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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:47166033-47168326 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 24.50 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    157 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2145264
 protein coding gene Chr13:47166033-47168326 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020517
 protein coding gene Chr13:45818523-45820805 (-)
A/J MGP_AJ_G0020471
 protein coding gene Chr13:44219119-44221401 (-)
AKR/J MGP_AKRJ_G0020448
 protein coding gene Chr13:45432343-45434635 (-)
BALB/cJ MGP_BALBcJ_G0020467
 protein coding gene Chr13:44425282-44427564 (-)
C3H/HeJ MGP_C3HHeJ_G0020266
 protein coding gene Chr13:45296855-45299137 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020900
 protein coding gene Chr13:47199382-47201674 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018485
 protein coding gene Chr13:42263705-42266007 (-)
CAST/EiJ MGP_CASTEiJ_G0019781
 protein coding gene Chr13:45237591-45239895 (-)
CBA/J MGP_CBAJ_G0020227
 protein coding gene Chr13:49159000-49161282 (-)
DBA/2J MGP_DBA2J_G0020349
 protein coding gene Chr13:43773476-43775758 (-)
FVB/NJ MGP_FVBNJ_G0020328
 protein coding gene Chr13:43291303-43293585 (-)
LP/J MGP_LPJ_G0020424
 protein coding gene Chr13:46039226-46041508 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020357
 protein coding gene Chr13:48984732-48987014 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020943
 protein coding gene Chr13:45132580-45134862 (-)
PWK/PhJ MGP_PWKPhJ_G0019537
 protein coding gene Chr13:43906371-43908663 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019365
 protein coding gene Chr13:43805129-43807416 (-)
WSB/EiJ MGP_WSBEiJ_G0019843
 protein coding gene Chr13:45442974-45445266 (-)



Homology
more
  • Human Ortholog
    NHLRC1, NHL repeat containing E3 ubiquitin protein ligase 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NHLRC1, NHL repeat containing E3 ubiquitin protein ligase 1
  • Synonyms
    bA204B7.2, EPM2A, EPM2B, MALIN, MELF2
  • Links
    NCBI Gene ID: 378884
    neXtProt AC: NX_Q6VVB1
    UniProt: Q6VVB1

  • Chr Location
    6p22.3; chr6:18120440-18122677 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nhlrc1 mouse models

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 3 alleles in 4 genetic backgrounds
    8 phenotypes from multigenic genotypes
    1 images
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    39
  • GO References
    16
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 105193 NCBI Gene Model | MGI Sequence Detail 2294 C57BL/6J ±  kb
    transcript NM_175340 RefSeq | MGI Sequence Detail 2308 C57BL/6  
    polypeptide Q8BR37 UniProt | EBI | MGI Sequence Detail 401 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 13

      Microarray probesets 3
    References
    more
    • Summaries
      All 74
      Diseases 4
      Gene Ontology 16
      Phenotypes 40
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:348085 Skurat AV, et al., Impaired malin expression and interaction with partner proteins in Lafora disease. J Biol Chem. 2024 Apr 7;300(5):107271
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory