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Entry version 143 (08 May 2019)
Sequence version 2 (19 Jul 2004)
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Protein

E3 ubiquitin-protein ligase NHLRC1

Gene

NHLRC1

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

E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway.6 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine. EC:2.3.2.27

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri26 – 72RING-typePROSITE-ProRule annotationAdd BLAST47

<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 functionTransferase
Biological processAutophagy, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

<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:
E3 ubiquitin-protein ligase NHLRC1 (EC:2.3.2.27)
Alternative name(s):
Malin
NHL repeat-containing protein 1
RING-type E3 ubiquitin transferase NHLRC1Curated
<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:NHLRC1
Synonyms:EPM2B
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21576 NHLRC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608072 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6VVB1

<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

Endoplasmic reticulum, Nucleus

<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

Epilepsy, progressive myoclonic 2 (EPM2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum.
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_04638722S → R in EPM2; does not significantly alters the subcellular location as compared to the wild-type. 1 Publication1
Natural variantiVAR_01948226C → S in EPM2. 1 PublicationCorresponds to variant dbSNP:rs28940575EnsemblClinVar.1
Natural variantiVAR_01948333F → S in EPM2. 1 PublicationCorresponds to variant dbSNP:rs757759398Ensembl.1
Natural variantiVAR_07079346C → Y in EPM2; compound heterozygote with A-69; loss of interaction with EPM2A; increased levels of PPP1R3C and glycogen. 1 PublicationCorresponds to variant dbSNP:rs1193718748Ensembl.1
Natural variantiVAR_04638867E → Q in EPM2. 1 PublicationCorresponds to variant dbSNP:rs779507031Ensembl.1
Natural variantiVAR_04638968C → Y in EPM2. 1 Publication1
Natural variantiVAR_01948469P → A in EPM2; compound heterozygote with Y-46; severely reduced interaction with EPM2A; increased levels of PPP1R3C and glycogen. 2 PublicationsCorresponds to variant dbSNP:rs28940576EnsemblClinVar.1
Natural variantiVAR_01948587L → P in EPM2. 1 Publication1
Natural variantiVAR_046390126L → P in EPM2; the mutant protein targeted exclusively nucleus as compared to predominantly cytoplasmic and partially nuclear localization of the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs950907157Ensembl.1
Natural variantiVAR_019487146D → N in EPM2; compound heterozygote with P-261; severely reduced interaction with EPM2A; increased levels of PPP1R3C and glycogen. 2 PublicationsCorresponds to variant dbSNP:rs769301934EnsemblClinVar.1
Natural variantiVAR_046391153I → M in EPM2. 1 Publication1
Natural variantiVAR_046392160C → R in EPM2. 1 PublicationCorresponds to variant dbSNP:rs200595273EnsemblClinVar.1
Natural variantiVAR_046393198I → N in EPM2. 1 PublicationCorresponds to variant dbSNP:rs121917876EnsemblClinVar.1
Natural variantiVAR_046394219W → R in EPM2. 1 Publication1
Natural variantiVAR_046395233D → A in EPM2. 1 Publication1
Natural variantiVAR_046396245D → N in EPM2. 1 Publication1
Natural variantiVAR_046397253R → K in EPM2. 1 Publication1
Natural variantiVAR_070794261L → P in EPM2; compound heterozygote with N-146; loss of interaction with EPM2A; increased levels of PPP1R3C and glycogen. 1 PublicationCorresponds to variant dbSNP:rs879745047Ensembl.1
Natural variantiVAR_046398264P → H in EPM2. 1 Publication1
Natural variantiVAR_046399279L → P in EPM2; significantly alters the distribution of the protein; a great majority of cells expressing the mutant form formed perinuclear inclusion when compared with the wild-type form. 1 Publication1
Natural variantiVAR_046400294 – 295Missing in EPM2. 1 Publication2
Natural variantiVAR_019488302Q → P in EPM2; loss of interaction with EPM2A. 2 PublicationsCorresponds to variant dbSNP:rs757858146Ensembl.1
Natural variantiVAR_046401308D → A in EPM2. 1 PublicationCorresponds to variant dbSNP:rs137852859EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi280E → K: Loss of interaction with EP2MA. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
378884

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
NHLRC1

MalaCards human disease database

More...
MalaCardsi
NHLRC1
MIMi254780 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000187566

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

More...
Orphaneti
501 Lafora disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134916338

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NHLRC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
50400890

<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_00000559801 – 395E3 ubiquitin-protein ligase NHLRC1Add BLAST395

Proteomic databases

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

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PaxDbi
Q6VVB1

PeptideAtlas

More...
PeptideAtlasi
Q6VVB1

PRoteomics IDEntifications database

More...
PRIDEi
Q6VVB1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
67732

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6VVB1

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

More...
PhosphoSitePlusi
Q6VVB1

<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

Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000187566 Expressed in 89 organ(s), highest expression level in liver

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA066030

<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

Interacts with AGL.

