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

NHLRC1 Gene

protein-coding   GIFtS: 52
GCID: GC06M018065

NHL repeat containing 1

 Explore 17 diseases affiliated with
NHLRC1 via our new
 Human Malady Compendium 
Biological research products
for NHLRC1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
NHL Repeat Containing 11 2     Malin3
EPM2B1 2 3 5     MALIN2
BA204B7.21     E3 Ubiquitin-Protein Ligase NHLRC12
NHL Repeat-Containing Protein 12 3     EC 6.3.2.-3
EPM2A2 5     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NHLRC1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6VVB1

  • NHLRC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_940988.2  
    ENSEMBL proteins: 
     ENSP00000345464  

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    Uscn 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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NHLRC1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR011042 6-blade_b-propeller_TolB-like
     IPR013017 NHL_repeat_subgr
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q6VVB1

    ProtoNet protein and cluster: Q6VVB1

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

    Enzyme Number (IUBMB): EC 6.3.2.-1

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    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


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

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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36

    Pathway sources
    See GeneCards unified pathways
    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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA15930137
    GO:0016567protein ubiquitination ----
    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, 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
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    Browse Tocris compounds for NHLRC1
    1 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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)

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    Additional cDNA sequence: 

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

    1 DOTS entry:

    DT.99936660 

    13 AceView cDNA sequences:

    NM_198586 CA450023 AY324850 BK001510 BI711470 BU075743 AI275075 AA334003 
    AA868570 BI711752 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
    CGAP TAG: GTCTTTCGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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 chordates.

    Orthologs for NHLRC1 gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    55(a)
    1 ↔ 1
    4(56947532-56948737)


    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
    Paralogs for NHLRC1 gene
    TRIM32  TRIM712  TRIM452  TRIM562  TRIM22  TRIM322  

    NHLRC1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/121 NCBI SNPs in NHLRC1 are shown (see all 121    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219178751,2
    Cpathogenic18066424(-) ATCCCC/TGAGGG 2 R * stg10--------
    rs1219178761,2
    Cpathogenic18066624(-) CTCCAA/TCAAAG 2 N I mis10--------
    rs289405761,2
    Cpathogenic18067012(-) AGTGCC/GCATTC 2 P A mis11Minor allele frequency- G:0.00NA 2
    rs289405751,2
    Cpathogenic18067141(-) TCGAGT/AGCAAG 2 /S /C mis11Minor allele frequency- A:0.00NA 2
    rs756909761,2
    C,--18064606(+) GCATGG/AGAGTT 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs754070011,2
    C,--18064672(+) CAATGC/TTTTGG 1 -- ds50014Minor allele frequency- T:0.05WA NA EA 360
    rs773533481,2
    C,--18064779(+) CTGGGC/TATGGT 1 -- ds50013Minor allele frequency- T:0.09WA NA 240
    rs752893481,2
    C,--18064863(+) AGTGAG/ACAGTG 1 -- ds50012Minor allele frequency- A:0.15WA 120
    rs557385211,2
    C,--18064933(+) ACAAAC/TGAAAA 1 -- ds50013Minor allele frequency- T:0.08WA NA 240
    rs793001791,2
    F,--18065089(+) TAGGCG/ATTAAA 1 -- ds50011Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for NHLRC1 (18120718 - 18122851 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NHLRC1: --
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NHLRC1 for disorders           About GeneDecksing

    OMIM gene information: 608072   
    OMIM disorders: 254780  
    UniProtKB/Swiss-Prot: NHLC1_HUMAN, Q6VVB1
  • Defects in NHLRC1 are a cause of progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]; also known as
  • Lafora disease. EPM2 is 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

    17 diseases for NHLRC1:    About MalaCards
    lafora disease    progressive myoclonus epilepsy    myoclonus epilepsy    neuroleptic malignant syndrome
    myoclonus    gaze palsy    status epilepticus    cerebellar ataxia
    neurodegenerative disease    dementia    brain disease    ataxia
    seizures    blindness    neuropathy    cardiomyopathy
    hepatitis

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

    6 Novoseek 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
    Progressive Myoclonus Epilepsy, Lafora Type

    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 67):
    (articles sorted by number of sources associating them with NHLRC1)
        Utopia: connect your pdf to the dynamic
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    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. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    10. Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. (PubMed id 16950819)1, 9 Singh S....Ganesh S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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

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    Patent Information for NHLRC1 gene:
    Search GeneIP for patents involving NHLRC1

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