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Nhlrc1 Gene Detail
Summary
  • Symbol
    Nhlrc1
  • Name
    NHL repeat containing 1
  • Synonyms
    B230309E09Rik, EPM2B, Malin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2145264
    NCBI Gene: 105193
  • Gene Overview
    MyGene.info: NHLRC1
Location & Maps
more
  • Sequence Map
    Chr13:47012558-47014850 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2293 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NHLRC1, NHL repeat containing E3 ubiquitin protein ligase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NHLRC1, NHL repeat containing E3 ubiquitin protein ligase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bA204B7.2, EPM2A, EPM2B, MALIN
  • Links
    NCBI Gene ID: 378884
    neXtProt AC: NX_Q6VVB1

  • Chr Location
    6p22.3; chr6:18120487-18122620 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Nhlrc1 mouse models; 1 with human NHLRC1 associations

Human Disease Mouse Models
       Myoclonic Epilepsy of Lafora   OMIM: 254780 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 3 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    1 images
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Nhlrc1
  • Incidental Mutations
    APF , CvDC
Mice homozygous for a knock-out allele exhibit accumulation of Lafora bodies and total glycogen levels in the heart muscle, skeletal muscle, and brain.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000044231 Ensembl Gene Model | MGI Sequence Detail 2293 C57BL/6J ±  kb
transcript ENSMUST00000052747 Ensembl | MGI Sequence Detail 2293 Not Applicable  
polypeptide ENSMUSP00000054990 Ensembl | MGI Sequence Detail 401 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    64 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 12
    cDNA 12

    Microarray probesets 3
References
more
  • Summaries
    All 36
    Diseases 3
    Gene Ontology 5
    Phenotypes 14
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:217884 DePaoli-Roach AA, et al., Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, lafora disease. J Biol Chem. 2015 Jan 9;290(2):841-50

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory