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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NHLRC1 Gene

protein-coding   GIFtS: 55
GCID: GC06M018065

NHL Repeat Containing 1

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NHL Repeat Containing 11 2     MALIN2
EPM2B2 3 5     bA204B7.22
NHL Repeat-Containing Protein 12 3     E3 Ubiquitin-Protein Ligase NHLRC12
EPM2A2 5     EC 6.3.2.-3
epilepsy1     Malin3
Progressive Myoclonus Type 2B1     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 1) is a protein-coding gene. Diseases associated with NHLRC1 include neuroleptic malignant syndrome, and progressive myoclonus epilepsy, lafora type, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation. GO annotations related to this gene include ubiquitin-protein ligase activity and zinc ion binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NHLRC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Endoplasmic reticulum. Nucleus. Note=Localizes at the endoplasmic reticulum and, to a lesser
extent, in the nucleus
Secondary accessions: Q3SYB1 Q5VUK7 Q6IMH1

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

Explore proteomics data for NHLRC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6VVB1

  • NHLRC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NHLRC1 Protein Expression
    REFSEQ proteins: NP_940988.2  
    ENSEMBL proteins: 
     ENSP00000345464  

    Human Recombinant Protein Products for NHLRC1: 
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    Cloud-Clone Corp. Proteins for NHLRC1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    NHLRC1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for NHLRC1 
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    SwitchGear 3'UTR luciferase reporter plasmidNHLRC1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHLRC1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NHLRC1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NHLRC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/15 Interacting proteins for NHLRC1 (Q6VVB12, 3 ENSP000003454644) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPM2AO952783, ENSP000003564894I2D: score=1 STRING: ENSP00000356489
    HSPA5P110213, ENSP000003241734I2D: score=1 STRING: ENSP00000324173
    TUBG2Q9NRH33, ENSP000002514124I2D: score=1 STRING: ENSP00000251412
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    PPP1R3CQ9UQK13, ENSP000002389944I2D: score=1 STRING: ENSP00000238994
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA15930137
    GO:0031398positive regulation of protein ubiquitination IEA--
    GO:0043161proteasomal ubiquitin-dependent protein catabolic process IDA15930137

    NHLRC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NHLRC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about NHLRC1 / NHLC1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    7 QIAGEN miScript miRNA 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
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    Additional mRNA sequence: 

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

    1 DOTS entry:

    DT.99936660 

    13 AceView cDNA sequences:

    AY324850 BU075743 BI711470 NM_198586 BK001510 AI275075 CA450023 AA334003 
    BI711752 AA868570 BU075919 T78798 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See NHLRC1 Protein Expression from SPIRE MOPED and PaxDB
    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

        SABiosciences Expression via Pathway-Focused PCR Array including NHLRC1: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NHLRC1 gene from 4/10 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 82.76(n)1
    84.17(a)1
      13 (24.50 cM)5
    1051931  NM_175340.41  NP_780549.11 
     470125585 
    chicken
    (Gallus gallus)
    Aves NHLRC11 NHL repeat containing 1 62.09(n)
    53.63(a)
      428477  XM_426034.3  XP_426034.2 
    lizard
    (Anolis carolinensis)
    Reptilia NHLRC16
    Uncharacterized protein
    55(a)
    1 ↔ 1
    4(56947532-56948737)
    worm
    (Caenorhabditis elegans)
    Secernentea nhl-36
    Protein NHL-3, isoform a
    9(a)
    1 → many
    II(595204-602120)


    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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/177 SNPs in NHLRC1 are shown (see all 177)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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--------
    VAR_0463884
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0463882 E Q mis40--------
    VAR_0463954
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0463952 D A mis40--------
    VAR_0463984
    Epilepsy, progressive myoclonic 2 (EPM2)4--see VAR_0463982 P H 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
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    (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.)
    About This Section
    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

  • 19 diseases for NHLRC1:    About MalaCards
    neuroleptic malignant syndrome    progressive myoclonus epilepsy, lafora type    nhlrc1-related lafora disease    epilepsy, progressive myoclonic 2b
    lafora disease    myoclonus epilepsy    progressive myoclonus epilepsy    tako-tsubo cardiomyopathy
    early-onset lafora body disease    myoclonus    status epilepticus    cerebellar ataxia
    dementia    brain disease    blindness    ataxia
    neuropathy    hepatitis    neuronitis

    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)
    About This Section

    PubMed articles for NHLRC1 gene, integrated from 9 sources (see all 69):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/NHLRC1

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

    GeneCards and IP:
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