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Rabbit Anti-OA1/FITC Conjugated antibody
background:
G protein-coupled receptors (GPRs or GPCRs), are members of the largest protein family and play a role in many different stimulus-response pathways. G-protein coupled receptors mediate extracellular signals into intracellular signals (G-protein activation). They respond to a great variety of signaling molecules, including hormones, neurotransmitters and other proteins and peptides. GPR143, also designated ocular albinism type 1 protein (OA1), is detected exclusively in pigment cells. OA1, which is a multi-pass membrane protein, is a melanosomal protein expressed primarily in pigment cells. Defects in the gene encoding for OA1 cause ocular albinism, an X-linked disorder mainly characterized by retinal hypopigmentation and visual impairment.
Function:
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.
Subunit:
Interacts with heterotrimeric G(i) proteins. Interacts with ARRB1 and ARRB2. Interacts with MLANA.
Subcellular Location:
Golgi apparatus. Melanosome membrane. Lysosome membrane. Apical cell 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.
Tissue Specificity:
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.
Post-translational modifications:
Glycosylated.
Phosphorylated.
DISEASE:
Defects in GPR143 are the cause of albinism ocular type 1 (OA1) [MIM:300500]; also known as Nettleship-Falls type ocular albinism. 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.
Defects in GPR143 are the cause of Nystagmus congenital X-linked type 6 (NYS6) [MIM:300814]. It is 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.
Similarity:
Belongs to the G-protein coupled receptor OA family.
Database links:
Entrez Gene: 4935 Human
Entrez Gene: 18241 Mouse
Entrez Gene: 302619 Rat
Omim: 300500 Human
SwissProt: P51810 Human
SwissProt: P70259 Mouse
Unigene: 74124 Human
Unigene: 5157 Mouse
Unigene: 141649 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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