideAtlasi | Q8WTW4 |
PRIDEi | Q8WTW4 |
ProteomicsDBi | 74610 [Q8WTW4-1] 74611 [Q8WTW4-2] |
PTM databases
iPTMneti | Q8WTW4 |
PhosphoSitePlusi | Q8WTW4 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000114388, Expressed in granulocyte and 133 other tissues |
ExpressionAtlasi | Q8WTW4, baseline and differential |
Genevisiblei | Q8WTW4, HS |
Organism-specific databases
HPAi | ENSG00000114388, Low tissue specificity |
Interactioni
Subunit structurei
Forms a heterodimer with NPRL3.
Interacts with PDPK1. Within the GATOR complex, component of the GATOR1 subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with RRAGA/RRAGC and RRAGB/RRAGC heterodimers.
3 PublicationsBinary interactionsi
Q8WTW4
With | #Exp. | IntAct |
---|---|---|
NPRL3 [Q12980] | 6 | EBI-1043552,EBI-2650314 |
Protein-protein interaction databases
BioGRIDi | 115885, 80 interactors |
CORUMi | Q8WTW4 |
DIPi | DIP-50746N |
IntActi | Q8WTW4, 15 interactors |
MINTi | Q8WTW4 |
STRINGi | 9606.ENSP00000232501 |
Miscellaneous databases
RNActi | Q8WTW4, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 133 | Interaction with PDPK11 PublicationAdd BLAST | 133 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3789, Eukaryota |
GeneTreei | ENSGT00390000001414 |
HOGENOMi | CLU_014995_0_0_1 |
InParanoidi | Q8WTW4 |
OMAi | YASMTHG |
OrthoDBi | 500740at2759 |
PhylomeDBi | Q8WTW4 |
TreeFami | TF106159 |
Family and domain databases
InterProi | View protein in InterPro IPR009348, NPR2 |
PANTHERi | PTHR12991, PTHR12991, 2 hits |
Pfami | View protein in Pfam PF06218, NPR2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGSGCRIECI FFSEFHPTLG PKITYQVPED FISRELFDTV QVYIITKPEL
60 70 80 90 100
QNKLITVTAM EKKLIGCPVC IEHKKYSRNA LLFNLGFVCD AQAKTCALEP
110 120 130 140 150
IVKKLAGYLT TLELESSFVS MEESKQKLVP IMTILLEELN ASGRCTLPID
160 170 180 190 200
ESNTIHLKVI EQRPDPPVAQ EYDVPVFTKD KEDFFNSQWD LTTQQILPYI
210 220 230 240 250
DGFRHIQKIS AEADVELNLV RIAIQNLLYY GVVTLVSILQ YSNVYCPTPK
260 270 280 290 300
VQDLVDDKSL QEACLSYVTK QGHKRASLRD VFQLYCSLSP GTTVRDLIGR
310 320 330 340 350
HPQQLQHVDE RKLIQFGLMK NLIRRLQKYP VRVTREEQSH PARLYTGCHS
360 370 380
YDEICCKTGM SYHELDERLE NDPNIIICWK
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF2Z2R8 | F2Z2R8_HUMAN | GATOR complex protein NPRL2 | NPRL2 | 87 | Annotation score: | ||
F2Z3D4 | F2Z3D4_HUMAN | GATOR complex protein NPRL2 | NPRL2 | 57 | Annotation score: | ||
A0A590UJY0 | A0A590UJY0_HUMAN | GATOR complex protein NPRL2 | NPRL2 | 130 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 17 | P → L in AAH21984 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077122 | 105 | L → P in FFEVF2. 1 PublicationCorresponds to variant dbSNP:rs886037965EnsemblClinVar. | 1 | |
Natural variantiVAR_077123 | 110 | T → S in FFEVF2; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_077124 | 198 | P → H in FFEVF2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745518585Ensembl. | 1 | |
Natural variantiVAR_077125 | 214 | D → H in FFEVF2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149128231Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010329 | 1 – 120 | Missing in isoform 2. 2 PublicationsAdd BLAST | 120 | |
Alternative sequenceiVSP_010330 | 312 – 323 | KLIQF…MKNLI → SEENLLGHLGVT in isoform 2. 2 PublicationsAdd BLAST | 12 | |
Alternative sequenceiVSP_010331 | 324 – 380 | Missing in isoform 2. 2 PublicationsAdd BLAST | 57 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF040707 mRNA Translation: AAC62535.1 AF040708 mRNA Translation: AAC62536.1 AK292196 mRNA Translation: BAF84885.1 CR542035 mRNA Translation: CAG46832.1 AC002481 Genomic DNA Translation: AAB67310.1 CH471055 Genomic DNA Translation: EAW65106.1 CH471055 Genomic DNA Translation: EAW65107.1 BC021984 mRNA Translation: AAH21984.1 BC056861 mRNA Translation: AAH56861.1 |
CCDSi | CCDS2826.1 [Q8WTW4-1] |
RefSeqi | NP_006536.3, NM_006545.4 [Q8WTW4-1] |
Genome annotation databases
Ensembli | ENST00000232501; ENSP00000232501; ENSG00000114388 [Q8WTW4-1] |
GeneIDi | 10641 |
KEGGi | hsa:10641 |
UCSCi | uc003daj.2, human [Q8WTW4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF040707 mRNA Translation: AAC62535.1 AF040708 mRNA Translation: AAC62536.1 AK292196 mRNA Translation: BAF84885.1 CR542035 mRNA Translation: CAG46832.1 AC002481 Genomic DNA Translation: AAB67310.1 CH471055 Genomic DNA Translation: EAW65106.1 CH471055 Genomic DNA Translation: EAW65107.1 BC021984 mRNA Translation: AAH21984.1 BC056861 mRNA Translation: AAH56861.1 |
CCDSi | CCDS2826.1 [Q8WTW4-1] |
RefSeqi | NP_006536.3, NM_006545.4 [Q8WTW4-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6CES | electron microscopy | 4.00 | N | 1-380 | [»] | |
6CET | electron microscopy | 4.40 | N | 1-380 | [»] | |
SMRi | Q8WTW4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115885, 80 interactors |
CORUMi | Q8WTW4 |
DIPi | DIP-50746N |
IntActi | Q8WTW4, 15 interactors |
MINTi | Q8WTW4 |
STRINGi | 9606.ENSP00000232501 |
PTM databases
iPTMneti | Q8WTW4 |
PhosphoSitePlusi | Q8WTW4 |
Genetic variation databases
BioMutai | NPRL2 |
DMDMi | 47117604 |
Proteomic databases
EPDi | Q8WTW4 |
jPOSTi | Q8WTW4 |
MassIVEi | Q8WTW4 |
MaxQBi | Q8WTW4 |
PaxDbi | Q8WTW4 |
PeptideAtlasi | Q8WTW4 |
PRIDEi | Q8WTW4 |
ProteomicsDBi | 74610 [Q8WTW4-1] 74611 [Q8WTW4-2] |
Protocols and materials databases
Antibodypediai | 30939, 273 antibodies |
DNASUi | 10641 |
Genome annotation databases
Ensembli | ENST00000232501; ENSP00000232501; ENSG00000114388 [Q8WTW4-1] |
GeneIDi | 10641 |
KEGGi | hsa:10641 |
UCSCi | uc003daj.2, human [Q8WTW4-1] |
Organism-specific databases
CTDi | 10641 |
DisGeNETi | 10641 |
GeneCardsi | NPRL2 |
HGNCi | HGNC:24969, NPRL2 |
HPAi | ENSG00000114388, Low tissue specificity |
MalaCardsi | NPRL2 |
MIMi | 607072, gene 617116, phenotype |
neXtProti | NX_Q8WTW4 |
OpenTargetsi | ENSG00000114388 |
Orphaneti | 98820, Familial focal epilepsy with variable foci |
PharmGKBi | PA165697981 |
VEuPathDBi | HostDB:ENSG00000114388.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3789, Eukaryota |
GeneTreei | ENSGT00390000001414 |
HOGENOMi | CLU_014995_0_0_1 |
InParanoidi | Q8WTW4 |
OMAi | YASMTHG |
OrthoDBi | 500740at2759 |
PhylomeDBi | Q8WTW4 |
TreeFami | TF106159 |
Enzyme and pathway databases
PathwayCommonsi | Q8WTW4 |
Reactomei | R-HSA-9639288, Amino acids regulate mTORC1 |
SIGNORi | Q8WTW4 |
Miscellaneous databases
BioGRID-ORCSi | 10641, 23 hits in 871 CRISPR screens |
ChiTaRSi | NPRL2, human |
GeneWikii | TUSC4 |
GenomeRNAii | 10641 |
Pharosi | Q8WTW4, Tbio |
PROi | PR:Q8WTW4 |
RNActi | Q8WTW4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000114388, Expressed in granulocyte and 133 other tissues |
ExpressionAtlasi | Q8WTW4, baseline and differential |
Genevisiblei | Q8WTW4, HS |
Family and domain databases
InterProi | View protein in InterPro IPR009348, NPR2 |
PANTHERi | PTHR12991, PTHR12991, 2 hits |
Pfami | View protein in Pfam PF06218, NPR2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NPRL2_HUMAN | |
Accessioni | Q8WTW4Primary (citable) accession number: Q8WTW4 Secondary accession number(s): A8K831 Q9Y497 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 10, 2004 |
Last sequence update: | May 10, 2004 | |
Last modified: | February 10, 2021 | |
This is version 149 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants