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GPR143 G protein-coupled receptor 143 [ Homo sapiens (human) ]

Gene ID: 4935, updated on 7-Jun-2020

Summary

Official Symbol
GPR143provided by HGNC
Official Full Name
G protein-coupled receptor 143provided by HGNC
Primary source
HGNC:HGNC:20145
See related
Ensembl:ENSG00000101850 MIM:300808
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OA1; NYS6
Summary
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. [provided by RefSeq, Dec 2009]
Expression
Broad expression in skin (RPKM 3.2), placenta (RPKM 2.0) and 16 other tissues See more
Orthologs

Genomic context

See GPR143 in Genome Data Viewer
Location:
Xp22.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (9725346..9786260, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (9693453..9734005, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7028 Neighboring gene transducin beta like 1 X-linked Neighboring gene uncharacterized LOC105373126 Neighboring gene uncharacterized LOC107985658 Neighboring gene shroom family member 2 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Nystagmus 6, congenital, X-linked
MedGen: C3151752 OMIM: 300814 GeneReviews: Not available
Compare labs
Ocular albinism, type I
MedGen: C0342684 OMIM: 300500 GeneReviews: Ocular Albinism, X-Linked
Compare labs

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
L-DOPA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-DOPA binding IDA
Inferred from Direct Assay
more info
PubMed 
L-DOPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-DOPA receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
dopamine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dopamine binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tyrosine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tyrosine binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
G protein-coupled receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
calcium-mediated signaling using intracellular calcium source IDA
Inferred from Direct Assay
more info
PubMed 
eye pigment biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
melanosome localization IDA
Inferred from Direct Assay
more info
PubMed 
melanosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanosome transport IDA
Inferred from Direct Assay
more info
PubMed 
neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
regulation of calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of calcium-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
regulation of melanosome organization IEA
Inferred from Electronic Annotation
more info
 
regulation of melanosome transport IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IDA
Inferred from Direct Assay
more info
PubMed 
melanosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
G-protein coupled receptor 143
Names
ocular albinism 1
ocular albinism type 1 protein

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_009074.1 RefSeqGene

    Range
    5031..45532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000273.3NP_000264.2  G-protein coupled receptor 143

    See identical proteins and their annotated locations for NP_000264.2

    Status: REVIEWED

    Source sequence(s)
    AC003036, BU188283, Z48804
    Consensus CDS
    CCDS14134.2
    UniProtKB/Swiss-Prot
    P51810
    Related
    ENSP00000417161.1, ENST00000467482.6
    Conserved Domains (1) summary
    pfam02101
    Location:1396
    Ocular_alb; Ocular albinism type 1 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    9725346..9786260 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452387.1XP_024308155.1  G-protein coupled receptor 143 isoform X2

    Related
    ENSP00000390546.2, ENST00000447366.5
    Conserved Domains (1) summary
    pfam02101
    Location:1312
    Ocular_alb; Ocular albinism type 1 protein
  2. XM_024452388.1XP_024308156.1  G-protein coupled receptor 143 isoform X2

    Conserved Domains (1) summary
    pfam02101
    Location:1312
    Ocular_alb; Ocular albinism type 1 protein
  3. XM_005274541.3XP_005274598.1  G-protein coupled receptor 143 isoform X1

    Conserved Domains (1) summary
    pfam02101
    Location:1374
    Ocular_alb; Ocular albinism type 1 protein
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