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GPR143 Antibody

  • 货号：
    CSB-PA020179
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    P51810
  • 基因名：
    GPR143
  • 别名：
    GPR143; OA1; G-protein coupled receptor 143; Ocular albinism type 1 protein
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human GPR143.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    IF, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    IF 1:200-1:1000
    ELISA 1:10000
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport.
  • 基因功能参考文献：
    1. Three novel mutations, c.333_360+14del42insCTT, c.276G>A (p.W92X), and c.793C>T (p.R265X), were identified in GPR143 by PCR followed by Sanger sequencing in members of families with X-linked ocular albinism. PMID: 28211458
    2. The findings of the present study expanded the gene mutation spectrum of GPR143 and investigated the clinical phenotype of patients with OA1 in the Chinese population. PMID: 28339057
    3. c.758T>A mutation in exon 6 of the GPR143 gene is associated with X-linked ocular albinism. PMID: 28397224
    4. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN. PMID: 27958203
    5. tyrosinase as a potential GPR143 binding protein opens new avenues for investigating the mechanisms that regulate pigmentation and neurogenesis. PMID: 27720922
    6. X-linked ocular albinism type I, characterized by developmental eye defects, results from GPR143 mutations PMID: 28632878
    7. This family was found to harbor a novel, likely pathogenic mutation in GPR143 resulting in a combined Stargart disease and heterozygous carrier phenotype in the affected sisters . PMID: 27367509
    8. Here, we report a Chinese trio-family with the son who was affected by the X-linked ocular albinism in which a novel missense mutation in the GPR143 was observed. PMID: 26547501
    9. Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and underwent molecular genetic analysis. We first performed PCR-based DNA sequencing of the entire coding region and the splice junctions of the FRMD7 and GPR143 genes in participants. PMID: 27036142
    10. Downstream signaling from GPR143 controls RPE secretion of pigment epithelium-derived factor (PEDF), a potent neurotrophic and antiangiogenic factor. PMID: 26741053
    11. Five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A,two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC. PMID: 26160353
    12. intronic mutation that creates a cryptic splice-donor site in GPR143 of patients with ocular albinism PMID: 26061757
    13. The GPR143 gene analysis identified an identical point mutation in two Ocular albinism 1 patients and their mothers . PMID: 24526317
    14. Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression. PMID: 24650003
    15. OA1 is involved in melanoma cell migration and that OA1induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. PMID: 24736838
    16. a novel splicing site mutation of the GPR143 gene was found in a Han Chinese congenital ocular albinism pedigree. PMID: 24301936
    17. Data report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism. PMID: 22916221
    18. Four patients with X-linked ocular albinism type 1 were identified from a cohort of 15 boys with clinical signs of albinism using mutation detection methods. PMID: 22486324
    19. These results identify the Oa1 transducer Galphai3 as the first downstream component in the Oa1 signaling pathway. PMID: 21931697
    20. The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. PMID: 21730137
    21. TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. Nevertheless, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R. PMID: 21541274
    22. A novel causative mutation of GPR143 was identified in a five-generation Chinese family with X-linked ocular albinism. PMID: 21423867
    23. TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation. PMID: 20861488
    24. This is the first report of a Japanese X-linked ocular albinism (XLOA) patient with a GPR143 mutation. PMID: 21348135
    25. L-DOPA activates GPR143 signaling through a Gq pathway, while dopamine inhibits the receptor. PMID: 18828673
    26. we describe the first Spanish family known to present with X linked ocular albinism due to mutations in the OA1 gene PMID: 20649618
    27. OA1 interacts with MART-1 at early stages of melanogenesis to control melanosome identity and composition. PMID: 19717472
    28. Review: mutational analysis in ocular albinism type 1 PMID: 11793467
    29. OA1 has been immunologically characterized as an antigen that is expressed, processed, and presented in an MHC-restricted fashion by melanoma cells, but for which there is the human equivalent of a "knockout"--i.e., complete deletion in a male patient. PMID: 12538723
    30. Mutations in the OA1 gene is associated with ocular albinism PMID: 12868035
    31. Mutational analysis of the OA1 ocular albinism gene. PMID: 16646960
    32. No correlation was identified between congenital nystagmus and ocular albinism 1(OA1) gene. PMID: 16754205
    33. Our results indicate that a mutation in the GPR143 gene can cause a variant form of ocular albinism, with congenital nystagmus as the most prominent and only consistent finding in all patients in this Chinese family. PMID: 17516023
    34. eight new mutations located in the coding region of the gene are identified. PMID: 17822861
    35. Two novel mutations in OA1 gene were identified in two families with ocular albinism. Identified mutations are likely loss-of-function mutations. Mutations in OA1 gene are associated with majority of X-linked ocular albinism cases. PMID: 17960122
    36. These results indicate that this novel GPR143 mutation is associated with the congenital nystagmus observed in this Chinese family. PMID: 18523664
    37. Panretinal function in OA1 is within normal limits at all ages, consistent with previous reports in generalized albinism. PMID: 18798082
    38. Results illustrate an autocrine loop between OA1 and tyrosinase linked through L-DOPA, and this loop includes the secretion of at least one very potent retinal neurotrophic factor. PMID: 18828673
    39. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of OA1 among the Chinese. PMID: 18978956
    40. The novel mutation p.G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon. PMID: 19123159
    41. Results suggest that this novel mutation in GPR143 is associated with the congenital nystagmus observed in this Chinese family. PMID: 19390656
    42. Our results confirm that GPR143 is the major locus for X_linked ocular albinism and that exon 2 is a region of high susceptibility to deletions. PMID: 19604113
    43. A Chinese family with X-linked ocular albinism and partial deletion of GPR143, is reported. PMID: 19610097

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  • 相关疾病：
    Albinism ocular 1 (OA1); Nystagmus congenital X-linked 6 (NYS6)
  • 亚细胞定位：
    Melanosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    G-protein coupled receptor OA family
  • 组织特异性：
    Expressed at high levels in the retina, including the retinal pigment epithelium (RPE), and in melanocytes. Weak expression is observed in brain and adrenal gland.
  • 数据库链接：

    HGNC: 20145

    OMIM: 300500

    KEGG: hsa:4935

    STRING: 9606.ENSP00000417161

    UniGene: Hs.74124