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Nprl3 Gene Detail
Summary
  • Symbol
    Nprl3
  • Name
    nitrogen permease regulator-like 3
  • Synonyms
    -14 gene, HS-26, HS-40, m(alpha)RE, Mare, Phg, Prox1
  • Feature Type
    protein coding gene
  • IDs
    MGI:109258
    NCBI Gene: 17168
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:32181963-32217707 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 18.83 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    943 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109258
 protein coding gene Chr11:32175628-32217707 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018129
 protein coding gene Chr11:30423166-30472604 (-)
A/J MGP_AJ_G0018102
 protein coding gene Chr11:29272363-29314855 (-)
AKR/J MGP_AKRJ_G0018066
 protein coding gene Chr11:30197933-30241092 (-)
BALB/cJ MGP_BALBcJ_G0018071
 protein coding gene Chr11:29467774-29511696 (-)
C3H/HeJ MGP_C3HHeJ_G0017884
 protein coding gene Chr11:30146020-30190362 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018523
 protein coding gene Chr11:31428433-31479292 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016178
 protein coding gene Chr11:27806047-27847943 (-)
CAST/EiJ MGP_CASTEiJ_G0017446
 protein coding gene Chr11:30176742-30219210 (-)
CBA/J MGP_CBAJ_G0017857
 protein coding gene Chr11:32927210-32974325 (-)
DBA/2J MGP_DBA2J_G0017967
 protein coding gene Chr11:29071906-29113585 (-)
FVB/NJ MGP_FVBNJ_G0017961
 protein coding gene Chr11:28893840-28936174 (-)
LP/J MGP_LPJ_G0018039
 protein coding gene Chr11:30658741-30703982 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017985
 protein coding gene Chr11:33920327-33964334 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018564
 protein coding gene Chr11:30330285-30380357 (-)
PWK/PhJ MGP_PWKPhJ_G0017229
 protein coding gene Chr11:29222575-29264783 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017023
 protein coding gene Chr11:30024479-30065814 (-)
WSB/EiJ MGP_WSBEiJ_G0017499
 protein coding gene Chr11:29965443-30008544 (-)



Homology
more
  • Human Ortholog
    NPRL3, NPR3 like, GATOR1 complex subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NPRL3, NPR3 like, GATOR1 complex subunit
  • Synonyms
    C16orf35, CGTHBA, FFEVF3, HS-40, MARE, NPR3, RMD11
  • Links
    NCBI Gene ID: 8131
    neXtProt AC: NX_Q12980
    UniProt: Q12980

  • Chr Location
    16p13.3; chr16:84271-138677 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human NPRL3 associations

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

  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 1 allele in 1 genetic background
    23 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.
This gene is deleted in the Hbath-J mutation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    5
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
    718
  • Tissues
    12
  • cDNA Data
    15
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17168 NCBI Gene Model | MGI Sequence Detail 35745 C57BL/6J ±  kb
    transcript NR_104306 RefSeq | MGI Sequence Detail 3085 Not Specified  
    polypeptide Q8VIJ8 UniProt | EBI | MGI Sequence Detail 569 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 9
      cDNA 15
      Other 8

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-35141, MGD-MRK-38303, MGI:106682
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 5
      Phenotypes 23
    • Earliest
      J:110 Popp RA, et al., Studies on the mouse hemoglobin locus. I. Identification of hemoglobin types and linkage of hemoglobin with albinism. J Hered. 1960;51(3):141-144
    • Latest
      J:332370 Jiang C, et al., Ring domains are essential for GATOR2-dependent mTORC1 activation. Mol Cell. 2023 Jan 5;83(1):74-89.e9
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory