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Nhlrc1
Gene Detail
Symbol

Name
ID
Nhlrc1
NHL repeat containing 1
MGI:2145264
Synonyms
B230309E09Rik, EPM2B, Malin
Feature Type
protein coding gene
Genetic Map
Chromosome 13
24.50 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr13:47012558-47014850 bp, - strand
From Ensembl annotation of GRCm38

  2293 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:18439  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Gene Tree: Nhlrc1

Human
homologs
Human Homolog NHLRC1, NHL repeat containing E3 ubiquitin protein ligase 1
NCBI Gene ID 378884
neXtProt AC  NX_Q6VVB1
Human Synonyms  bA204B7.2, EPM2A, EPM2B, MALIN
Human Chr (Location)  6p22.3; chr6:18120487-18122620 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human NHLRC1
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from APF )
 
Mice homozygous for a knock-out allele exhibit accumulation of Lafora bodies and total glycogen levels in the heart muscle, skeletal muscle, and brain.
 
Human Diseases Modeled Using Mouse Nhlrc1 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)
Interactions
Nhlrc1 interacts with 161 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
cDNA source data(12)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(12) cDNA(12)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000044231 (Evidence)
Entrez Gene105193 (Evidence)
UniGene25593
DFCITC1584320
DoTSDT.101709005
NIA Mouse Gene IndexU133903
EC6.3.2.-
Consensus CDS ProjectCCDS26487.1
International Mouse Knockout Project StatusNhlrc1
Sequences
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 sequences
All sequences(21) RefSeq(2) UniProt(2)
Polymorphisms
SNPs within 2kb(68 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013017 NHL repeat, subgroup
InterPro IPR011042 Six-bladed beta-propeller, TolB-like
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
InterPro IPR017907 Zinc finger, RING-type, conserved site
Protein Ontology PR:000032584 E3 ubiquitin-protein ligase NHLRC1
References
(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:199271 Nitschke F, et al., Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease. Cell Metab. 2013 May 7;17(5):756-67
All references(35)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory