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NHLRC1 Gene

protein-coding   GIFtS: 55
GCID: GC06M018065

NHL Repeat Containing E3 Ubiquitin Protein Ligase 1

(Previous name: NHL repeat containing 1)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NHL Repeat Containing E3 Ubiquitin Protein Ligase 11 2     Progressive Myoclonus Type 2B1
EPM2B2 3 5     MALIN2
NHL Repeat Containing 11 2     bA204B7.22
NHL Repeat-Containing Protein 12 3     E3 Ubiquitin-Protein Ligase NHLRC12
EPM2A2 5     EC 6.3.2.-3
epilepsy1     Malin3

External Ids:    HGNC: 215761   Entrez Gene: 3788842   Ensembl: ENSG000001875667   OMIM: 6080725   UniProtKB: Q6VVB13   

Export aliases for NHLRC1 gene to outside databases

Previous GC identifers: GC00U913226 GC06U900282 GC06M018228 GC06M018120


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NHLRC1 Gene:
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the
encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease,
also known as progressive myoclonic epilepsy type 2 (EPM2).(provided by RefSeq, Mar 2010)

GeneCards Summary for NHLRC1 Gene:
NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1) is a protein-coding gene. Diseases associated with NHLRC1 include neuroleptic malignant syndrome, and nhlrc1-related lafora disease. GO annotations related to this gene include ubiquitin-protein ligase activity.

UniProtKB/Swiss-Prot: NHLC1_HUMAN, Q6VVB1
Function: E3 ubiquitin-protein ligase which 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 PPP1R3C/PTG in a laforin-dependent manner, and targets it for proteasome-dependent degradation and
this degradation decreases glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and
targets them for proteasome-dependent degradation

Gene Wiki entry for NHLRC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the NHLRC1 gene promoter:
         Max1   Elk-1   AML1a   p53   Bach2   YY1   HEN1   HOXA5   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNHLRC1 promoter sequence
   Search Chromatin IP Primers for NHLRC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NHLRC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.3   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22.3

NHLRC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NHLRC1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M018065:  view genomic region     (about GC identifiers)

Start:
18,120,718 bp from pter      End:
18,122,851 bp from pter
Size:
2,134 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NHLC1_HUMAN, Q6VVB1 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase NHLRC1  
Size: 395 amino acids; 42293 Da
Subunit: Interacts with AGL. Interacts (via the NHL repeats) with EPM2A/laforin. Forms a complex with
EPM2A/laforin and HSP70
Secondary accessions: Q3SYB1 Q5VUK7 Q6IMH1

Explore the universe of human proteins at neXtProt for NHLRC1: NX_Q6VVB1

Explore proteomics data for NHLRC1 at MOPED


See NHLRC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_940988.2  
ENSEMBL proteins: 
 ENSP00000345464  
Reactome Protein details: Q6VVB1

NHLRC1 Human Recombinant Protein Products:

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LSBio Antibodies in human, mouse, rat for NHLRC1

NHLRC1 Assay Products:

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Cloud-Clone Corp. CLIAs for NHLRC1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5 InterPro protein domains:
 IPR001841 Znf_RING
 IPR013083 Znf_RING/FYVE/PHD
 IPR017907 Znf_RING_CS
 IPR011042 6-blade_b-propeller_TolB-like
 IPR013017 NHL_repeat_subgr

Graphical View of Domain Structure for InterPro Entry Q6VVB1

ProtoNet protein and cluster: Q6VVB1

1 Blocks protein domain: IPB001841 Zn-finger

UniProtKB/Swiss-Prot: NHLC1_HUMAN, Q6VVB1
Domain: The RING domain is essential for ubiquitin E3 ligase activity
Similarity: Contains 6 NHL repeats
Similarity: Contains 1 RING-type zinc finger


NHLRC1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: NHLC1_HUMAN, Q6VVB1
Function: E3 ubiquitin-protein ligase which 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 PPP1R3C/PTG in a laforin-dependent manner, and targets it for proteasome-dependent degradation and
this degradation decreases glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and
targets them for proteasome-dependent degradation

     Enzyme Number (IUBMB): EC 6.3.2.-1

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004842ubiquitin-protein ligase activity IDA15930137
GO:0005515protein binding IPI15930137
GO:0008270zinc ion binding IEA--
     
NHLRC1 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for NHLRC1:
 Decreased POU5F1-GFP protein e 

     9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Nhlrc1):
 behavior/neurological  cellular  homeostasis/metabolism  liver/biliary system  muscle 
 nervous system  no phenotypic analysis  other  pigmentation 

NHLRC1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for NHLRC1: Nhlrc1tm1.2Geno Nhlrc1tm1(KOMP)Vlcg Nhlrc1tm1Bmin

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NHLRC1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NHLRC1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NHLRC1
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NHLRC1

miRNA
Products:
    
miRTarBase miRNAs that target NHLRC1:
hsa-mir-21-5p (MIRT030853), hsa-mir-192-5p (MIRT026512), hsa-mir-215-5p (MIRT024904)

Block miRNA regulation of human, mouse, rat NHLRC1 using miScript Target Protectors
7 qRT-PCR Assays for microRNAs that regulate NHLRC1:
hsa-miR-379 hsa-miR-330-5p hsa-miR-4328 hsa-miR-326 hsa-miR-513a-3p hsa-miR-522 hsa-miR-224*
SwitchGear 3'UTR luciferase reporter plasmidNHLRC1 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for NHLRC1
Predesigned siRNA for gene silencing in human, mouse, rat NHLRC1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for NHLRC1

Clone
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OriGene ORF clones in mouse, rat for NHLRC1
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GenScript: all cDNA clones in your preferred vector: NHLRC1 (NM_198586)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NHLRC1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NHLRC1

Cell Line
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GenScript Custom overexpressing Cell Line Services for NHLRC1
Browse ESI BIO Cell Lines and PureStem Progenitors for NHLRC1 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHLRC1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
NHLC1_HUMAN, Q6VVB1: Endoplasmic reticulum. Nucleus. Note=Localizes at the endoplasmic reticulum and, to a lesser
extent, in the nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
nucleus5
cytosol1
mitochondrion1
peroxisome1

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA17908927
GO:0005783endoplasmic reticulum IEA--
GO:0005829cytosol TAS--
GO:0048471perinuclear region of cytoplasm IEA--

NHLRC1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for NHLRC1 About                                                                                                See pathways by source

SuperPathContained pathways About
1Glucose metabolism
Glucose metabolism0.44
Glycogen synthesis0.00
2MPS VI - Maroteaux-Lamy syndrome
Metabolism of carbohydrates0.45
3Metabolism
Metabolism0.38
4Class I MHC mediated antigen processing and presentation
Ubiquitin mediated proteolysis0.35

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Reactome Pathway for NHLRC1
    Glycogen synthesis


1 Kegg Pathway  (Kegg details for NHLRC1):
    Ubiquitin mediated proteolysis

UniProtKB/Swiss-Prot: NHLC1_HUMAN, Q6VVB1
Pathway: Protein modification; protein ubiquitination


NHLRC1 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Array including NHLRC1: 

          Ubiquitin Ligases in human mouse rat

Interactions:

    GeneGlobe Interaction Network for NHLRC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for NHLRC1 (Q6VVB11, 2, 3 ENSP000003454644) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
InteractantInteraction Details
GeneCardExternal ID(s)
Epm2aQ9WUA51, 2EBI-6426628,EBI-1040928 MINT-8374273 MINT-8374157 MINT-8374288 MINT-8374258 MINT-8374101 MINT-8374118 MINT-8374170 MINT-8374198 MINT-8374243 MINT-8374228 MINT-8374326 MINT-8374185
EPM2AO952783, ENSP000003564894I2D: score=1 STRING: ENSP00000356489
HSPA5P110213, ENSP000003241734I2D: score=1 STRING: ENSP00000324173
TUBG2Q9NRH33, ENSP000002514124I2D: score=1 STRING: ENSP00000251412
UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
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Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000209protein polyubiquitination IDA15930137
GO:0005975carbohydrate metabolic process TAS--
GO:0005978glycogen biosynthetic process TAS--
GO:0006006glucose metabolic process TAS--
GO:0031398positive regulation of protein ubiquitination IEA--

NHLRC1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for NHLRC1 (NHLC1)

1 Novoseek inferred chemical compound relationship for NHLRC1 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen 56 17 18070875 (4), 19529779 (2), 18033035 (1)



NHLRC1 for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for NHLRC1 gene: 
NM_198586.2  

Unigene Cluster for NHLRC1:

NHL repeat containing 1
Hs.348351  [show with all ESTs]
Unigene Representative Sequence: NM_198586
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000340650(uc003ncl.1)

miRNA
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Block miRNA regulation of human, mouse, rat NHLRC1 using miScript Target Protectors
7 qRT-PCR Assays for microRNAs that regulate NHLRC1:
hsa-miR-379 hsa-miR-330-5p hsa-miR-4328 hsa-miR-326 hsa-miR-513a-3p hsa-miR-522 hsa-miR-224*
SwitchGear 3'UTR luciferase reporter plasmidNHLRC1 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for NHLRC1
Predesigned siRNA for gene silencing in human, mouse, rat NHLRC1
Clone
Products:
     
OriGene clones in human, mouse for NHLRC1 (see all 6)
OriGene ORF clones in mouse, rat for NHLRC1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: NHLRC1 (NM_198586)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NHLRC1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NHLRC1
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for NHLRC1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NHLRC1
  QuantiTect SYBR Green Assays in human, mouse, rat NHLRC1
  QuantiFast Probe-based Assays in human, mouse, rat NHLRC1

Additional mRNA sequence: 

AY324850.1 BC103888.1 BC103889.1 BC103890.1 

1 DOTS entry:

DT.99936660 

13 AceView cDNA sequences:

BK001510 AI275075 NM_198586 AY324850 CA450023 BU075743 BI711470 AA334003 
AA868570 BI711752 T78798 BU075919 T78415 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NHLRC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GTCTTTCGCA
NHLRC1 Expression
About this image

NHLRC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NHLRC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.348351

UniProtKB/Swiss-Prot: NHLC1_HUMAN, Q6VVB1
Tissue specificity: Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and
pancreas

    Pathway & Disease-focused RT2 Profiler PCR Array including NHLRC1: 
          Ubiquitin Ligases in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for NHLRC1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NHLRC1
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QuantiFast Probe-based Assays in human, mouse, rat NHLRC1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHLRC1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for NHLRC1 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nhlrc11 , 5 NHL repeat containing 11, 5 82.37(n)1
83.77(a)1
  13 (24.50 cM)5
1051931  NM_175340.41  NP_780549.11 
 470125585 
chicken
(Gallus gallus)
Aves NHLRC11 NHL repeat containing 1 62.35(n)
53.63(a)
  428477  XM_426034.3  XP_426034.2 
lizard
(Anolis carolinensis)
Reptilia NHLRC16
NHL repeat containing E3 ubiquitin protein ligase ...
55(a)
1 ↔ 1
4(56947532-56948737)
tropical clawed frog
(Xenopus tropicalis)
Amphibia nhlrc11 NHL repeat containing 1 52.65(n)
46.41(a)
  100492212  XM_002932689.2  XP_002932735.1 


ENSEMBL Gene Tree for NHLRC1 (if available)
TreeFam Gene Tree for NHLRC1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for NHLRC1 (see all 179)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2005952731,2,,4
CEpilepsy, progressive myoclonic 2 (EPM2)4 --18045814(+) CGCGCA/GTCCTC 2 R C mis10--------
rs289405761,2,,4
CEpilepsy, progressive myoclonic 2 (EPM2)4 pathogenic118046087(-) AGTGCC/GCATTC 2 P A mis10--------
rs289405751,2,,4
CEpilepsy, progressive myoclonic 2 (EPM2)4 pathogenic118046216(-) TCGAGA/TGCAAG 2 S C mis10--------
VAR_0463964
Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0463962 D N mis40--------
VAR_0463874
Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0463872 S R mis40--------
VAR_0464014
Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0464012 D A mis40--------
VAR_0463894
Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0463892 C Y mis40--------
VAR_0463974
Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0463972 R K mis40--------
VAR_0463904
Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0463902 L P mis40--------
VAR_0194884
Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0194882 Q P mis40--------

HapMap Linkage Disequilibrium report for NHLRC1 (18120718 - 18122851 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for NHLRC1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv830597CNV Loss17160897
nsv883460CNV Gain21882294

Human Gene Mutation Database (HGMD): NHLRC1
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NHLRC1
DNA2.0 Custom Variant and Variant Library Synthesis for NHLRC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608072   
OMIM disorders: 254780  
UniProtKB/Swiss-Prot: NHLC1_HUMAN, Q6VVB1
  • Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]: An 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for NHLRC1 (see all 23):    About MalaCards
    neuroleptic malignant syndrome    nhlrc1-related lafora disease    tako-tsubo cardiomyopathy    progressive myoclonus epilepsy, lafora type
    myoclonus epilepsy    progressive myoclonus epilepsy    lafora disease    epilepsy, progressive myoclonic 2b
    myoclonus    early-onset lafora body disease    status epilepticus    congenital generalized lipodystrophy
    cerebellar ataxia    dementia    brain disease    lipodystrophy
    blindness    ataxia    neuropathy    multiple myeloma

    3 diseases from the University of Copenhagen DISEASES database for NHLRC1:
    Progressive myoclonus epilepsy     Neurodegenerative disease     Neuroleptic malignant syndrome

    NHLRC1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for NHLRC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lafora disease 98.3 124 15781812 (8), 18311786 (7), 16950819 (6), 16021330 (5) (see all 29)
    progressive myoclonus epilepsies 96 18 18617530 (2), 15930137 (1), 19529779 (1), 16134145 (1) (see all 10)
    neurodegenerative diseases 50.4 3 15930137 (1), 19529779 (1)
    neuroleptic malignant syndrome 48.5 2 8904246 (1), 1970519 (1)
    epilepsy 39.6 6 15637270 (1), 12958597 (1), 16115820 (1)
    dementia 25.8 1 16115820 (1)

    GeneTests: NHLRC1
    GeneReviews: NHLRC1
    Genetic Association Database (GAD): NHLRC1
    Human Genome Epidemiology (HuGE) Navigator: NHLRC1 (1 document)

    Export disorders for NHLRC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NHLRC1 gene, integrated from 10 sources (see all 70):
    (articles sorted by number of sources associating them with NHLRC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in NHLRC1 cause progressive myoclonus epilepsy. (PubMed id 12958597)1, 2, 3, 9 Chan E.M.... Scherer S.W. (Nat. Genet. 2003)
    2. Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. (PubMed id 18311786)1, 2, 9 Singh S.... Ganesh S. (Hum. Mutat. 2008)
    3. Lafora disease due to EPM2B mutations: a clinical and genetic study. (PubMed id 15781812)1, 2, 9 Gomez-Abad C....Serratosa J.M. (Neurology 2005)
    4. Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. (PubMed id 19267391)1, 4, 9 Singh S. and Ganesh S. (Hum. Mutat. 2009)
    5. Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. (PubMed id 15930137)1, 2, 9 Gentry M.S.... Dixon J.E. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    6. Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG). (PubMed id 18070875)1, 2, 9 Worby C.A.... Dixon J.E. (J. Biol. Chem. 2008)
    7. The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system. (PubMed id 19036738)1, 2, 9 Garyali P.... Ganesh S. (Hum. Mol. Genet. 2009)
    8. A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. (PubMed id 17908927)1, 2 Cheng A.... Saltiel A.R. (Genes Dev. 2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 378884 HGNC: 21576 AceView: NHLRC1 Ensembl:ENSG00000187566 euGenes: HUgn378884
    ECgene: NHLRC1 Kegg: 378884 H-InvDB: NHLRC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NHLRC1 Pharmacogenomics, SNPs, Pathways
    The Lafora progressive myoclonus epilepsy mutation and polymorphism databasehttp://projects.tcag.ca/lafora/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NHLRC1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NHLRC1 gene:
    Search GeneIP for patents involving NHLRC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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