ENSG00000103148


Homo sapiens

Features
Gene ID: ENSG00000103148
  
Biological name :NPRL3
  
Synonyms : NPR3 like, GATOR1 complex subunit / NPRL3 / Q12980
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.3
Gene start: 84271
Gene end: 138860
  
Corresponding Affymetrix probe sets: 203289_s_at (Human Genome U133 Plus 2.0 Array)   210672_s_at (Human Genome U133 Plus 2.0 Array)   214273_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000405942
Ensembl peptide - ENSP00000418475
Ensembl peptide - ENSP00000483814
Ensembl peptide - ENSP00000478273
Ensembl peptide - ENSP00000478045
Ensembl peptide - ENSP00000477801
Ensembl peptide - ENSP00000477764
Ensembl peptide - ENSP00000382834
Ensembl peptide - ENSP00000395288
Ensembl peptide - ENSP00000399894
Ensembl peptide - ENSP00000401529
NCBI entrez gene - 8131     See in Manteia.
OMIM - 600928
RefSeq - NM_001077350
RefSeq - NM_001243247
RefSeq - NM_001243248
RefSeq - NM_001243249
RefSeq - NM_001039476
RefSeq Peptide - NP_001070818
RefSeq Peptide - NP_001230176
RefSeq Peptide - NP_001230177
RefSeq Peptide - NP_001230178
RefSeq Peptide - NP_001034565
swissprot - Q12980
swissprot - B1B1F5
swissprot - A0A087WTP7
swissprot - A0A087WTE2
swissprot - A0A087WTD0
swissprot - F8WBJ1
swissprot - F8WCB2
swissprot - F8WDA5
swissprot - F8WEK7
swissprot - B7Z6Q0
Ensembl - ENSG00000103148
  
Related genetic diseases (OMIM): 617118 - Epilepsy, familial focal, with variable foci 3, 617118
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nprl3ENSDARG00000010918Danio rerio
 NPRL3ENSGALG00000007456Gallus gallus
 Nprl3ENSMUSG00000020289Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR005365  Nitrogen permease regulator 3


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


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0003829 Incomplete penetrance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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