Gpr143 G protein-coupled receptor 143 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gpr143provided by MGI
Official Full Name: G protein-coupled receptor 143provided by MGI
Primary source: MGI:MGI:107193
See related: Ensembl:ENSMUSG00000025333 AllianceGenome:MGI:107193
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Oa1
Summary: Predicted to enable L-DOPA receptor activity; carboxylic acid binding activity; and dopamine binding activity. Involved in regulation of melanosome organization and regulation of melanosome transport. Predicted to be located in several cellular components, including apical plasma membrane; lysosomal membrane; and melanosome. Predicted to be active in melanosome membrane and plasma membrane. Is expressed in several structures, including eye; hair follicle; and inner ear. Used to study ocular albinism 1. Human ortholog(s) of this gene implicated in congenital nystagmus 6 and ocular albinism 1. Orthologous to human GPR143 (G protein-coupled receptor 143). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: X F3; X 68.46 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (151564917..151591647)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (152781921..152808651)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

OA1 expression in both neuronal and non-neuronal tissues was examined by immunohistochemical analyses, results suggested that OA1 may modulate the monoaminergic functions in both peripheral and central nervous systems
Title: Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs.
Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression.
Title: Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression.
These results identify the Oa1 transducer Galphai3 as the first downstream component in the Oa1 signaling pathway.
Title: Specific interaction of Gαi3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium.
OA1 interacts with MART-1 at early stages of melanogenesis to control melanosome identity and composition.
Title: The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.
data point to defective regulation of organelle transport in pigment cells in absence of OA1; results enlighten novel function for OA1 in pigment cells & suggest ocular albinism type 1 may result from a different mechanism than previously thought
Title: The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.
G alpha i3, like Oa1, plays important role in melanosome biogenesis. Common Oa1-G alpha i3 signaling pathway may ultimately affect axonal growth through optic chiasm.
Title: Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation.
the ocular albinism type 1 gene expression is controlled by microphthalmia transcription factor (Mitf)
Title: The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.
Asparagine at amino acid 106 is essential for N-glycosylation of the Oa1 protein. Mutation at amino acid 106 that eliminated glycosylation did not affect the endo/lysosomal distribution of Oa1 protein in cells.
Title: The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution.
The findings indicate that Oa1 is involved in the regulation of melanosome maturation at two steps, Oa1 controls the abundance of melanosomes in RPE cells and has a function in the maintenance of a correct melanosomal size.
Title: The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (4) 1 citation

General gene information

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Markers

DXMit218 (e-PCR), detects polymorphism
- UniSTS:132107

NoName (e-PCR)
- UniSTS:491348

Gpr143 (e-PCR), detects polymorphism
- UniSTS:519405

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	ISO Inferred from Sequence Orthology more info
enables G protein-coupled receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables L-DOPA binding	IBA Inferred from Biological aspect of Ancestor more info
enables L-DOPA binding	ISO Inferred from Sequence Orthology more info
enables L-DOPA binding	ISS Inferred from Sequence or Structural Similarity more info
enables L-DOPA receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-DOPA receptor activity	ISO Inferred from Sequence Orthology more info
enables L-DOPA receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables L-tyrosine binding	IBA Inferred from Biological aspect of Ancestor more info
enables L-tyrosine binding	ISO Inferred from Sequence Orthology more info
enables L-tyrosine binding	ISS Inferred from Sequence or Structural Similarity more info
enables dopamine binding	IBA Inferred from Biological aspect of Ancestor more info
enables dopamine binding	ISO Inferred from Sequence Orthology more info
enables dopamine binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanosome localization	ISO Inferred from Sequence Orthology more info
involved_in melanosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome organization	ISO Inferred from Sequence Orthology more info
involved_in melanosome organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanosome transport	IEA Inferred from Electronic Annotation more info
involved_in melanosome transport	ISO Inferred from Sequence Orthology more info
involved_in neuropeptide signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of melanosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in melanosome	ISO Inferred from Sequence Orthology more info
located_in melanosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in melanosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome membrane	ISO Inferred from Sequence Orthology more info
located_in melanosome membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: G-protein coupled receptor 143

Names: MOA1; homolog of human ocular albinism 1 (Nettleship-Falls); ocular albinism type 1 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010951.3 → NP_035081.3 G-protein coupled receptor 143

See identical proteins and their annotated locations for NP_035081.3

Status: VALIDATED

Source sequence(s)

BB762363, BC119384, CJ131873

Consensus CDS

CCDS30476.1

UniProtKB/Swiss-Prot

O89031, P70259

UniProtKB/TrEMBL

Q549B6

Related

ENSMUSP00000026383.4, ENSMUST00000026383.4

Conserved Domains (1) summary

pfam02101
Location:1 → 397

Ocular_alb; Ocular albinism type 1 protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

151564917..151591647

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006528746.1 → XP_006528809.1 G-protein coupled receptor 143 isoform X1

Conserved Domains (1) summary

pfam02101
Location:1 → 238

Ocular_alb; Ocular albinism type 1 protein