Recombinant Human Guanine nucleotide-binding protein G(t) subunit alpha-1(GNAT1)

Code CSB-YP009598HU
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Source Yeast
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Code CSB-EP009598HU
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Source E.coli
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Code CSB-EP009598HU-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-BP009598HU
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Source Baculovirus
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Code CSB-MP009598HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names GNAT1
Uniprot No. P11488
Alternative Names CSNBAD3; GBT1; GNAT1; GNAT1_HUMAN; GNATR; guanine nucleotide binding protein (G protein) alpha transducing activity polypeptide 1; guanine nucleotide binding protein G(T) alpha 1 subunit ; Guanine nucleotide-binding protein G(t) subunit alpha-1; Rod specific transducin; rod-type transducin alpha subunit; Transducin alpha-1 chain; transducin; rod-specific
Species Homo sapiens (Human)
Expression Region 2-350
Target Protein Sequence GAGASAEEK HSRELEKKLK EDAEKDARTV KLLLLGAGES GKSTIVKQMK IIHQDGYSLE ECLEFIAIIY GNTLQSILAI VRAMTTLNIQ YGDSARQDDA RKLMHMADTI EEGTMPKEMS DIIQRLWKDS GIQACFERAS EYQLNDSAGY YLSDLERLVT PGYVPTEQDV LRSRVKTTGI IETQFSFKDL NFRMFDVGGQ RSERKKWIHC FEGVTCIIFI AALSAYDMVL VEDDEVNRMH ESLHLFNSIC NHRYFATTSI VLFLNKKDVF FEKIKKAHLS ICFPDYDGPN TYEDAGNYIK VQFLELNMRR DVKEIYSHMT CATDTQNVKF VFDAVTDIII KENLKDCGLF
Protein Length Full Length of Mature 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
Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina. Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, such as cGMP-phosphodiesterase.
Gene References into Functions
  1. Our family's ERG showed essentially no rod response, consistent with a Danish GNAT1 pedigree but different from the Nougaret GNAT1 pedigree that shows partial preservation of rod signal. A genetic connection between Complete congenital stationary night blindness and postural orthostatic tachycardia syndrome would be intriguing, but we found no evidence for this. PMID: 30051303
  2. These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously. PMID: 26472407
  3. Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma. PMID: 23292452
  4. These data suggest that a homozygous missense mutation in GNAT1 is associated with autosomal recessive stationary night blindness. PMID: 22190596
  5. Expression of GNAT1 gene is down-regulated or absent in nasopharyngeal carcinoma tissues. PMID: 17222360

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Involvement in disease Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3); Night blindness, congenital stationary, 1G (CSNB1G)
Subcellular Location Cell projection, cilium, photoreceptor outer segment. Membrane; Peripheral membrane protein. Photoreceptor inner segment.
Protein Families G-alpha family, G(i/o/t/z) subfamily
Tissue Specificity Rod photoreceptor cells. Predominantly expressed in the retina followed by the ciliary body, iris and retinal pigment epithelium.
Database Links

HGNC: 4393

OMIM: 139330

KEGG: hsa:2779

STRING: 9606.ENSP00000232461

UniGene: Hs.517978

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