ENSG00000101850


Homo sapiens

Features
Gene ID: ENSG00000101850
  
Biological name :GPR143
  
Synonyms : GPR143 / G protein-coupled receptor 143 / P51810
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p22.2
Gene start: 9725346
Gene end: 9786297
  
Corresponding Affymetrix probe sets: 206696_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000406138
Ensembl peptide - ENSP00000417161
Ensembl peptide - ENSP00000390546
NCBI entrez gene - 4935     See in Manteia.
OMIM - 300808
RefSeq - NM_000273
RefSeq - XM_005274541
RefSeq Peptide - NP_000264
swissprot - C9J9N1
swissprot - H7BZN6
swissprot - P51810
Ensembl - ENSG00000101850
  
Related genetic diseases (OMIM): 300500 - Ocular albinism, type I, Nettleship-Falls type, 300500
  300814 - Nystagmus 6, congenital, X-linked, 300814
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gpr143ENSDARG00000034572Danio rerio
 GPR143ENSGALG00000016615Gallus gallus
 Gpr143ENSMUSG00000025333Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001414  G-protein coupled receptor 143


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006726 eye pigment biosynthetic process TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007218 neuropeptide signaling pathway IEA
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0032400 melanosome localization IDA
 biological_processGO:0032402 melanosome transport IDA
 biological_processGO:0032438 melanosome organization IMP
 biological_processGO:0035584 calcium-mediated signaling using intracellular calcium source IDA
 biological_processGO:0048015 phosphatidylinositol-mediated signaling IDA
 biological_processGO:0050848 regulation of calcium-mediated signaling IDA
 biological_processGO:1902908 regulation of melanosome transport IEA
 biological_processGO:1903056 regulation of melanosome organization IEA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0033162 melanosome membrane IEA
 cellular_componentGO:0042470 melanosome IDA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0035240 dopamine binding IEA
 molecular_functionGO:0035643 L-DOPA receptor activity IDA
 molecular_functionGO:0072544 L-DOPA binding IEA
 molecular_functionGO:0072545 tyrosine binding IEA


Pathways (from Reactome)
Pathway description
Amine ligand-binding receptors
G alpha (q) signalling events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000483 Astigmatism 
Show

 HP:0000484 Hyperopic astigmatism 
Show

 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
Show

 HP:0000505 Impaired vision 
Show

 HP:0000545 Myopia 
Show

 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
Show

 HP:0000615 Abnormality of the pupils 
Show

 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show

 HP:0000646 Amblyopia "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators]
Show

 HP:0000666 Nystagmus, horizontal 
Show

 HP:0001107 Ocular albinism 
Show

 HP:0001361 Head nodding 
Show

 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
Show

 HP:0001480 Freckling 
Show

 HP:0005592 Giant melanosomes in melanocytes 
Show

 HP:0007680 Depigmented fundus 
Show

 HP:0007750 Foveal hypoplasia 
Show

 HP:0008069 Neoplasia of the skin 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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