Entity Details

Primary name GP143_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51810
EntryNameGP143_HUMAN
FullNameG-protein coupled receptor 143
TaxID9606
Evidenceevidence at protein level
Length404
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesGPR143

GO terms

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GOName
GO:0004930 G protein-coupled receptor activity
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0006726 eye pigment biosynthetic process
GO:0007165 signal transduction
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007601 visual perception
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0032400 melanosome localization
GO:0032402 melanosome transport
GO:0032438 melanosome organization
GO:0033162 melanosome membrane
GO:0035240 dopamine binding
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0035643 L-DOPA receptor activity
GO:0042470 melanosome
GO:0048015 phosphatidylinositol-mediated signaling
GO:0050848 regulation of calcium-mediated signaling
GO:0072544 L-DOPA binding
GO:0072545 tyrosine binding

Subcellular Location

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Subcellular Location
Apical cell membrane
Lysosome membrane
Melanosome membrane

Domains

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DomainNameCategoryType
IPR001414 G-protein coupled receptor 143FamilyFamily

Diseases

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Disease IDSourceNameDescription
300500 OMIMAlbinism ocular 1 (OA1)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. The disease is caused by variants affecting the gene represented in this entry.
300814 OMIMNystagmus congenital X-linked 6 (NYS6)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions