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UniProtKB - Q8WTW4 (NPRL2_HUMAN)

Entry version 146 (17 Jun 2020)
Sequence version 2 (10 May 2004)
Previous versions | rss
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Protein

GATOR complex protein NPRL2

Gene

NPRL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.1 Publication
Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling. Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at 'Tyr-9', 'Tyr-373' and 'Tyr-376' residues. May act as a tumor suppressor. Suppresses cell growth and enhances sensitivity to various anticancer drugs.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9639288 Amino acids regulate mTORC1

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8WTW4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
GATOR complex protein NPRL2Curated
Alternative 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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NPRL2Imported
Synonyms:TUSC41 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000114388.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:24969 NPRL2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607072 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WTW4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins, including NPRL2, are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events. Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks mTORC1 inactivation following amino acid withdrawal (PubMed:23723238).1 Publication
Epilepsy, familial focal, with variable foci 2 (FFEVF2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077122105L → P in FFEVF2. 1 PublicationCorresponds to variant dbSNP:rs886037965EnsemblClinVar.1
Natural variantiVAR_077123110T → S in FFEVF2; unknown pathological significance. 1 Publication1
Natural variantiVAR_077124198P → H in FFEVF2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745518585Ensembl.1
Natural variantiVAR_077125214D → H in FFEVF2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149128231Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		10641

MalaCards human disease database

More...MalaCardsi		NPRL2
MIMi617116 phenotype

Open Targets

More...OpenTargetsi		ENSG00000114388

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		98820 Familial focal epilepsy with variable foci

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA165697981

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WTW4 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NPRL2

Domain mapping of disease mutations (DMDM)

More...DMDMi		47117604

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002133191 – 380GATOR complex protein NPRL2Add BLAST380

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8WTW4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WTW4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WTW4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8WTW4

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8WTW4

PeptideAtlas

More...PeptideAtlasi		Q8WTW4

PRoteomics IDEntifications database

More...PRIDEi		Q8WTW4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		74610 [Q8WTW4-1]
74611 [Q8WTW4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WTW4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8WTW4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Most abundant in skeletal muscle, followed by brain, liver and pancreas, with lower amounts in lung, kidney, placenta and heart. Expressed in the frontal lobe cortex as well as in the temporal, parietal, and occipital lobes (PubMed:27173016, PubMed:26505888). Expressed in most lung cancer cell lines tested.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000114388 Expressed in cerebellar hemisphere and 111 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WTW4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WTW4 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000114388 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115885, 80 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8WTW4

Database of interacting proteins

More...DIPi		DIP-50746N

Protein interaction database and analysis system

More...IntActi		Q8WTW4, 15 interactors

Molecular INTeraction database

More...MINTi		Q8WTW4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000232501

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WTW4 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8WTW4

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 133Interaction with PDPK11 PublicationAdd BLAST133

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NPR2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3789 Eukaryota
ENOG410XP7B LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000001414

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_014995_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WTW4

KEGG Orthology (KO)

More...KOi		K20405

Identification of Orthologs from Complete Genome Data

More...OMAi		YASMTHG

Database of Orthologous Groups

More...OrthoDBi		500740at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WTW4

TreeFam database of animal gene trees

More...TreeFami		TF106159

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009348 NPR2

The PANTHER Classification System

More...PANTHERi		PTHR12991 PTHR12991, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06218 NPR2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WTW4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:380
Mass (Da):43,658
Last modified:May 10, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5ECA201CE073F964
GO
Isoform 2 (identifier: Q8WTW4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-120: Missing.
     312-323: KLIQFGLMKNLI → SEENLLGHLGVT
     324-380: Missing.

Show »
Length:203
Mass (Da):23,150
Checksum:i221068DD133A9BA1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F2Z3D4F2Z3D4_HUMAN
GATOR complex protein NPRL2
NPRL2
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F2Z2R8F2Z2R8_HUMAN
GATOR complex protein NPRL2
NPRL2
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJY0A0A590UJY0_HUMAN
GATOR complex protein NPRL2
NPRL2
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti17P → L in AAH21984 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077122105L → P in FFEVF2. 1 PublicationCorresponds to variant dbSNP:rs886037965EnsemblClinVar.1
Natural variantiVAR_077123110T → S in FFEVF2; unknown pathological significance. 1 Publication1
Natural variantiVAR_077124198P → H in FFEVF2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745518585Ensembl.1
Natural variantiVAR_077125214D → H in FFEVF2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149128231Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0103291 – 120Missing in isoform 2. 2 PublicationsAdd BLAST120
Alternative sequenceiVSP_010330312 – 323KLIQF…MKNLI → SEENLLGHLGVT in isoform 2. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_010331324 – 380Missing in isoform 2. 2 PublicationsAdd BLAST57

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2826.1 [Q8WTW4-1]

NCBI Reference Sequences

More...RefSeqi		NP_006536.3, NM_006545.4 [Q8WTW4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000232501; ENSP00000232501; ENSG00000114388 [Q8WTW4-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10641

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10641

UCSC genome browser

More...UCSCi		uc003daj.2 human [Q8WTW4-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS2826.1 [Q8WTW4-1]
RefSeqiNP_006536.3, NM_006545.4 [Q8WTW4-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CESelectron microscopy4.00N1-380[»]
6CETelectron microscopy4.40N1-380[»]
SMRiQ8WTW4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115885, 80 interactors
CORUMiQ8WTW4
DIPiDIP-50746N
IntActiQ8WTW4, 15 interactors
MINTiQ8WTW4
STRINGi9606.ENSP00000232501

PTM databases

iPTMnetiQ8WTW4
PhosphoSitePlusiQ8WTW4

Polymorphism and mutation databases

BioMutaiNPRL2
DMDMi47117604

Proteomic databases

EPDiQ8WTW4
jPOSTiQ8WTW4
MassIVEiQ8WTW4
MaxQBiQ8WTW4
PaxDbiQ8WTW4
PeptideAtlasiQ8WTW4
PRIDEiQ8WTW4
ProteomicsDBi74610 [Q8WTW4-1]
74611 [Q8WTW4-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30939 272 antibodies

The DNASU plasmid repository

More...DNASUi		10641

Genome annotation databases

EnsembliENST00000232501; ENSP00000232501; ENSG00000114388 [Q8WTW4-1]
GeneIDi10641
KEGGihsa:10641
UCSCiuc003daj.2 human [Q8WTW4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10641
DisGeNETi10641
EuPathDBiHostDB:ENSG00000114388.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		NPRL2
HGNCiHGNC:24969 NPRL2
HPAiENSG00000114388 Low tissue specificity
MalaCardsiNPRL2
MIMi607072 gene
617116 phenotype
neXtProtiNX_Q8WTW4
OpenTargetsiENSG00000114388
Orphaneti98820 Familial focal epilepsy with variable foci
PharmGKBiPA165697981

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3789 Eukaryota
ENOG410XP7B LUCA
GeneTreeiENSGT00390000001414
HOGENOMiCLU_014995_0_0_1
InParanoidiQ8WTW4
KOiK20405
OMAiYASMTHG
OrthoDBi500740at2759
PhylomeDBiQ8WTW4
TreeFamiTF106159

Enzyme and pathway databases

ReactomeiR-HSA-9639288 Amino acids regulate mTORC1
SIGNORiQ8WTW4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10641 11 hits in 786 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NPRL2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TUSC4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		10641
PharosiQ8WTW4 Tbio

Protein Ontology

More...PROi		PR:Q8WTW4
RNActiQ8WTW4 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000114388 Expressed in cerebellar hemisphere and 111 other tissues
ExpressionAtlasiQ8WTW4 baseline and differential
GenevisibleiQ8WTW4 HS

Family and domain databases

InterProiView protein in InterPro
IPR009348 NPR2
PANTHERiPTHR12991 PTHR12991, 2 hits
PfamiView protein in Pfam
PF06218 NPR2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNPRL2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WTW4
Secondary accession number(s): A8K831
, Q6FGS2, Q9Y249, Q9Y497
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: May 10, 2004
Last modified: June 17, 2020
This is version 146 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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