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Aliases for GPR143 Gene

Aliases for GPR143 Gene

  • G Protein-Coupled Receptor 143 2 3 5
  • Ocular Albinism Type 1 Protein 3 4
  • Ocular Albinism 1 2 3
  • OA1 3 4
  • Ocular Albinism 1 (Nettleship-Falls) 2
  • G-Protein Coupled Receptor 143 3
  • NYS6 3

External Ids for GPR143 Gene

Previous HGNC Symbols for GPR143 Gene

  • OA1

Previous GeneCards Identifiers for GPR143 Gene

  • GC0XM009104
  • GC0XM009503
  • GC0XM009654
  • GC0XM007525

Summaries for GPR143 Gene

Entrez Gene Summary for GPR143 Gene

  • 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]

GeneCards Summary for GPR143 Gene

GPR143 (G Protein-Coupled Receptor 143) is a Protein Coding gene. Diseases associated with GPR143 include Ocular Albinism, Type I, Nettleship-Falls Type and Nystagmus 6, Congenital, X-Linked. Among its related pathways are Monoamine GPCRs and GPCRs, Other. GO annotations related to this gene include G-protein coupled receptor activity and tyrosine binding.

UniProtKB/Swiss-Prot for GPR143 Gene

  • Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport.

Gene Wiki entry for GPR143 Gene

Additional gene information for GPR143 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPR143 Gene

Genomics for GPR143 Gene

Regulatory Elements for GPR143 Gene

Enhancers for GPR143 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH009844 0.9 Ensembl ENCODE 13.4 -60.3 -60298 3 SOX13 SAP130 CEBPB CEBPG EP300 TEAD3 JUND CEBPA FOS SMAD4 SHROOM2 GPR143 HMGN1P33 EIF5P1
GH0XH009829 0.8 ENCODE 13.8 -43.6 -43591 1 JUN BACH1 BMI1 RAD21 BATF RELA EED FOSL2 FOS ATF7 SHROOM2 GPR143 EIF5P1 HMGN1P33
GH0XH009824 0.4 ENCODE 13.9 -38.8 -38796 0 ZNF7 GPR143 SHROOM2 EIF5P1 HMGN1P33
GH0XH009788 1 Ensembl ENCODE 5.5 -3.4 -3389 2 SOX13 FOXA2 SAP130 MAX CEBPG RAD21 YY1 CTBP1 GATA3 MAFK SHROOM2 GPR143 PIR43176
GH0XH009818 0.3 FANTOM5 13.9 -32.5 -32473 0 GPR143 SHROOM2 EIF5P1 PIR62345
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GPR143 on UCSC Golden Path with GeneCards custom track

Promoters for GPR143 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000244230 -303 2000 E2F1 POLR2A SIN3A KLF9 EZH2

Genomic Location for GPR143 Gene

Chromosome:
X
Start:
9,725,346 bp from pter
End:
9,786,297 bp from pter
Size:
60,952 bases
Orientation:
Minus strand

Genomic View for GPR143 Gene

Genes around GPR143 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPR143 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPR143 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPR143 Gene

Proteins for GPR143 Gene

  • Protein details for GPR143 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51810-GP143_HUMAN
    Recommended name:
    G-protein coupled receptor 143
    Protein Accession:
    P51810
    Secondary Accessions:
    • Q6NTI7

    Protein attributes for GPR143 Gene

    Size:
    404 amino acids
    Molecular mass:
    43878 Da
    Quaternary structure:
    • Interacts with heterotrimeric G(i) proteins. Interacts with ARRB1 and ARRB2. Interacts with MLANA.
    SequenceCaution:
    • Sequence=AAH68977.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA88742.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW98773.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for GPR143 Gene

Post-translational modifications for GPR143 Gene

Other Protein References for GPR143 Gene

No data available for DME Specific Peptides for GPR143 Gene

Domains & Families for GPR143 Gene

Gene Families for GPR143 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for GPR143 Gene

Suggested Antigen Peptide Sequences for GPR143 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51810

UniProtKB/Swiss-Prot:

GP143_HUMAN :
  • The cytoplasmic domain 3 and the C-terminus tail domain contain the lysosomal sorting signals and are necessary and sufficient for intracellular retention and delivery to lysosomal and melanosomal, respectively in melanocytic and non-melanocytic cells.
  • Belongs to the G-protein coupled receptor OA family.
Domain:
  • The cytoplasmic domain 3 and the C-terminus tail domain contain the lysosomal sorting signals and are necessary and sufficient for intracellular retention and delivery to lysosomal and melanosomal, respectively in melanocytic and non-melanocytic cells.
Family:
  • Belongs to the G-protein coupled receptor OA family.
genes like me logo Genes that share domains with GPR143: view

Function for GPR143 Gene

Molecular function for GPR143 Gene

UniProtKB/Swiss-Prot Function:
Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport.

