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FLASH GENE

Symbol

GPR143

contributors: mct/npt/pgu - updated : 28-05-2010

HGNC name	G protein-coupled receptor 143
HGNC id	20145

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Skin/Tegument skin         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven transmembrane segments (7TM)
	a long cytoplasmic tail
	multiple unconventional signals responsible for its lysosomal and melanosomal localization (

conjugated

GlycoP , ubiquitinated

HOMOLOGY

interspecies	ortholog to Gpr143, Mus musculus
	ortholog to Gpr143, Rattus norvegicus
	ortholog to gpr143, Danio rerio
	ortholog to GPR143, Pan troglodytes

Homologene

FAMILY

G protein-coupled receptor superfamily

CATEGORY

receptor membrane G

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,lysosome
text	targeted to the membrane of the intracellular melanosomes
	localizes intracellularly to melanosomes to regulate their biogenesis

basic FUNCTION	playing a role in the eye pigment biosynthesis
	involved in the regulation of melanosome maturation at two steps, controls the abundance of melanosomes in RPE cells and at later stages has a function in the maintenance of a correct melanosomal size
	implicated in organelle biogenesis
	a selective L-DOPA receptor
	key player in the biogenesis of melanosomes
	pigment cell-specific glycoprotein with structural and functional features of GPCRs
	functions together with MLANA to maintain melanosome composition and identity within the endocytic system
	a key player in the biogenesis of melanosomes
	functions early in melanosome biogenesis controlling not only melanosome size but also melanosome composition, and thereby appropriate maturation
	melanosome-associated G-protein-coupled receptor involved in melanosome biogenesis during melanocyte differentiation
	its expression rescues melanosome biogenesis, activates MITF expression and thereby coordinates melanosome size and number, providing a quality control mechanism for the organelle in which resides

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

photoreception

a component

constituent of pigment cell integral membrane protein

INTERACTION

DNA

RNA

small molecule

protein	a target of MITF
	interacts biochemically with the premelanosomal protein MLANA
	selective L-DOPA receptor whose downstream effects govern spatial patterning of the developing retina
	interacts with arrestins and binds heterotrimeric G proteins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OA1 , DELXPM , NYS6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   melanoma constitutional       loss of function leading to the formation of macromelanosomes constitutional       loss of function reduces both the basal expression and cAMP-dependent induction of the microphthalmia-associated transcription factor (MITF), the master regulator of melanocyte differentiation, leading to a significant reduction in expression of PMEL, a major melanosomal structural protein

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Oa1-deficient mice display hypopigmentation of the ocular fundus with a reduction in the size of the uncrossed pathway demonstrating a misrouting of the optic fibres at the chiasm (
	Oa1-knock-out mice have abnormality in melanosome distribution both in retinal pigment epithelium and skin melanocytes