AutismKB 2.0

Annotation Details for NPRL3


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Basic Information Top
Gene Symbol:NPRL3 ( C16orf35,CGTHBA,HS-40,MARE,NPR3,RMD11 )
Gene Full Name: nitrogen permease regulator-like 3 (S. cerevisiae)
Band: 16p13.3
Quick LinksEntrez ID:8131; OMIM: 600928; Uniprot ID:NPRL3_HUMAN; ENSEMBL ID: ENSG00000103148; HGNC ID: 14124
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005575ND-cellular_component-
GO:0005765IDA-lysosomal membrane28199306
GO:0005773IBA-vacuole-
GO:1990130IDA-GATOR1 complex23723238
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005096IDAcontributes_toGTPase activator activity23723238
GO ID Evidence Qualifier GO_term References
GO:0003281IEA-ventricular septum development-
GO:0008150ND-biological_process-
GO:0032007IMP-negative regulation of TOR signaling23723238
GO:0034198IMP-cellular response to amino acid starvation23723238
GO:0035909IEA-aorta morphogenesis-
GO:0038202IBA-TORC1 signaling-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0048738IEA-cardiac muscle tissue development-
GO:0060021IEA-palate development-
GO:2000785IBA-regulation of autophagosome assembly-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NPRL3TP5311379620308539 Affinity Capture-Western
NPRL3TP5311301020308539 Affinity Capture-Western
NPRL3TP7311379620308539 Affinity Capture-Western
NPRL3TP7311301420308539 Affinity Capture-Western
NPRL2NPRL311379619521502 Affinity Capture-Western
NPRL2NPRL311588519521502 Affinity Capture-Western
TP63NPRL311379620308539 Affinity Capture-Western
TP63NPRL311418120308539 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109258
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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