| Tag | Content |
|---|---|
| Uniprot ID | Q12980; D3DU40; Q1W6H0; Q4TT56; Q92469; |
| Entrez ID | 8131 |
| Genbank protein ID | CAI94885.1; EAW85865.1; ABD95907.1; EAW85867.1; CAA62368.1; CAI95611.1; |
| Genbank nucleotide ID | NM_001077350.2 |
| Ensembl protein ID | ENSP00000478273; ENSP00000483814; |
| Ensembl nucleotide ID | ENSG00000103148 |
| Gene name | GATOR complex protein NPRL3 |
| Gene symbol | NPRL3 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| 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 | MRDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTS KPRSRYAASN TGDHADEQDG 60 DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL QHALGQISKT DPSPKREAPT 120 MILFNVVFAL RANADPSVIN CLHNLSRRIA TVLQHEERRC QYLTREAKLI LALQDEVSAM 180 ADGNEGPQSP FHHILPKCKL ARDLKEAYDS LCTSGVVRLH INSWLEVSFC LPHKIHYAAS 240 SLIPPEAIER SLKAIRPYHA LLLLSDEKSL LGELPIDCSP ALVRVIKTTS AVKNLQQLAQ 300 DADLALLQVF QLAAHLVYWG KAIIIYPLCE NNVYMLSPNA SVCLYSPLAE QFSHQFPSHD 360 LPSVLAKFSL PVSLSEFRNP LAPAVQETQL IQMVVWMLQR RLLIQLHTYV CLMASPSEEE 420 PRPREDDVPF TARVGGRSLS TPNALSFGSP TSSDDMTLTS PSMDNSSAEL LPSGDSPLNQ 480 RMTENLLASL SEHERAAILS VPAAQNPEDL RMFARLLHYF RGRHHLEEIM YNENTRRSQL 540 LMLFDKFRSV LVVTTHEDPV IAVFQALLP 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.