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Protein

GATOR complex protein NPRL3

Gene

NPRL3

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

Caution

Ser-489 is missing in the human genome assembly but is present in all available mRNAs and ESTs.Curated

<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

GO - Biological processi

<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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q12980

<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_and_taxonomy_section">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 NPRL3Curated
Alternative name(s):
-14 gene protein1 Publication
Alpha-globin regulatory element-containing gene protein1 Publication
Nitrogen permease regulator 3-like proteinImported
Protein CGTHBA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:NPRL3Imported
Synonyms:C16orf35Imported, CGTHBA, MARE1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000103148.15

Human Gene Nomenclature Database

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HGNCi
HGNC:14124 NPRL3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600928 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q12980

<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; 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 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 3 (FFEVF3)3 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.
See also OMIM:617118
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_07712692R → Q in FFEVF3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs367729589EnsemblClinVar.1
Natural variantiVAR_077127249E → K in FFEVF3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs200041907Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
8131

MalaCards human disease database

More...
MalaCardsi
NPRL3
MIMi617118 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000103148

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

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Orphaneti
98820 Familial focal epilepsy with variable foci

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25550

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NPRL3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
18202492

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002206381 – 569GATOR complex protein NPRL3Add BLAST569

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei476PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q12980

MaxQB - The MaxQuant DataBase

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MaxQBi
Q12980

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

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PaxDbi
Q12980

PeptideAtlas

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PeptideAtlasi
Q12980

PRoteomics IDEntifications database

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PRIDEi
Q12980

ProteomicsDB human proteome resource

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ProteomicsDBi
59074

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q12980

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

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PhosphoSitePlusi
Q12980

<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

Widely expressed. Expressed in the frontal lobe cortex as well as in the temporal, parietal, and occipital lobes (PubMed:27173016, PubMed:26505888).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000103148 Expressed in 215 organ(s), highest expression level in blood

CleanEx database of gene expression profiles

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CleanExi
HS_C16orf35

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q12980 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12980 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA011741

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a heterodimer with NPRL2. 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.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<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)

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BioGridi
113796, 22 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q12980

Database of interacting proteins

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DIPi
DIP-62051N

Protein interaction database and analysis system

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IntActi
Q12980, 9 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000382834

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q12980

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

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SMRi
Q12980

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

<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 NPR3 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3830 Eukaryota
ENOG410XP4E LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000015916

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000004787

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG019399

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12980

KEGG Orthology (KO)

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KOi
K20406

Identification of Orthologs from Complete Genome Data

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OMAi
CLPQKVH

Database of Orthologous Groups

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OrthoDBi
EOG091G03SH

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q12980

TreeFam database of animal gene trees

More...
TreeFami
TF105965

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR005365 NPR3

The PANTHER Classification System

More...
PANTHERi
PTHR13153 PTHR13153, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03666 NPR3, 2 hits

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All

Q12980-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTS KPRSRYAASN
60 70 80 90 100
TGDHADEQDG DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL
110 120 130 140 150
QHALGQISKT DPSPKREAPT MILFNVVFAL RANADPSVIN CLHNLSRRIA
160 170 180 190 200
TVLQHEERRC QYLTREAKLI LALQDEVSAM ADGNEGPQSP FHHILPKCKL
210 220 230 240 250
ARDLKEAYDS LCTSGVVRLH INSWLEVSFC LPHKIHYAAS SLIPPEAIER
260 270 280 290 300
SLKAIRPYHA LLLLSDEKSL LGELPIDCSP ALVRVIKTTS AVKNLQQLAQ
310 320 330 340 350
DADLALLQVF QLAAHLVYWG KAIIIYPLCE NNVYMLSPNA SVCLYSPLAE
360 370 380 390 400
QFSHQFPSHD LPSVLAKFSL PVSLSEFRNP LAPAVQETQL IQMVVWMLQR
410 420 430 440 450
RLLIQLHTYV CLMASPSEEE PRPREDDVPF TARVGGRSLS TPNALSFGSP
460 470 480 490 500
TSSDDMTLTS PSMDNSSAEL LPSGDSPLNQ RMTENLLASL SEHERAAILS
510 520 530 540 550
VPAAQNPEDL RMFARLLHYF RGRHHLEEIM YNENTRRSQL LMLFDKFRSV
560
LVVTTHEDPV IAVFQALLP
Length:569
Mass (Da):63,605
Last modified:November 1, 1996 - v1
<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:i44BEF42AA7F2841D
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1B1F5B1B1F5_HUMAN
Chromosome 16 open reading frame 35
NPRL3 C16orf35, Z69666.1-011
182Annotation 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>
B7Z6Q0B7Z6Q0_HUMAN
GATOR complex protein NPRL3
NPRL3
544Annotation 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>
F8WDA5F8WDA5_HUMAN
GATOR complex protein NPRL3
NPRL3
69Annotation 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>
A0A087WTD0A0A087WTD0_HUMAN
GATOR complex protein NPRL3
NPRL3
201Annotation 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>
F8WEK7F8WEK7_HUMAN
GATOR complex protein NPRL3
NPRL3
86Annotation 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>
F8WCB2F8WCB2_HUMAN
GATOR complex protein NPRL3
NPRL3
62Annotation 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>
A0A087WTE2A0A087WTE2_HUMAN
GATOR complex protein NPRL3
NPRL3
69Annotation 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>
A0A087WTP7A0A087WTP7_HUMAN
GATOR complex protein NPRL3
NPRL3
77Annotation 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>
F8WBJ1F8WBJ1_HUMAN
GATOR complex protein NPRL3
NPRL3
58Annotation 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 conflicti489Missing in CAI94885 (PubMed:16728641).Curated1
Sequence conflicti489Missing in CAI95611 (PubMed:16728641).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07712692R → Q in FFEVF3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs367729589EnsemblClinVar.1
Natural variantiVAR_077127249E → K in FFEVF3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs200041907Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X90857 mRNA Translation: CAA62368.1
DQ431198 Genomic DNA Translation: ABD95907.1
Z69666, Z69720, Z84722 Genomic DNA Translation: CAI94885.1
Z69720, Z69666, Z84722 Genomic DNA Translation: CAI95611.1
CH471112 Genomic DNA Translation: EAW85865.1
CH471112 Genomic DNA Translation: EAW85867.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS73795.1

NCBI Reference Sequences

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RefSeqi
NP_001070818.1, NM_001077350.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.19699

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000611875; ENSP00000478273; ENSG00000103148
ENST00000620134; ENSP00000483814; ENSG00000103148

Database of genes from NCBI RefSeq genomes

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GeneIDi
8131

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8131

UCSC genome browser

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UCSCi
uc032dmr.2 human

<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
X90857 mRNA Translation: CAA62368.1
DQ431198 Genomic DNA Translation: ABD95907.1
Z69666, Z69720, Z84722 Genomic DNA Translation: CAI94885.1
Z69720, Z69666, Z84722 Genomic DNA Translation: CAI95611.1
CH471112 Genomic DNA Translation: EAW85865.1
CH471112 Genomic DNA Translation: EAW85867.1
CCDSiCCDS73795.1
RefSeqiNP_001070818.1, NM_001077350.2
UniGeneiHs.19699

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CESelectron microscopy4.00M1-569[»]
6CETelectron microscopy4.40M1-569[»]
ProteinModelPortaliQ12980
SMRiQ12980
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113796, 22 interactors
CORUMiQ12980
DIPiDIP-62051N
IntActiQ12980, 9 interactors
STRINGi9606.ENSP00000382834

PTM databases

iPTMnetiQ12980
PhosphoSitePlusiQ12980

Polymorphism and mutation databases

BioMutaiNPRL3
DMDMi18202492

Proteomic databases

EPDiQ12980
MaxQBiQ12980
PaxDbiQ12980
PeptideAtlasiQ12980
PRIDEiQ12980
ProteomicsDBi59074

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
8131
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000611875; ENSP00000478273; ENSG00000103148
ENST00000620134; ENSP00000483814; ENSG00000103148
GeneIDi8131
KEGGihsa:8131
UCSCiuc032dmr.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8131
DisGeNETi8131
EuPathDBiHostDB:ENSG00000103148.15

GeneCards: human genes, protein and diseases

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GeneCardsi
NPRL3
HGNCiHGNC:14124 NPRL3
HPAiHPA011741
MalaCardsiNPRL3
MIMi600928 gene
617118 phenotype
neXtProtiNX_Q12980
OpenTargetsiENSG00000103148
Orphaneti98820 Familial focal epilepsy with variable foci
PharmGKBiPA25550

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3830 Eukaryota
ENOG410XP4E LUCA
GeneTreeiENSGT00390000015916
HOGENOMiHOG000004787
HOVERGENiHBG019399
InParanoidiQ12980
KOiK20406
OMAiCLPQKVH
OrthoDBiEOG091G03SH
PhylomeDBiQ12980
TreeFamiTF105965

Enzyme and pathway databases

SIGNORiQ12980

Miscellaneous databases

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

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ChiTaRSi
NPRL3 human

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

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GenomeRNAii
8131

Protein Ontology

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PROi
PR:Q12980

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000103148 Expressed in 215 organ(s), highest expression level in blood
CleanExiHS_C16orf35
ExpressionAtlasiQ12980 baseline and differential
GenevisibleiQ12980 HS

Family and domain databases

InterProiView protein in InterPro
IPR005365 NPR3
PANTHERiPTHR13153 PTHR13153, 1 hit
PfamiView protein in Pfam
PF03666 NPR3, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiNPRL3_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: Q12980
Secondary accession number(s): D3DU40
, Q1W6H0, Q4TT56, Q92469
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 126 of the entry and version 1 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, Complete proteome, 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 chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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