Recombinant Human Nitrogen permease regulator 3-like protein(NPRL3)

Code CSB-YP619643HU
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Source Yeast
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Code CSB-EP619643HU
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Source E.coli
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Code CSB-EP619643HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP619643HU
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Source Baculovirus
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Code CSB-MP619643HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names NPRL3
Uniprot No. Q12980
Alternative Names 4 gene protein; Alpha-globin regulatory element-containing gene protein; C16ORF35; CGTHBA; Conserved gene telomeric to alpha globin cluster; HS 40; MARE; Nitrogen permease regulator 3-like protein; Nitrogen permease regulator-like 3 (S. cerevisiae); NPR3; NPRL3; NPRL3_HUMAN; Protein CGTHBA; RMD11
Species Homo sapiens (Human)
Expression Region 1-569
Target Protein Sequence MRDNTSPISV ILVSSGSRGN KLLFRYPFQR SQEHPASQTS KPRSRYAASN TGDHADEQDG DSRFSDVILA TILATKSEMC GQKFELKIDN VRFVGHPTLL QHALGQISKT DPSPKREAPT MILFNVVFAL RANADPSVIN CLHNLSRRIA TVLQHEERRC QYLTREAKLI LALQDEVSAM ADGNEGPQSP FHHILPKCKL ARDLKEAYDS LCTSGVVRLH INSWLEVSFC LPHKIHYAAS SLIPPEAIER SLKAIRPYHA LLLLSDEKSL LGELPIDCSP ALVRVIKTTS AVKNLQQLAQ DADLALLQVF QLAAHLVYWG KAIIIYPLCE NNVYMLSPNA SVCLYSPLAE QFSHQFPSHD LPSVLAKFSL PVSLSEFRNP LAPAVQETQL IQMVVWMLQR RLLIQLHTYV CLMASPSEEE PRPREDDVPF TARVGGRSLS TPNALSFGSP TSSDDMTLTS PSMDNSSAEL LPSGDSPLNQ RMTENLLASL SEHERAAILS VPAAQNPEDL RMFARLLHYF RGRHHLEEIM YNENTRRSQL LMLFDKFRSV LVVTTHEDPV IAVFQALLP
Protein Length full length protein
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Background

Function
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.
Gene References into Functions
  1. This study demonstrated that mutation of NPRL3 in familial focal epilepsies and focal cortical dysplasia. PMID: 27173016
  2. NPRL3 mutations are significant cause of focal epilepsy. PMID: 26505888
  3. Mutations in NPRL3 are a novel cause of familial cortical dysplasia. PMID: 26285051
  4. NPRL3 is a candidate gene for harbouring mutations in individuals with developmental abnormalities of the cardiovascular system. PMID: 22538705
  5. NPRL3 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells. PMID: 21555518
  6. C16orf35 can modulate differentially the specific activities of selected p73 isoforms. PMID: 19666006

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Involvement in disease Epilepsy, familial focal, with variable foci 3 (FFEVF3)
Subcellular Location Lysosome membrane.
Protein Families NPR3 family
Tissue Specificity Widely expressed. Expressed in the frontal lobe cortex as well as in the temporal, parietal, and occipital lobes.
Database Links

HGNC: 14124

OMIM: 600928

KEGG: hsa:8131

STRING: 9606.ENSP00000382834

UniGene: Hs.19699

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