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

Gene ID: 4935, updated on 2-May-2024

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; AllianceGenome:HGNC:20145
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
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Genomic context

See GPR143 in Genome Data Viewer
Location:
Xp22.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (9725346..9778602, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (9307982..9361208, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (9693386..9733887, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985634 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:9382495-9382700 Neighboring gene chromodomain Y like protein pseudogene Neighboring gene MPRA-validated peak7356 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chrX:9420158-9420316 Neighboring gene Sharpr-MPRA regulatory region 2097 Neighboring gene Sharpr-MPRA regulatory region 7028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9431698-9432526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9471641-9472141 Neighboring gene transducin beta like 1 X-linked Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9490972-9491496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29402 Neighboring gene Sharpr-MPRA regulatory region 11092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9500568-9501137 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9528031-9528532 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9528533-9529032 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9536306-9537137 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9537138-9537968 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:9554716-9555236 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:9555237-9555756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9561459-9561960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9561961-9562460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9603687-9604186 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:9629664-9630863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9650484-9650984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9675799-9676456 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:9676457-9677113 Neighboring gene uncharacterized LOC105373126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9732793-9733294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9761068-9761591 Neighboring gene shroom family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9793532-9794054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9800056-9800700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9800701-9801344 Neighboring gene Sharpr-MPRA regulatory region 9039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:9811123-9812117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9824841-9825341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9827950-9828450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9828451-9828951 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:9833462-9834428 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 33

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 Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables L-DOPA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables L-DOPA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables L-DOPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables L-DOPA receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables L-tyrosine binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables L-tyrosine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables dopamine binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables dopamine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in melanosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in melanosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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.

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, Q6NTI7
    Related
    ENSP00000417161.1, ENST00000467482.6
    Conserved Domains (1) summary
    pfam02101
    Location:1396
    Ocular_alb; Ocular albinism type 1 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    9725346..9778602 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452388.2XP_024308156.1  G-protein coupled receptor 143 isoform X2

    UniProtKB/TrEMBL
    H7BZN6
    Related
    ENSP00000390546.2, ENST00000447366.5
    Conserved Domains (1) summary
    pfam02101
    Location:1312
    Ocular_alb; Ocular albinism type 1 protein
  2. XM_005274541.4XP_005274598.1  G-protein coupled receptor 143 isoform X1

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    9307982..9361208 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327138.1XP_054183113.1  G-protein coupled receptor 143 isoform X2

  2. XM_054327137.1XP_054183112.1  G-protein coupled receptor 143 isoform X1