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Rabbit Anti-GPR143 Recombinant Antibody (EG1378) (CBMAB-EN1657-LY)


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Summary

Host Animal
Rabbit
Specificity
Human, Mouse
Clone
EG1378
Antibody Isotype
IgG
Application
IF: 1:100~1:500 ELISA: 1:10000

Basic Information

Immunogen
The antibody was produced against synthesized peptide derived from internal of human GPR143.
Specificity
Human, Mouse
Antibody Isotype
IgG
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Introduction
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y.
Entrez Gene ID
Human4935
Mouse18241
UniProt ID
HumanP51810
MouseP70259
Alternative Names
OA1; NYS6
Biological Process
Calcium-mediated signaling using intracellular calcium source Source: UniProtKB
Eye pigment biosynthetic process Source: ProtInc
G protein-coupled receptor signaling pathway Source: UniProtKB
Melanosome localization Source: UniProtKB
Melanosome organization Source: UniProtKB
Melanosome transport Source: UniProtKB
Phosphatidylinositol-mediated signaling Source: UniProtKB
Regulation of calcium-mediated signaling Source: UniProtKB
Signal transduction Source: ProtInc
Visual perception Source: ProtInc
Cellular Location
Apical cell membrane; Lysosome membrane; Melanosome membrane. Distributed throughout the endo-melanosomal system but most of endogenous protein is localized in unpigmented stage II melanosomes. Its expression on the apical cell membrane is sensitive to tyrosine (PubMed:18828673).
Involvement in disease
Albinism ocular 1 (OA1):
Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.
Nystagmus congenital X-linked 6 (NYS6):
A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.
Topology
Extracellular: 1-28
Helical: 29-49
Cytoplasmic: 50-78
Helical: 79-99
Extracellular: 100-124
Helical: 125-145
Cytoplasmic: 146-149
Helical: 150-170
Extracellular: 171-191
Helical: 192-212
Cytoplasmic: 213-248
Helical: 249-269
Extracellular: 270-292
Helical: 293-313
Cytoplasmic: 314-404
PTM
Glycosylated.
Phosphorylated.
More Infomation

Bueschbell, B., Manga, P., & Schiedel, A. C. (2022). The many faces of G protein-coupled receptor 143, an atypical intracellular receptor. Frontiers in Molecular Biosciences, 9.

Nakano, M., Koga, M., Hashimoto, T., Matsushita, N., Masukawa, D., Mizuno, Y., ... & Goshima, Y. (2022). Right ventricular overloading is attenuated in monocrotaline-induced pulmonary hypertension model rats with a disrupted Gpr143 gene, the gene that encodes the 3, 4-l-dihydroxyphenyalanine (l-DOPA) receptor. Journal of Pharmacological Sciences, 148(2), 214-220.

Bueschbell, B., Manga, P., Penner, E., & Schiedel, A. C. (2021). Evidence for protein–protein interaction between dopamine receptors and the G protein-coupled receptor 143. International Journal of Molecular Sciences, 22(15), 8328.

Mao, X., Chen, M., Yu, Y., Liu, Q., Yuan, S., & Fan, W. (2021). Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia. BMC ophthalmology, 21, 1-6.

Gao, X., Liu, T., Cheng, X., Dai, A., Liu, W., Li, R., & Zhang, M. (2020). A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. Molecular Medicine Reports, 21(1), 240-248.

Jiang, J., Yang, L., Li, H., Huang, L., & Li, N. (2019). Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations. Experimental Eye Research, 189, 107819.

Li, N. (2018). Analysis of GPR143 Gene Mutations in Five Chinese Families with the Ocular Albinism Type I. Investigative Ophthalmology & Visual Science, 59(9), 1030-1030.

Jung, J. H., Oh, E. H., Shin, J. H., Kim, H. S., Choi, S. Y., Choi, K. D., ... & Choi, J. H. (2018). Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. Journal of genetics, 97, 1479-1484.

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For research use only. Not intended for any clinical use.

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