Phenotypes From GWAS Catalog for GPR143 Gene

Gene Ontology (GO) - Molecular Function for GPR143 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IDA,IEA 16524428
GO:0005515 protein binding IPI 16524428
GO:0035240 dopamine binding IDA,IEA 18828673
GO:0035643 L-DOPA receptor activity IDA 18828673
GO:0072544 L-DOPA binding IEA,IDA 18828673
genes like me logo Genes that share ontologies with GPR143: view
genes like me logo Genes that share phenotypes with GPR143: view

Human Phenotype Ontology for GPR143 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPR143 Gene

MGI Knock Outs for GPR143:

Animal Model Products

  • Taconic Biosciences Mouse Models for GPR143

CRISPR Products

miRNA for GPR143 Gene

miRTarBase miRNAs that target GPR143

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GPR143
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPR143 Gene

Localization for GPR143 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPR143 Gene

Melanosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Note=Distributed throughout the endo-melanosomal system but most of endogenous protein is localized in unpigmented stage II melanosomes. Its expression on the apical cell membrane is sensitive to tyrosine (PubMed:18828673). {ECO:0000269 PubMed:18828673}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPR143 gene
Compartment Confidence
plasma membrane 5
lysosome 5
golgi apparatus 5
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for GPR143 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10471510
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 16621890
GO:0005794 Golgi apparatus IDA 19717472
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with GPR143: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPR143 Gene

Pathways & Interactions for GPR143 Gene

genes like me logo Genes that share pathways with GPR143: view

Pathways by source for GPR143 Gene

Interacting Proteins for GPR143 Gene

Gene Ontology (GO) - Biological Process for GPR143 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006726 eye pigment biosynthetic process TAS 7647783
GO:0007165 signal transduction TAS 10471510
GO:0007186 G-protein coupled receptor signaling pathway IMP,IEA 18828673
GO:0007218 neuropeptide signaling pathway IEA --
GO:0007601 visual perception TAS 7647783
genes like me logo Genes that share ontologies with GPR143: view

No data available for SIGNOR curated interactions for GPR143 Gene

Drugs & Compounds for GPR143 Gene

(11) Drugs for GPR143 Gene - From: ClinicalTrials, DGIdb, and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Levodopa Approved Pharma Agonist, agonist 406
Carbidopa Approved Pharma Inhibition, Inhibitor 188
Dopamine Approved Pharma Full agonist, Agonist 3926
Adjuvants, Immunologic Pharma 2640
Antiparkinson Agents Pharma 1609
genes like me logo Genes that share compounds with GPR143: view

Transcripts for GPR143 Gene

Unigene Clusters for GPR143 Gene

G protein-coupled receptor 143:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GPR143
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GPR143 Gene

No ASD Table

Relevant External Links for GPR143 Gene

GeneLoc Exon Structure for
GPR143
ECgene alternative splicing isoforms for
GPR143

Expression for GPR143 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPR143 Gene

mRNA differential expression in normal tissues according to GTEx for GPR143 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.3), Brain - Caudate (basal ganglia) (x4.2), and Brain - Putamen (basal ganglia) (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GPR143 Gene



NURSA nuclear receptor signaling pathways regulating expression of GPR143 Gene:

GPR143

SOURCE GeneReport for Unigene cluster for GPR143 Gene:

Hs.74124

mRNA Expression by UniProt/SwissProt for GPR143 Gene:

P51810-GP143_HUMAN
Tissue specificity: Expressed at high levels in the retina, including the retinal pigment epithelium (RPE), and in melanocytes. Weak expression is observed in brain and adrenal gland.

Evidence on tissue expression from TISSUES for GPR143 Gene

  • Skin(4.4)
  • Eye(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPR143 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • head
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with GPR143: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for GPR143 Gene

Orthologs for GPR143 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPR143 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia GPR143 33
  • 82.68 (n)
cow
(Bos Taurus)
Mammalia GPR143 33 34
  • 81.18 (n)
mouse
(Mus musculus)
Mammalia Gpr143 33 16 34
  • 80.76 (n)
rat
(Rattus norvegicus)
Mammalia Gpr143 33
  • 79.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GPR143 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPR143 33 34
  • 67.36 (n)
lizard
(Anolis carolinensis)
Reptilia GPR143 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpr143 33
  • 64.82 (n)
Str.11107 33
zebrafish
(Danio rerio)
Actinopterygii gpr143 33 34
  • 60.37 (n)
zgc65915 33
Species where no ortholog for GPR143 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GPR143 Gene

ENSEMBL:
Gene Tree for GPR143 (if available)
TreeFam:
Gene Tree for GPR143 (if available)

Paralogs for GPR143 Gene

Pseudogenes.org Pseudogenes for GPR143 Gene

genes like me logo Genes that share paralogs with GPR143: view

No data available for Paralogs for GPR143 Gene

Variants for GPR143 Gene

Sequence variations from dbSNP and Humsavar for GPR143 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs137852296 Pathogenic, Albinism ocular 1 (OA1) [MIM:300500] 9,759,390(-) TCTGG(A/C/T)GGCTG reference, missense
rs137852297 Pathogenic, Albinism ocular 1 (OA1) [MIM:300500] 9,743,637(-) TTACA(A/C/T)GGAGA reference, missense
rs137852298 Pathogenic, Nystagmus congenital X-linked 6 (NYS6) [MIM:300814] 9,760,811(-) CCGGT(C/T)CACCG reference, missense
rs199899645 Albinism ocular 1 (OA1) [MIM:300500] 9,746,146(+) GCCCC(A/G)CTCAC reference, missense
rs58933950 Pathogenic, Albinism ocular 1 (OA1) [MIM:300500] 9,759,332(+) AATAC(C/T)TCAGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GPR143 Gene

Variant ID Type Subtype PubMed ID
esv2083318 CNV deletion 18987734
esv2672365 CNV deletion 23128226
esv2739956 CNV deletion 23290073
esv3558606 CNV deletion 23714750
esv3558607 CNV deletion 23714750

Variation tolerance for GPR143 Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPR143 Gene

Human Gene Mutation Database (HGMD)
GPR143
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPR143

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPR143 Gene

Disorders for GPR143 Gene

MalaCards: The human disease database

(12) MalaCards diseases for GPR143 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ocular albinism, type i, nettleship-falls type
  • oa1
nystagmus 6, congenital, x-linked
  • congenital nystagmus 6, x-linked
ocular albinism, x-linked
  • nettleship-falls ocular albinism
ocular albinism
  • albinism, ocular
albinism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GP143_HUMAN
  • Albinism ocular 1 (OA1) [MIM:300500]: Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. {ECO:0000269 PubMed:11115845, ECO:0000269 PubMed:11214907, ECO:0000269 PubMed:16524428, ECO:0000269 PubMed:16621890, ECO:0000269 PubMed:16646960, ECO:0000269 PubMed:17822861, ECO:0000269 PubMed:17960122, ECO:0000269 PubMed:18697795, ECO:0000269 PubMed:18978956, ECO:0000269 PubMed:8634705, ECO:0000269 PubMed:9529334, ECO:0000269 PubMed:9887374}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nystagmus congenital X-linked 6 (NYS6) [MIM:300814]: A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. {ECO:0000269 PubMed:17516023}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GPR143

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPR143
genes like me logo Genes that share disorders with GPR143: view

No data available for Genatlas for GPR143 Gene

Publications for GPR143 Gene

  1. Ocular albinism: evidence for a defect in an intracellular signal transduction system. (PMID: 10471510) Schiaffino MV … Ballabio A (Nature genetics 1999) 2 3 4 22 60
  2. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. (PMID: 7647783) Bassi MT … Ballabio A (Nature genetics 1995) 2 3 4 22 60
  3. 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. (PMID: 19717472) Giordano F … Raposo G (Human molecular genetics 2009) 3 4 22 60
  4. L-DOPA is an endogenous ligand for OA1. (PMID: 18828673) Lopez VM … McKay BS (PLoS biology 2008) 3 4 22 60
  5. Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. (PMID: 18978956) Fang S … Zhang Q (Molecular vision 2008) 3 4 22 60

Products for GPR143 Gene

Sources for GPR143 Gene

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