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Protein Coding Gene : Nprl3 nitrogen permease regulator-like 3
Primary Identifier  MGI:109258 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  17168
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to contribute to GTPase activator activity. Acts upstream of or within circulatory system development and roof of mouth development. Predicted to be located in lysosome and membrane. Predicted to be part of GATOR1 complex. Predicted to be active in lysosomal membrane. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Human ortholog(s) of this gene implicated in familial focal epilepsy with variable foci 3. Orthologous to human NPRL3 (NPR3 like, GATOR1 complex subunit).
PHENOTYPE: This gene is deleted in the Hbath-J mutation. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-38303,
  • proximal locus to the hemoglobin alpha chain complex,
  • MGD-MRK-35141,
  • HS-40,
  • Mare,
  • Prox1,
  • nitrogen permease regulator-like 3,
  • m(alpha)RE,
  • Nprl3,
  • alpha globin regulatory element containing gene,
  • -14 gene,
  • HS-26,
  • MGI:106682,
  • Phg
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Features --> Cross References

Genome

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2 Involved In Mutations

Trail: ProteinCodingGene

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

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Function

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Interactions

4 Pathways

Trail: ProteinCodingGene

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

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