Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | familial focal epilepsy with variable foci 1 | | ISO | NPRL3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | familial focal epilepsy with variable foci 1 | | ISO | NPRL3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Regulation of mTORC1 by amino acids. | Bar-Peled L and Sabatini DM, Trends Cell Biol. 2014 Jul;24(7):400-6. doi: 10.1016/j.tcb.2014.03.003. Epub 2014 Mar 31. |
2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | Comprehensive gene review and curation | RGD comprehensive gene curation |
Nprl3 (Rattus norvegicus - Norway rat) |
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NPRL3 (Homo sapiens - human) |
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Nprl3 (Mus musculus - house mouse) |
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Nprl3 (Chinchilla lanigera - long-tailed chinchilla) |
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NPRL3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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NPRL3 (Canis lupus familiaris - dog) |
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Nprl3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NPRL3 (Sus scrofa - pig) |
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NPRL3 (Chlorocebus sabaeus - green monkey) |
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Nprl3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Nprl3
187 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH135297 |
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RH141154 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 23 | 18 | 12 | 7 | 12 | 3 | 66 | 23 | 40 | 10 | |||
Low | 3 | 20 | 39 | 29 | 12 | 29 | 8 | 8 | 8 | 12 | 1 | 1 | 8 |
Below cutoff |
RefSeq Transcripts | NM_001394235 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001394236 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_172092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006246011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006246012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006246016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006246017 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039086292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039086294 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063269323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063269324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063269325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010055203 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC096051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC099803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000066430 ⟹ ENSRNOP00000060067 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000089435 ⟹ ENSRNOP00000071482 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000094811 ⟹ ENSRNOP00000096488 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001394235 ⟹ NP_001381164 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001394236 ⟹ NP_001381165 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NR_172092 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_006246011 ⟹ XP_006246073 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006246012 ⟹ XP_006246074 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006246016 ⟹ XP_006246078 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039086292 ⟹ XP_038942220 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039086294 ⟹ XP_038942222 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063269323 ⟹ XP_063125393 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063269324 ⟹ XP_063125394 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063269325 ⟹ XP_063125395 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_010055203 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001381164 | (Get FASTA) | NCBI Sequence Viewer |
NP_001381165 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006246073 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006246074 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006246078 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038942220 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038942222 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063125393 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063125394 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063125395 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH99803 | (Get FASTA) | NCBI Sequence Viewer |
EDM04015 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000060067.1 | ||
ENSRNOP00000071482 | |||
ENSRNOP00000071482.1 | |||
ENSRNOP00000096488.1 |
RefSeq Acc Id: | XP_006246078 ⟸ XM_006246016 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q499Q8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006246073 ⟸ XM_006246011 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006246074 ⟸ XM_006246012 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000071482 ⟸ ENSRNOT00000089435 |
RefSeq Acc Id: | ENSRNOP00000060067 ⟸ ENSRNOT00000066430 |
RefSeq Acc Id: | XP_038942220 ⟸ XM_039086292 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038942222 ⟸ XM_039086294 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | ENSRNOP00000096488 ⟸ ENSRNOT00000094811 |
RefSeq Acc Id: | NP_001381164 ⟸ NM_001394235 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A0G2K0K3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001381165 ⟸ NM_001394236 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A6HDB0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063125393 ⟸ XM_063269323 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_063125394 ⟸ XM_063269324 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_063125395 ⟸ XM_063269325 |
- Peptide Label: | isoform X7 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-A0A0G2K0K3-F1-model_v2 | AlphaFold | A0A0G2K0K3 | 1-582 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13697079 | ||||||||
Promoter ID: | EPDNEW_R7602 | ||||||||
Type: | initiation region | ||||||||
Name: | Nprl3_1 | ||||||||
Description: | NPR3-like, GATOR1 complex subunit | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1308665 | AgrOrtholog |
BioCyc Gene | G2FUF-25699 | BioCyc |
Ensembl Genes | ENSRNOG00000020541 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000066430 | ENTREZGENE |
ENSRNOT00000066430.2 | UniProtKB/TrEMBL | |
ENSRNOT00000089435 | ENTREZGENE | |
ENSRNOT00000089435.2 | UniProtKB/TrEMBL | |
ENSRNOT00000094811.1 | UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7937864 | IMAGE-MGC_LOAD |
InterPro | Galactose-bd-like | UniProtKB/TrEMBL |
UPF0171 | UniProtKB/TrEMBL | |
KEGG Report | rno:360505 | UniProtKB/TrEMBL |
MGC_CLONE | MGC:124858 | IMAGE-MGC_LOAD |
NCBI Gene | 360505 | ENTREZGENE |
PANTHER | GATOR COMPLEX PROTEIN NPRL3 | UniProtKB/TrEMBL |
UPF0171 | UniProtKB/TrEMBL | |
Pfam | UPF0171 | UniProtKB/TrEMBL |
PhenoGen | Nprl3 | PhenoGen |
RatGTEx | ENSRNOG00000020541 | RatGTEx |
Superfamily-SCOP | Gal_bind_like | UniProtKB/TrEMBL |
UniProt | A0A0G2K0K3 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I6AV56_RAT | UniProtKB/TrEMBL | |
A6HDB0 | ENTREZGENE, UniProtKB/TrEMBL | |
Q499Q8 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-07-09 | Nprl3 | NPR3-like, GATOR1 complex subunit | Nprl3 | nitrogen permease regulator-like 3 (S. cerevisiae) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2011-08-02 | Nprl3 | nitrogen permease regulator-like 3 (S. cerevisiae) | Mare | alpha globin regulatory element containing gene | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-02-26 | Mare | alpha globin regulatory element containing gene | RGD1308665 | similar to CGTHBA protein (-14 gene protein) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-12-06 | RGD1308665 | similar to CGTHBA protein (-14 gene protein) | RGD1308665_predicted | similar to CGTHBA protein (-14 gene protein) (predicted) | Symbol and Name updated | 1559027 | APPROVED |
2005-01-20 | RGD1308665_predicted | similar to CGTHBA protein (-14 gene protein) (predicted) | LOC360505_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
2005-01-12 | LOC360505_predicted | similar to CGTHBA protein (-14 gene protein) (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |