Recombinant Human G-protein coupled receptor 98 (GPR98), partial

Code CSB-YP823904HU
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Source Yeast
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Code CSB-EP823904HU
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Source E.coli
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Code CSB-EP823904HU-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-BP823904HU
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Source Baculovirus
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Code CSB-MP823904HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
GPR98
Uniprot No.
Alternative Names
DKFZp761P0710; FEB 4; FEB4; G protein coupled receptor 98 ; G-protein coupled receptor 98; GPR 98; GPR98; GPR98_HUMAN; KIAA0686; MASS 1; Monogenic audiogenic seizure susceptibility 1 homolog ; Monogenic audiogenic seizure susceptibility protein 1 homolog; USH 2B; USH 2C; USH2B; USH2C; Usher syndrome 2C; Usher syndrome type 2C protein; Usher syndrome type-2C protein; Very large G protein coupled receptor ; Very large G protein coupled receptor 1; Very large G-protein coupled receptor 1; VLGR 1; VLGR 1b; VLGR1; VLGR1b
Species
Homo sapiens (Human)
Protein Length
Partial
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
G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. Involved in the regulation of bone metabolism.; Cleaved ADGRV1 beta-subunit couples with G-alpha(i)-proteins, GNAI1/2/3, and constitutively inhibits adenylate cyclase (AC) activity with a stronger effect than full ADGRV1.
Gene References into Functions
  1. Data suggest that the ADGRV1 variation contributes to epilepsy with myoclonic seizures, although the inheritance pattern may be complex in many cases. In patients with 5q14.3 deletion and epilepsy, ADGRV1 haploinsufficiency likely contributes to seizure development. PMID: 29266188
  2. we found new causative mutations in heterozygous compound state, one missense and one nonsense mutation in the GPR98 gene in three deaf sibs. The first mutation located in exon7, corresponds to c.1054C > A, which causes a proline to threonine change at position 352 of the protein (p.Pro352Thr). The second mutation located within exon77 is c.16544delT that leads to a stop codon at position 5515of the protein (p.Leu5515*). PMID: 28951997
  3. 7 patients clinically classified as having USH2, genetic tests confirmed the USH2 diagnosis in 5 cases. Of these, 4 patients showed mutations in the USH2A gene and 1 patient in the ADGRV1 gene. The mutation of the ADGRV1/GPR98 gene has an extremely rare incidence and is associated with a diagnosis of USH type 2C. PMID: 28653555
  4. We identified two novel truncation mutations in GPR98 causing Usher syndrome. PMID: 26432996
  5. our results suggest that low expression of VLGR1 is a significant risk factor of epileptic seizures in patients with low-grade glioma PMID: 25511798
  6. Our findings also expand the spectrum of GPR98 mutations in USH and demonstrate that the long isoform of GPR98 might carry even more mutations of the GPR98 gene. PMID: 25572244
  7. Diagnosis of Usher Syndrome 2 caused by GPR98 mutations in advance of visual defects in the cohort of nonsyndromic HL patients highlights importane of genetic testing in the diagnosis. PMID: 25743181
  8. identified an independent Galphai signaling pathway of the VLGR1 beta-subunit and its regulatory mechanisms that may have a role in the development of Usher syndrome PMID: 24962568
  9. In Spain, USH2A and GPR98 are responsible for 95.8% and 5.2% of Usher syndrome 2 mutated cases, respectively. DFNB31 plays a minor role in the Spanish population. There was a group of patients in whom no mutation was found. PMID: 23441107
  10. genetic association studies in postmenopausal Japanese women: Study found association between an SNP in GPR98 (rs10514346) and bone mineral density in this population; data suggest that Gpr98 signaling pathway regulates bone metabolism. PMID: 22419726
  11. Mutation found in USH2A, GPR98, or DFNB31 account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis. PMID: 22147658
  12. A nonsense mutation (S2652X) causing a deletion of the C-terminal 126 amino acid residues was identified in one family with febrile and afebrile seizures. PMID: 12402266
  13. USH2C and USH2A manifest photoreceptor disease with rod- and cone-mediated visual losses and thinning of the outer nuclear layer. PMID: 15671307
  14. GPR98 genes and the phenotypic heterogeneity and particularly the severe ocular affection first observed in one Usher syndrome patient. PMID: 18854872
  15. study describes for the first time two male patients with Usher syndrome type 2 with novel GPR98 mutations PMID: 19357117
  16. has seven copies of the EPTP repeat, a unifying protein sequence motif of a heterogenous group of proteins linked to epileptic diseases. The EPTP repeat probably forms a beta-propeller structure. PMID: 12217514

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Involvement in disease
Usher syndrome 2C (USH2C); Febrile seizures, familial, 4 (FEB4)
Subcellular Location
Cell membrane; Multi-pass membrane protein. Cell projection, stereocilium membrane. Photoreceptor inner segment.
Protein Families
G-protein coupled receptor 2 family, LN-TM7 subfamily
Tissue Specificity
Expressed at low levels in adult tissues.
Database Links

HGNC: 17416

OMIM: 602851

KEGG: hsa:84059

STRING: 9606.ENSP00000384582

UniGene: Hs.591777

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