Gene

nprl3

ID

ZDB-GENE-030131-1348

Name

NPR3-like, GATOR1 complex subunit

Symbol

nprl3 Nomenclature History

Previous Names

fb68d06
sb:eu985
si:ch211-5k11.11
si:xx-187g17.8 (1)
si:xx-by187g17.8 (1)
wu:fb68d06 (1)
zgc:136620

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to be involved in several processes, including TORC1 signaling; cellular response to amino acid starvation; and negative regulation of TORC1 signaling. Predicted to act upstream of or within negative regulation of TOR signaling. Predicted to be part of GATOR1 complex. Human ortholog(s) of this gene implicated in focal epilepsy. Orthologous to human NPRL3 (NPR3 like, GATOR1 complex subunit).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2005

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu985 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With nprl3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
familial focal epilepsy with variable foci 3	Alliance	Epilepsy, familial focal, with variable foci 3	617118

Associated With nprl3 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR005365	Nitrogen permease regulator 3
Homologous_superfamily	IPR008979	Galactose-binding-like domain superfamily

Domain Details Per Protein

Protein	Length	Galactose-binding-like domain superfamily	Nitrogen permease regulator 3
UniProtKB:A0A8M9PZW5 InterPro	614
UniProtKB:A0A8M1N6Y7 InterPro	596
UniProtKB:A0A8M9P7H2 InterPro	609
UniProtKB:A0A8M9PWD6 InterPro	601
UniProtKB:A0A8M3AYD2 InterPro	513