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. | MGD IEA | MGD IEA |
3. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
4. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:17168 | PMID:7606006 | PMID:8838797 | PMID:8854862 | PMID:8995756 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11157800 | PMID:11217851 | PMID:12393394 |
PMID:12477932 | PMID:12920035 | PMID:14610273 | PMID:15489334 | PMID:15782199 | PMID:16002065 | PMID:16141072 | PMID:16141073 | PMID:21677750 | PMID:21873635 | PMID:22264824 | PMID:22538705 |
PMID:26818521 | PMID:34965576 | PMID:35136953 | PMID:36528027 |
Nprl3 (Mus musculus - house mouse) |
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NPRL3 (Homo sapiens - human) |
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Nprl3 (Rattus norvegicus - Norway rat) |
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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
1485 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 |
AI326268 |
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21.MMHAP67FLG3.seq |
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RefSeq Transcripts | NM_001284359 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001284360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_181569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_104306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK036405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK036633 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK039600 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK047190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK081902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK086378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK090290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK154884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK179291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK184012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL662780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL929446 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY016021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC064471 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX248420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY210864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466604 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S78508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000020530 ⟹ ENSMUSP00000020530 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000109389 ⟹ ENSMUSP00000105016 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000109390 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000123411 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000124640 ⟹ ENSMUSP00000122085 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000125256 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000127657 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000129010 ⟹ ENSMUSP00000123219 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000129573 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000132856 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000136903 ⟹ ENSMUSP00000114781 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000137950 ⟹ ENSMUSP00000115594 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000141859 ⟹ ENSMUSP00000120341 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000146890 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000148636 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000149526 ⟹ ENSMUSP00000122231 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001284359 ⟹ NP_001271288 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001284360 ⟹ NP_001271289 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_181569 ⟹ NP_853547 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_104306 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001271288 | (Get FASTA) | NCBI Sequence Viewer |
NP_001271289 | (Get FASTA) | NCBI Sequence Viewer | |
NP_853547 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH64471 | (Get FASTA) | NCBI Sequence Viewer |
AAL32369 | (Get FASTA) | NCBI Sequence Viewer | |
BAC29415 | (Get FASTA) | NCBI Sequence Viewer | |
BAC29512 | (Get FASTA) | NCBI Sequence Viewer | |
BAC32985 | (Get FASTA) | NCBI Sequence Viewer | |
BAC38366 | (Get FASTA) | NCBI Sequence Viewer | |
EDL23760 | (Get FASTA) | NCBI Sequence Viewer | |
EDL23761 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000020530 | ||
ENSMUSP00000020530.6 | |||
ENSMUSP00000105016.3 | |||
ENSMUSP00000114781.2 | |||
ENSMUSP00000115594.2 | |||
ENSMUSP00000120341.2 | |||
ENSMUSP00000122085.2 | |||
ENSMUSP00000122231.2 | |||
ENSMUSP00000123219.2 | |||
GenBank Protein | Q8VIJ8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_853547 ⟸ NM_181569 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8VIJ8 (UniProtKB/Swiss-Prot), Q8BXG6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001271289 ⟸ NM_001284360 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q8BZ59 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001271288 ⟸ NM_001284359 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8BXG6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000122085 ⟸ ENSMUST00000124640 |
RefSeq Acc Id: | ENSMUSP00000020530 ⟸ ENSMUST00000020530 |
RefSeq Acc Id: | ENSMUSP00000122231 ⟸ ENSMUST00000149526 |
RefSeq Acc Id: | ENSMUSP00000123219 ⟸ ENSMUST00000129010 |
RefSeq Acc Id: | ENSMUSP00000105016 ⟸ ENSMUST00000109389 |
RefSeq Acc Id: | ENSMUSP00000115594 ⟸ ENSMUST00000137950 |
RefSeq Acc Id: | ENSMUSP00000114781 ⟸ ENSMUST00000136903 |
RefSeq Acc Id: | ENSMUSP00000120341 ⟸ ENSMUST00000141859 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8VIJ8-F1-model_v2 | AlphaFold | Q8VIJ8 | 1-569 | view protein structure |
RGD ID: | 6821253 | ||||||||
Promoter ID: | MM_KWN:6872 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Kidney, Spleen | ||||||||
Transcripts: | OTTMUST00000012002 | ||||||||
Position: |
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RGD ID: | 6821251 | ||||||||
Promoter ID: | MM_KWN:6875 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Spleen | ||||||||
Transcripts: | OTTMUST00000011998, OTTMUST00000011999 | ||||||||
Position: |
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RGD ID: | 6821252 | ||||||||
Promoter ID: | MM_KWN:6878 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | ENSMUST00000109389, OTTMUST00000011992, OTTMUST00000011993, OTTMUST00000011994, OTTMUST00000011995, OTTMUST00000068464, OTTMUST00000068465, OTTMUST00000084701, OTTMUST00000086413, UC007IJG.1, UC007IJI.1 | ||||||||
Position: |
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RGD ID: | 8674230 | ||||||||
Promoter ID: | EPDNEW_M15146 | ||||||||
Type: | initiation region | ||||||||
Name: | Nprl3_1 | ||||||||
Description: | Mus musculus nitrogen permease regulator-like 3 , transcriptvariant 4, non-coding RNA. | ||||||||
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 | MGI:109258 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000020289 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000020530 | ENTREZGENE |
ENSMUST00000020530.12 | UniProtKB/Swiss-Prot | |
ENSMUST00000109389.9 | UniProtKB/TrEMBL | |
ENSMUST00000124640.8 | UniProtKB/TrEMBL | |
ENSMUST00000129010.2 | UniProtKB/TrEMBL | |
ENSMUST00000136903 | ENTREZGENE | |
ENSMUST00000136903.8 | UniProtKB/TrEMBL | |
ENSMUST00000137950.8 | UniProtKB/TrEMBL | |
ENSMUST00000141859.8 | UniProtKB/TrEMBL | |
ENSMUST00000149526.2 | UniProtKB/TrEMBL | |
InterPro | Galactose-bd-like_sf | UniProtKB/Swiss-Prot |
Npr3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:17168 | UniProtKB/Swiss-Prot |
MGD | MGI:109258 | ENTREZGENE |
NCBI Gene | 17168 | ENTREZGENE |
PANTHER | GATOR COMPLEX PROTEIN NPRL3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR13153 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | NPR3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Nprl3 | PhenoGen |
Superfamily-SCOP | SSF49785 | UniProtKB/Swiss-Prot |
UniProt | A2AAX8_MOUSE | UniProtKB/TrEMBL |
A7M7S2_MOUSE | UniProtKB/TrEMBL | |
D6RGB2_MOUSE | UniProtKB/TrEMBL | |
F2Z3V7_MOUSE | UniProtKB/TrEMBL | |
F2Z3Y4_MOUSE | UniProtKB/TrEMBL | |
F2Z404_MOUSE | UniProtKB/TrEMBL | |
NPRL3_MOUSE | UniProtKB/Swiss-Prot | |
Q8BXG6 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8BZ59 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8VIJ8 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2012-07-05 | Nprl3 | nitrogen permease regulator-like 3 | Nprl3 | nitrogen permease regulator-like 3 (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |
2011-07-27 | Nprl3 | nitrogen permease regulator-like 3 (S. cerevisiae) | Mare | alpha globin regulatory element containing gene | Symbol and/or name change | 5135510 | APPROVED |