| Tag | Content |
|---|---|
| Uniprot ID | Q8VIJ8 |
| Entrez ID | 17168 |
| Genbank protein ID | AAH64471.1; BAC38366.1; AAL32369.1; BAC29415.1; |
| Genbank nucleotide ID | NM_181569.3; NM_001284359.1; NM_001284360.1; |
| Ensembl protein ID | ENSMUSP00000020530 |
| Ensembl nucleotide ID | ENSMUSG00000020289 |
| Gene name | GATOR complex protein NPRL3 |
| Gene symbol | Nprl3 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 22538705 |
| Functional description | As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway. |
| Sequence | MGDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTN KPRSRYAVNN TGEHADDQDG 60 DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL QHALGQVSKT DPSPKREAPT 120 MILFNVVFAL RANADPSVIN CLHNLSRRIA TVLQHEERRC QYLTREAKLI LALQDEVSAM 180 ADANEGPQSP FQHILPKCKL ARDLKEAYDS LCTSGVVRLH INSWLEVSFC LPHKIHYAAS 240 SLIPPEAIER SLKAIRPYHA LLLLSDEKSL LSELPIDCSP ALVRVIKTTS AVKNLQQLAQ 300 DADLALLQVF QLAAHLVYWG KAVIIYPLCE NNVYVMSPNA SVCLYSPLAE QFSRQFPSHD 360 LPSVLAKFSL PVSLSEFRSP LAPPAQETQL IQMVVWMLQR RLLIQLHTYV CLMASPSEEE 420 PRLREDDVPF TARVGGRSLS TPNALSFGSP TSSDDMTLTS PSMDNSSAEL LPSGDSPLNK 480 RMTENLLASL SEHERAAILN VPAAQNPEDL RMFARLLHYF RGRHHLEEIM YNENTRRSQL 540 LMLFDKFRSV LVVTTHEDPV IAVFQALLT 569 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | NPRL3 | 102185418 | A0A452EG12 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | NPRL3 | 8131 | Q12980 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Nprl3 | 17168 | Q8VIJ8 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | NPRL3 | A0A2I3SNN6 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | 100521441 | A0A4X1UMH2 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Nprl3 | 360505 | A0A0G2K0K3 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | nprl3 | F1QH43 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005096 | GTPase activator activity | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003281 | ventricular septum development | IMP |
| GO:0032007 | negative regulation of TOR signaling | ISO |
| GO:0032007 | negative regulation of TOR signaling | IBA |
| GO:0034198 | cellular response to amino acid starvation | ISO |
| GO:0034198 | cellular response to amino acid starvation | IBA |
| GO:0035909 | aorta morphogenesis | IMP |
| GO:0038202 | TORC1 signaling | IBA |
| GO:0043547 | positive regulation of GTPase activity | IEA |
| GO:0048738 | cardiac muscle tissue development | IMP |
| GO:0060021 | roof of mouth development | IMP |
| GO:2000785 | regulation of autophagosome assembly | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005765 | lysosomal membrane | ISS |
| GO:0005765 | lysosomal membrane | ISO |
| GO:1990130 | GATOR1 complex | ISO |
| GO:1990130 | GATOR1 complex | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-2262752 | Cellular responses to stress | IEA |
| R-MMU-8953897 | Cellular responses to external stimuli | IEA |
| R-MMU-9639288 | Amino acids regulate mTORC1 | IEA |
| Pfam ID | Pfam Term |
|---|---|
| PF03666 | NPR3 |