ENSMUSG00000020289


Mus musculus

Features
Gene ID: ENSMUSG00000020289
  
Biological name :Nprl3
  
Synonyms : GATOR complex protein NPRL3 / Nprl3 / Q8VIJ8
  
Possible biological names infered from orthology : NPR3 like, GATOR1 complex subunit / Q12980
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: A4
Gene start: 32225628
Gene end: 32267707
  
Corresponding Affymetrix probe sets: 10385004 (MoGene1.0st)   1433548_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000120341
Ensembl peptide - ENSMUSP00000123219
Ensembl peptide - ENSMUSP00000122231
Ensembl peptide - ENSMUSP00000122085
Ensembl peptide - ENSMUSP00000020530
Ensembl peptide - ENSMUSP00000105016
Ensembl peptide - ENSMUSP00000114781
Ensembl peptide - ENSMUSP00000115594
NCBI entrez gene - 17168     See in Manteia.
MGI - MGI:109258
RefSeq - NM_001284360
RefSeq - NM_181569
RefSeq - NM_001284359
RefSeq Peptide - NP_001271288
RefSeq Peptide - NP_001271289
RefSeq Peptide - NP_853547
swissprot - Q8VIJ8
swissprot - A7M7S2
swissprot - A2AAX8
swissprot - F2Z3V7
swissprot - F2Z3Y4
swissprot - F2Z404
swissprot - D6RGB2
Ensembl - ENSMUSG00000020289
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nprl3ENSDARG00000010918Danio rerio
 NPRL3ENSGALG00000007456Gallus gallus
 NPRL3ENSG00000103148Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR005365  Nitrogen permease regulator 3
 IPR008979  Galactose-binding-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0032007 negative regulation of TOR signaling IEA
 biological_processGO:0034198 cellular response to amino acid starvation IEA
 biological_processGO:0035909 aorta morphogenesis IMP
 biological_processGO:0038202 TORC1 signaling IBA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0048738 cardiac muscle tissue development IMP
 biological_processGO:0060021 roof of mouth development IMP
 biological_processGO:2000785 regulation of autophagosome assembly IBA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane ISO
 cellular_componentGO:0005773 vacuole IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:1990130 GATOR1 complex IEA
 molecular_functionGO:0005096 GTPase activator activity ISO


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000245 abnormal erythropoiesis "atypical process of red blood cell formation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hba/Nprl3tm1.1Wgw/Hba/Nprl3tm1.1Wgw
Genetic Background: involves: 129P2/OlaHsd * CD-1

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000273 overriding aorta "congenitally mispositioned aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left." [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:67826]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000279 ventricular hypoplasia "reduction in cell number of one or both of the two lower chambers of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61790]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000484 abnormal pulmonary artery morphology "structrual anomaly of the artery that arises from the right ventricle and conveys unaerated blood to the lungs " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, hdene:Howard Dene, Mouse Genome Informatics Curator]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000596 abnormal liver development "anomalous differentiation of the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mitfmi-vit/Mitfmi-vit
Genetic Background: C57BL/6J-Mitfmi-vit/J

 MP:0001577 anemia "less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Mitfmi-vit/Mitfmi-vit
Genetic Background: C57BL/6J-Mitfmi-vit/J

 MP:0001588 hemoglobin abnormalities "defects in the levels or the function of the oxygen-carrying protein of erythrocytes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mitfmi-vit/Mitfmi-vit
Genetic Background: C57BL/6J-Mitfmi-vit/J

Allelic Composition: Hba/Nprl3tm1Wgw/Hba/Nprl3tm1Wgw
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Hba/Nprl3tm1.1Wgw/Hba/Nprl3tm1.1Wgw
Genetic Background: involves: 129P2/OlaHsd * CD-1

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002189 abnormal myocardial trabeculae morphology "malformation of the supporting bundles of muscular fibers lining the walls of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002447 abnormal erythrocyte morphology "structural anomaly of the cells in the blood that carry oxygen, red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Hba/Nprl3tm1Wgw/Hba/Nprl3tm1Wgw
Genetic Background: involves: 129P2/OlaHsd

 MP:0002450 abnormal lymph organ development "anomaly in the process of morphological maturation of the organs of the lymph system " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002591 decreased mean corpuscular volume "less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mitfmi-vit/Mitfmi-vit
Genetic Background: C57BL/6J-Mitfmi-vit/J

Allelic Composition: Hba/Nprl3tm1.1Wgw/Nprl3+
Genetic Background: involves: 129P2/OlaHsd * CD-1

Allelic Composition: Hba/Nprl3tm1.1Wgw/Hba/Nprl3tm1.1Wgw
Genetic Background: involves: 129P2/OlaHsd * CD-1

 MP:0002642 anisocytosis "blood cells of variable size on smear" [J:7209, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mitfmi-vit/Mitfmi-vit
Genetic Background: C57BL/6J-Mitfmi-vit/J

 MP:0002643 poikilocytosis "blood cells of variable shape on smear" [J:7209, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mitfmi-vit/Mitfmi-vit
Genetic Background: C57BL/6J-Mitfmi-vit/J

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mitfmi-vit/Mitfmi-vit
Genetic Background: C57BL/6J-Mitfmi-vit/J

 MP:0003385 abnormal body wall "malformation in the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Hba/Nprl3tm1Wgw/Hba/Nprl3tm1Wgw
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0004113 abnormal aortic arch morphology "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0004157 interrupted aortic arch "complete discontinuation/blockage between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0004158 right aortic arch "the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Lama1tm1.1Arhi/Lama1tm1.2Arhi,Edil3Tg(Sox2-cre)1Amc/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005562 decreased mean corpuscular hemoglobin "less than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mitfmi-vit/Mitfmi-vit
Genetic Background: C57BL/6J-Mitfmi-vit/J

Allelic Composition: Hba/Nprl3tm1.1Wgw/Nprl3+
Genetic Background: involves: 129P2/OlaHsd * CD-1

Allelic Composition: Hba/Nprl3tm1.1Wgw/Hba/Nprl3tm1.1Wgw
Genetic Background: involves: 129P2/OlaHsd * CD-1

 MP:0008022 dilated heart ventricles "the lumenal space of the lower chambers of the heart is increased in volume or area, usually with an increase in contained fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0010146 umbilical hernia "an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator", PMID:20333300]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0010426 abnormal heart and great artery attachment "any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0010439 abnormal hepatic vein morphology "any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0010499 abnormal ventricle myocardium morphology "any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0010556 thin ventricle myocardium compact layer "reduced thickness of the ventricular portion of the outer, dense layer of the myocardium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0010912 herniated liver "protrusion of any portion of the liver from its normal anatomical position" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Hba/Nprl3tm1Wgw/Hba/Nprl3tm1Wgw
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

 MP:0012269 nuchal edema "abnormal accumulation of subcutaneous fluid in the nuchal region i.e. at the back of the neck" [MGI:anna]
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Allelic Composition: Nprl3tm1.1Drhi/Nprl3tm1.1Drhi
Genetic Background: involves: 129P2/OlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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