Interacts (via the NHL repeats) with EPM2A/laforin.

Forms a complex with EPM2A/laforin and HSP70.

Interacts with PRDM8 (PubMed:22961547).

4 Publications

<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
132073, 16 interactors

Protein interaction database and analysis system

More...
IntActi
Q6VVB1, 13 interactors

Molecular INTeraction database

More...
MINTi
Q6VVB1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000345464

<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
Q6VVB1

Database of comparative protein structure models

More...
ModBasei
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati113 – 157NHL 1Add BLAST45
Repeati161 – 204NHL 2Add BLAST44
Repeati205 – 245NHL 3Add BLAST41
Repeati248 – 300NHL 4Add BLAST53
Repeati301 – 349NHL 5Add BLAST49
Repeati350 – 393NHL 6Add BLAST44

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The RING domain is essential for ubiquitin E3 ligase activity.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri26 – 72RING-typePROSITE-ProRule annotationAdd BLAST47

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410ITF2 Eukaryota
ENOG410ZMHC LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00730000111361

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113780

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6VVB1

KEGG Orthology (KO)

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KOi
K10602

Identification of Orthologs from Complete Genome Data

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OMAi
HAFGGWG

Database of Orthologous Groups

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OrthoDBi
711255at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6VVB1

TreeFam database of animal gene trees

More...
TreeFami
TF331018

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.120.10.30, 2 hits
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR013017 NHL_repeat_subgr
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14634 zf-RING_5, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00184 RING, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51125 NHL, 6 hits
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 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_length">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>Sequencei

<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.

Q6VVB1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAEASESGP ALHELMREAE ISLLECKVCF EKFGHRQQRR PRNLSCGHVV
60 70 80 90 100
CLACVAALAH PRTLALECPF CRRACRGCDT SDCLPVLHLI ELLGSALRQS
110 120 130 140 150
PAAHRAAPSA PGALTCHHTF GGWGTLVNPT GLALCPKTGR VVVVHDGRRR
160 170 180 190 200
VKIFDSGGGC AHQFGEKGDA AQDIRYPVDV TITNDCHVVV TDAGDRSIKV
210 220 230 240 250
FDFFGQIKLV IGGQFSLPWG VETTPQNGIV VTDAEAGSLH LLDVDFAEGV
260 270 280 290 300
LRRTERLQAH LCNPRGVAVS WLTGAIAVLE HPLALGTGVC STRVKVFSSS
310 320 330 340 350
MQLVGQVDTF GLSLYFPSKI TASAVTFDHQ GNVIVADTSG PAILCLGKPE
360 370 380 390
EFPVPKPMVT HGLSHPVALT FTKENSLLVL DTASHSIKVY KVDWG
Length:395
Mass (Da):42,293
Last modified:July 19, 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:i3E8339D00165FBED
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04638722S → R in EPM2; does not significantly alters the subcellular location as compared to the wild-type. 1 Publication1
Natural variantiVAR_01948226C → S in EPM2. 1 PublicationCorresponds to variant dbSNP:rs28940575EnsemblClinVar.1
Natural variantiVAR_01948333F → S in EPM2. 1 PublicationCorresponds to variant dbSNP:rs757759398Ensembl.1
Natural variantiVAR_07079346C → Y in EPM2; compound heterozygote with A-69; loss of interaction with EPM2A; increased levels of PPP1R3C and glycogen. 1 PublicationCorresponds to variant dbSNP:rs1193718748Ensembl.1
Natural variantiVAR_04638867E → Q in EPM2. 1 PublicationCorresponds to variant dbSNP:rs779507031Ensembl.1
Natural variantiVAR_04638968C → Y in EPM2. 1 Publication1
Natural variantiVAR_01948469P → A in EPM2; compound heterozygote with Y-46; severely reduced interaction with EPM2A; increased levels of PPP1R3C and glycogen. 2 PublicationsCorresponds to variant dbSNP:rs28940576EnsemblClinVar.1
Natural variantiVAR_01948587L → P in EPM2. 1 Publication1
Natural variantiVAR_019486111P → L Common polymorphism. 3 PublicationsCorresponds to variant dbSNP:rs10949483EnsemblClinVar.1
Natural variantiVAR_046390126L → P in EPM2; the mutant protein targeted exclusively nucleus as compared to predominantly cytoplasmic and partially nuclear localization of the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs950907157Ensembl.1
Natural variantiVAR_019487146D → N in EPM2; compound heterozygote with P-261; severely reduced interaction with EPM2A; increased levels of PPP1R3C and glycogen. 2 PublicationsCorresponds to variant dbSNP:rs769301934EnsemblClinVar.1
Natural variantiVAR_046391153I → M in EPM2. 1 Publication1
Natural variantiVAR_046392160C → R in EPM2. 1 PublicationCorresponds to variant dbSNP:rs200595273EnsemblClinVar.1
Natural variantiVAR_046393198I → N in EPM2. 1 PublicationCorresponds to variant dbSNP:rs121917876EnsemblClinVar.1
Natural variantiVAR_046394219W → R in EPM2. 1 Publication1
Natural variantiVAR_046395233D → A in EPM2. 1 Publication1
Natural variantiVAR_046396245D → N in EPM2. 1 Publication1
Natural variantiVAR_046397253R → K in EPM2. 1 Publication1
Natural variantiVAR_070794261L → P in EPM2; compound heterozygote with N-146; loss of interaction with EPM2A; increased levels of PPP1R3C and glycogen. 1 PublicationCorresponds to variant dbSNP:rs879745047Ensembl.1
Natural variantiVAR_046398264P → H in EPM2. 1 Publication1
Natural variantiVAR_046399279L → P in EPM2; significantly alters the distribution of the protein; a great majority of cells expressing the mutant form formed perinuclear inclusion when compared with the wild-type form. 1 Publication1
Natural variantiVAR_046400294 – 295Missing in EPM2. 1 Publication2
Natural variantiVAR_019488302Q → P in EPM2; loss of interaction with EPM2A. 2 PublicationsCorresponds to variant dbSNP:rs757858146Ensembl.1
Natural variantiVAR_046401308D → A in EPM2. 1 PublicationCorresponds to variant dbSNP:rs137852859EnsemblClinVar.1

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY324850 mRNA Translation: AAQ19671.1
AL589723 Genomic DNA No translation available.
BC103888 mRNA Translation: AAI03889.1
BC103889 mRNA Translation: AAI03890.1
BC103890 mRNA Translation: AAI03891.1
BK001510 mRNA Translation: DAA01954.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4542.1

NCBI Reference Sequences

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RefSeqi
NP_940988.2, NM_198586.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000340650; ENSP00000345464; ENSG00000187566

Database of genes from NCBI RefSeq genomes

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GeneIDi
378884

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:378884

UCSC genome browser

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UCSCi
uc003ncl.2 human

Keywords - Coding sequence diversityi

Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

The Lafora progressive myoclonus epilepsy mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY324850 mRNA Translation: AAQ19671.1
AL589723 Genomic DNA No translation available.
BC103888 mRNA Translation: AAI03889.1
BC103889 mRNA Translation: AAI03890.1
BC103890 mRNA Translation: AAI03891.1
BK001510 mRNA Translation: DAA01954.1
CCDSiCCDS4542.1
RefSeqiNP_940988.2, NM_198586.2

3D structure databases

SMRiQ6VVB1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi132073, 16 interactors
IntActiQ6VVB1, 13 interactors
MINTiQ6VVB1
STRINGi9606.ENSP00000345464

PTM databases

iPTMnetiQ6VVB1
PhosphoSitePlusiQ6VVB1

Polymorphism and mutation databases

BioMutaiNHLRC1
DMDMi50400890

Proteomic databases

PaxDbiQ6VVB1
PeptideAtlasiQ6VVB1
PRIDEiQ6VVB1
ProteomicsDBi67732

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340650; ENSP00000345464; ENSG00000187566
GeneIDi378884
KEGGihsa:378884
UCSCiuc003ncl.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
378884
DisGeNETi378884

GeneCards: human genes, protein and diseases

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GeneCardsi
NHLRC1
GeneReviewsiNHLRC1
HGNCiHGNC:21576 NHLRC1
HPAiHPA066030
MalaCardsiNHLRC1
MIMi254780 phenotype
608072 gene
neXtProtiNX_Q6VVB1
OpenTargetsiENSG00000187566
Orphaneti501 Lafora disease
PharmGKBiPA134916338

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410ITF2 Eukaryota
ENOG410ZMHC LUCA
GeneTreeiENSGT00730000111361
HOGENOMiHOG000113780
InParanoidiQ6VVB1
KOiK10602
OMAiHAFGGWG
OrthoDBi711255at2759
PhylomeDBiQ6VVB1
TreeFamiTF331018

Enzyme and pathway databases

UniPathwayiUPA00143
ReactomeiR-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NHLRC1

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

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GenomeRNAii
378884

Protein Ontology

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PROi
PR:Q6VVB1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000187566 Expressed in 89 organ(s), highest expression level in liver

Family and domain databases

Gene3Di2.120.10.30, 2 hits
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR013017 NHL_repeat_subgr
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PfamiView protein in Pfam
PF14634 zf-RING_5, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
PROSITEiView protein in PROSITE
PS51125 NHL, 6 hits
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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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 nameiNHLC1_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: Q6VVB1
Secondary accession number(s): Q3SYB1, Q5VUK7, Q6IMH1
<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: July 19, 2004
Last sequence update: July 19, 2004
Last modified: May 8, 2019
This is version 143 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

Complete proteome, Reference proteome

Documents

  1. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  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
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