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

Gene ID: 4935, updated on 11-Sep-2014
Official Symbol
GPR143provided by HGNC
Official Full Name
G protein-coupled receptor 143provided by HGNC
Primary source
HGNC:HGNC:20145
See related
Ensembl:ENSG00000101850; HPRD:02355; MIM:300808; Vega:OTTHUMG00000021118
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]
See GPR143 in Epigenomics, MapViewer
Location:
Xp22.3
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (9725413..9765965, 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 chromodomain Y-like protein pseudogene Neighboring gene transducin (beta)-like 1X-linked Neighboring gene eukaryotic translation initiation factor 5 pseudogene Neighboring gene shroom family member 2 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 33

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • GPCRs, Other, organism-specific biosystem (from WikiPathways)
    GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
Products Interactant Other Gene Complex Source Pubs Description

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 IDA
Inferred from Direct Assay
more info
PubMed 
L-DOPA receptor activity IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
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 
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 localization ISS
Inferred from Sequence or Structural Similarity
more info
 
melanosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanosome transport IDA
Inferred from Direct Assay
more info
PubMed 
neuropeptide signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
regulation of calcium-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
G-protein coupled receptor 143
Names
G-protein coupled receptor 143
ocular albinism 1
ocular albinism type 1 protein

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 

    Range
    4913..45465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_000264.2

    Status: REVIEWED

    Source sequence(s)
    BC068977, BU188283, Z48804
    Consensus CDS
    CCDS14134.2
    UniProtKB/Swiss-Prot
    P51810
    Related
    ENSP00000417161, OTTHUMP00000022884, ENST00000467482, OTTHUMT00000055714
    Conserved Domains (1) summary
    pfam02101
    Location:1404
    Ocular_alb; Ocular albinism type 1 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    9725413..9765965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274541.1XP_005274598.1  

    Conserved Domains (1) summary
    pfam02101
    Location:1374
    Ocular_alb; Ocular albinism type 1 protein
  2. XM_005274542.2XP_005274599.1  

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

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    7525733..7566160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    9723929..9764313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)