Gene: GPR143

Alternate names for this Gene: NYS6|OA1

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2

Description of this Gene: G protein-coupled receptor 143

Type of Gene: protein-coding

rs5934683 in GPR143 gene and Adenocarcinoma of large intestine PMID 22634755 2012 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

rs5934683 in GPR143 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 22634755 2012 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

rs5934683 in GPR143 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 22634755 2012 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

rs5934683 in GPR143 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 22634755 2012 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

rs5934683 in GPR143 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 22634755 2012 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

rs5934683 in GPR143 gene and Colorectal Carcinoma PMID 22634755 2012 We identified three new CRC risk loci at 6p21 (rs1321311, near CDKN1A; P = 1.14 × 10(-10)), 11q13.4 (rs3824999, intronic to POLD3; P = 3.65 × 10(-10)) and Xp22.2 (rs5934683, near SHROOM2; P = 7.30 × 10(-10)) This brings the number of independent loci associated with CRC risk to 20 and provides further insight into the genetic architecture of inherited susceptibility to CRC.

rs5934683 in GPR143 gene and Colorectal Neoplasms PMID 22634755 2012 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

rs5934683 in GPR143 gene and Malignant neoplasm of large intestine PMID 22634755 2012 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

rs5934683 in GPR143 gene and Malignant tumor of colon PMID 22634755 2012 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

rs58933950 in GPR143 gene and Ocular albinism, type I PMID 16524428 2006 The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor.

PMID 8634705 1995 Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

PMID 16621890 2006 An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1.

PMID 11214907 2001 Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

PMID 17822861 2007 New mutations identified in the ocular albinism type 1 gene.

PMID 11115845 2000 Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

PMID 16646960 2006 Eight previously unidentified mutations found in the OA1 ocular albinism gene.

PMID 17960122 2007 Identification of two novel mutations in families with X-linked ocular albinism.

PMID 18697795 2008 The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.

PMID 9887374 1999 X-linked ocular albinism: prevalence and mutations--a national study.

PMID 18978956 2008 Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

PMID 9529334 1998 OA1 mutations and deletions in X-linked ocular albinism.