Nprl3 MGI Mouse Gene Detail - MGI:109258 - nitrogen permease regulator-like 3

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

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

SNPs within 2kb

943 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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

HGNC:14124

NCBI Gene ID: 8131

neXtProt AC: NX_Q12980

UniProt: Q12980
Chr Location

16p13.3; chr16:84271-138677 (-) GRCh38

MGI Vertebrate Homology

Nprl3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NPRL3
Gene Tree

Nprl3

Diseases

1 with human NPRL3 associations

				Human Disease	Mouse Models
				familial focal epilepsy with variable foci 3 IDs familial focal epilepsy with variable foci 3 DOID:0081423 OMIM:617118

Click on a disease name to see all genes associated with that disease.

References

2 with disease annotations

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Phenotype Summary

29 phenotypes from 1 allele in 1 genetic background
23 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

10
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

1
Targeted

4
Genomic Mutations

2 involving Nprl3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

This gene is deleted in the Hba^th-J mutation.

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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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nprl3

ZFIN nprl3

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All Sequences

76
RefSeq

7
UniProt

9
CCDS

CCDS24521.1

Ensembl

ENSMUSG00000020289 (Evidence)
NCBI Gene

17168

			Length	Strain/Species	Flank
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

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UniProt

9 Sequences
Protein Ontology

PR:000032121 GATOR1 complex protein NPRL3

(term hierarchy)
InterPro Domains

IPR008979 Galactose-binding-like domain superfamily

IPR005365 Nitrogen permease regulator 3
GlyGen

Q8VIJ8 2 sites, 2 N-linked glycans (2 sites)

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All nucleic 32

Genomic 9

cDNA 15

Other 8

Microarray probesets 2

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MGD-MRK-35141, MGD-MRK-38303, MGI:106682

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

TSS for Nprl3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr107304	Chr11:32217583-32217677 (-)	77 bp
Tssr107303	Chr11:32215424-32215428 (-)	2,281 bp
Tssr3459	Chr11:32187238-32187239 (-)	30,468 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24