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FLASH GENE

Symbol

NPRL3

contributors: mct/npt - updated : 28-06-2017

HGNC name	NPR3 like, GATOR1 complex subunit
HGNC id	14124

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001039476 11 - 2753 NP_001034565 - 390 - 2009 19666006 exclusion of exons 4 and 5 introduces a stop codon after the first AUG, so the predicted protein starts from an internal AUG located in exon 6 NM_001077350 14 - 2713 NP_001070818 56 569 - 2009 19666006 NM_001243248 13 - 2938 NP_001230177 - 544 - 2009 19666006 NM_001243249 12 - 2970 NP_001230178 - 544 - 2009 19666006 NM_001243247 15 - 2875 NP_001230176 - 491 - 2009 19666006

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine parathyroid       highly Lymphoid/Immune lymph node       highly   spleen       highly Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to the yeast gene Npr3

intraspecies

paralog to NPRL2

Homologene

FAMILY

UPF0171 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm,nuclear bodies,PML
text	nuclear and cytosolic distribution, and can localize to PML nuclear bodies (Lunardi 2009)

basic FUNCTION	inhibits cell proliferation in a dose-dependent manner
	is required for normal development of the cardiovascular system

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

DEPDC5, NPRL2 and NPRL3 are components of Gap Activity TOward Rags 1 (GATOR1), a complex involved in the inhibition of the mTOR complex 1 (MTOR)

INTERACTION

DNA

RNA

small molecule

protein

interacts with human TP73 (can modulate differentially the specific activities of selected TP73 isoforms) (Lunardi 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FFEVF3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   inhibit cell proliferation (Lunardi 2009)

Susceptibility

Variant & Polymorphism

Candidate gene	is a candidate gene for harbouring mutations in individuals with developmental abnormalities of the cardiovascular system
Marker
Therapy target

ANIMAL & CELL MODELS