Recombinant Human Neural retina-specific leucine zipper protein (NRL)

Code CSB-YP016086HU
MSDS
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Source Yeast
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Code CSB-EP016086HU-B
MSDS
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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-BP016086HU
MSDS
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Source Baculovirus
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Code CSB-MP016086HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
NRL
Uniprot No.
Alternative Names
D14S46E; Neural retina-specific leucine zipper protein; Neural retinal specific leucine zipper; NRL; NRL MAF; NRL_HUMAN; RP27
Species
Homo sapiens (Human)
Expression Region
1-237
Target Protein Sequence
MALPPSPLAM EYVNDFDLMK FEVKREPSEG RPGPPTASLG STPYSSVPPS PTFSEPGMVG ATEGTRPGLE ELYWLATLQQ QLGAGEALGL SPEEAMELLQ GQGPVPVDGP HGYYPGSPEE TGAQHVQLAE RFSDAALVSM SVRELNRQLR GCGRDEALRL KQRRRTLKNR GYAQACRSKR LQQRRGLEAE RARLAAQLDA LRAEVARLAR ERDLYKARCD RLTSSGPGSG DPSHLFL
Protein Length
Full length protein
Tag Info
Tag type will be determined during the manufacturing process.
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
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
Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B. Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3. Binds in a sequence-specific manner to the rhodopsin promoter.
Gene References into Functions
  1. that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup PMID: 29533784
  2. We identified a novel NRL mutation (c.147_149del, p.Ser50del) leading to adRP in a Chinese family with retinitis pigmenntosa. PMID: 28106895
  3. investigated the prevalence of the NRL mutation among Bukhara Jews with oculopharyngeal muscular dystrophy (OPMD) PMID: 28590779
  4. This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype. PMID: 27732723
  5. The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family. PMID: 27081294
  6. In another family a variant, p.M96T in the NRL gene was detected as a retinitis pigmentosa-causing mutation. PMID: 23534816
  7. This novel p.M96T mutant activated the RHO promoter more intensely than did wild-type NRL in a family with autosomal dominant retinitis pigmentosa. PMID: 21981118
  8. Studies suggest an important role of sumoylation in fine-tuning the activity of NRL and thereby incorporating yet another layer of control in gene regulatory networks involved in photoreceptor development and homeostasis. PMID: 20551322
  9. In this study, NR2E3 mutations were found to be responsible for approximately 2.9% of overall retinitis pigmentosa (RP) in Chinese patients, NRL was not associated with RP. PMID: 19933183
  10. The disease caused by NRL mutations found in this study appears to be more severe PMID: 11879142
  11. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. PMID: 12552256
  12. the function of NRL is modulated by its interaction with specific repressor proteins, related to cross-talk between signaling pathways in the retina PMID: 12566383
  13. The NRL Ser50Thr mutation is associated with selective loss of scotopic function before age 20 years. With time, however, the photopic system becomes affected, leading to loss of the photopic visual field and of visual acuity. PMID: 12796249
  14. both Nrl and Crx are required for full transcriptional activity of the PDE6A gene PMID: 15001570
  15. the function of NRL-MTD is to activate transcription by recruiting or stabilizing TBP (and consequently other components of the general transcription complex) at the promoter of target genes PMID: 15328344
  16. Mutation analysis of the NRL gene, in patients with Enhanced S Cone Syndrome PMID: 15459973
  17. an unusual clinical phenotype in humans with loss-of-function mutations in NRL PMID: 15591106
  18. signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination PMID: 16854989
  19. Gain-of-function mutations in the NRL gene cause autosomal dominant retinitis pigmentosa[RP] while loss-of-function mutations cause autosomal recessive RP. Differential phosphorylation of NRL fine-tunes its transcriptional regulatory activity. PMID: 17335001
  20. six isoforms of NRL (29-35 kDa) are generated by phosphorylation and expressed specifically in the mammalian retina. PMID: 11477108

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Involvement in disease
Retinitis pigmentosa 27 (RP27); Retinal degeneration autosomal recessive clumped pigment type (RDCP)
Subcellular Location
Cytoplasm. Nucleus.
Protein Families
BZIP family
Tissue Specificity
Expressed in the brain and the retina. Expressed strongly in rod and cone cells (at protein level).
Database Links

HGNC: 8002

OMIM: 162080

KEGG: hsa:4901

STRING: 9606.ENSP00000380193

UniGene: Hs.652297

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