LOCUS       NM_000273               1645 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.
ACCESSION   NM_000273
VERSION     NM_000273.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1645)
  AUTHORS   Xu,J., Zheng,Y., Cheng,L., Sun,H., Yu,X., Gu,F. and Song,E.
  TITLE     GPR143 mutations in an X-linked infantile nystagmus syndrome cohort
            in Southeast China
  JOURNAL   Mol Vis 29, 234-244 (2023)
   PUBMED   38222445
  REMARK    GeneRIF: GPR143 mutations in an X-linked infantile nystagmus
            syndrome cohort in Southeast China.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1645)
  AUTHORS   Lee,Y.J., Shin,K.J., Jang,H.J., Ryu,J.S., Lee,C.Y., Yoon,J.H.,
            Seo,J.K., Park,S., Lee,S., Je,A.R., Huh,Y.H., Kong,S.Y., Kwon,T.,
            Suh,P.G. and Chae,Y.C.
  TITLE     GPR143 controls ESCRT-dependent exosome biogenesis and promotes
            cancer metastasis
  JOURNAL   Dev Cell 58 (4), 320-334 (2023)
   PUBMED   36800996
  REMARK    GeneRIF: GPR143 controls ESCRT-dependent exosome biogenesis and
            promotes cancer metastasis.
REFERENCE   3  (bases 1 to 1645)
  AUTHORS   Masukawa,D., Takahagi,R., Nakao,Y. and Goshima,Y.
  TITLE     L-DOPA Receptor GPR143 Functionally Couples with Adrenergic alpha1B
            Receptor at the Second Transmembrane Interface
  JOURNAL   Biol Pharm Bull 46 (7), 869-873 (2023)
   PUBMED   37394637
  REMARK    GeneRIF: L-DOPA Receptor GPR143 Functionally Couples with
            Adrenergic alpha1B Receptor at the Second Transmembrane Interface.
REFERENCE   4  (bases 1 to 1645)
  AUTHORS   Zhong,J., You,B., Xu,K., Zhang,X., Xie,Y. and Li,Y.
  TITLE     GPR143 genotypic and ocular phenotypic characterisation in a
            Chinese cohort with ocular albinism
  JOURNAL   Ophthalmic Genet 42 (6), 717-724 (2021)
   PUBMED   34346269
  REMARK    GeneRIF: GPR143 genotypic and ocular phenotypic characterisation in
            a Chinese cohort with ocular albinism.
REFERENCE   5  (bases 1 to 1645)
  AUTHORS   Oetting,W.S.
  TITLE     New insights into ocular albinism type 1 (OA1): Mutations and
            polymorphisms of the OA1 gene
  JOURNAL   Hum Mutat 19 (2), 85-92 (2002)
   PUBMED   11793467
  REMARK    GeneRIF: Review: mutational analysis in ocular albinism type 1
            Review article
REFERENCE   6  (bases 1 to 1645)
  AUTHORS   Bassi,M.T., Schiaffino,M.V., Renieri,A., De Nigris,F., Galli,L.,
            Bruttini,M., Gebbia,M., Bergen,A.A., Lewis,R.A. and Ballabio,A.
  TITLE     Cloning of the gene for ocular albinism type 1 from the distal
            short arm of the X chromosome
  JOURNAL   Nat Genet 10 (1), 13-19 (1995)
   PUBMED   7647783
REFERENCE   7  (bases 1 to 1645)
  AUTHORS   Meindl,A., Hosenfeld,D., Bruckl,W., Schuffenhauer,S., Jenderny,J.,
            Bacskulin,A., Oppermann,H.C., Swensson,O., Bouloux,P. and
            Meitinger,T.
  TITLE     Analysis of a terminal Xp22.3 deletion in a patient with six
            monogenic disorders: implications for the mapping of X linked
            ocular albinism
  JOURNAL   J Med Genet 30 (10), 838-842 (1993)
   PUBMED   8230160
REFERENCE   8  (bases 1 to 1645)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37053367
REFERENCE   9  (bases 1 to 1645)
  AUTHORS   Lewis,R.A.
  TITLE     Ocular Albinism, X-Linked - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301517
REFERENCE   10 (bases 1 to 1645)
  AUTHORS   Schnur,R.E., Trask,B.J., van den Engh,G., Punnett,H.H.,
            Kistenmacher,M., Tomeo,M.A., Naids,R.E. and Nussbaum,R.L.
  TITLE     An Xp22 microdeletion associated with ocular albinism and
            ichthyosis: approximation of breakpoints and estimation of deletion
            size by using cloned DNA probes and flow cytometry
  JOURNAL   Am J Hum Genet 45 (5), 706-720 (1989)
   PUBMED   2573275
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z48804.1, BU188283.1 and
            AC003036.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_000273.2.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068977.1, Z48804.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000467482.6/ ENSP00000417161.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1577              Z48804.1           31-1607
            1578-1578           BU188283.1         431-431
            1579-1645           AC003036.1         30727-30793
FEATURES             Location/Qualifiers
     source          1..1645
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..1645
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="G protein-coupled receptor 143"
                     /db_xref="GeneID:4935"
                     /db_xref="HGNC:HGNC:20145"
                     /db_xref="MIM:300808"
     exon            1..280
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1245
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="ocular albinism type 1 protein; ocular albinism 1"
                     /codon_start=1
                     /product="G-protein coupled receptor 143"
                     /protein_id="NP_000264.2"
                     /db_xref="CCDS:CCDS14134.2"
                     /db_xref="GeneID:4935"
                     /db_xref="HGNC:HGNC:20145"
                     /db_xref="MIM:300808"
                     /translation="MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALG
                     LLQLLPGRRPAGPGSPATSPPASVRILRAAAACDLLGCLGMVIRSTVWLGFPNFVDSV
                     SDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIM
                     AWGLATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVT
                     AVASLLKGRQGIYTENERRMGAVIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDI
                     NGGSLKPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTT
                     SAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKN
                     EGDPALPTHGDL"
     exon            281..390
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /inference="alignment:Splign:2.1.0"
     exon            391..485
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /inference="alignment:Splign:2.1.0"
     exon            486..578
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /inference="alignment:Splign:2.1.0"
     exon            579..688
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /inference="alignment:Splign:2.1.0"
     exon            689..797
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /inference="alignment:Splign:2.1.0"
     exon            798..915
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1150
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1645
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1559..1564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="hexamer: AATAAA"
     polyA_site      1578
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="major polyA site"
     regulatory      1626..1631
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
                     /note="hexamer: AATAAA"
     polyA_site      1645
                     /gene="GPR143"
                     /gene_synonym="NYS6; OA1"
ORIGIN      
        1 acacccgagc cgcgtccgcg aacacagccc atggcctccc cgcgcctagg gaccttctgc
       61 tgccccacgc gggacgcagc cacgcagctc gtgctgagct tccagccgcg ggccttccac
      121 gcgctctgcc tgggcagcgg cgggctccgc ttggcgctgg gccttctgca gctgctgccc
      181 ggccgccggc ccgcgggccc cgggtccccc gcgacgtccc cgccggcctc ggtccgcatc
      241 ctgcgcgctg ccgctgcctg cgaccttctc ggctgcctgg gtatggtgat ccggtccacc
      301 gtgtggttag gattcccaaa ttttgttgac agcgtctcgg atatgaacca cacggaaatt
      361 tggcctgctg ctttctgcgt ggggagtgcg atgtggatcc agctgttgta cagtgcctgc
      421 ttctggtggc tgttttgcta tgcagtggat gcttatctgg tgatccggag atcggcagga
      481 ctgagcacca tcctgctgta tcacatcatg gcgtggggcc tggccaccct gctctgtgtg
      541 gagggagccg ccatgctcta ctacccttcc gtgtccaggt gtgagcgggg cctggaccac
      601 gccatccccc actatgtcac catgtacctg cccctgctgc tggttctcgt ggcgaacccc
      661 atcctgttcc aaaagacagt gactgcagtg gcctctttac ttaaaggaag acaaggcatt
      721 tacacggaga acgagaggag gatgggagcc gtgatcaaga tccgattttt caaaatcatg
      781 ctggttttaa ttatttgttg gttgtcgaat atcatcaatg aaagcctttt attctatctt
      841 gagatgcaaa cagatatcaa tggaggttct ttgaaacctg tcagaactgc agccaagacc
      901 acatggttta ttatgggaat cctgaatcca gcccagggat ttctcttgtc tttggccttc
      961 tacggctgga caggatgcag cctgggtttt cagtctccca ggaaggagat ccagtgggaa
     1021 tcactgacca cctcggctgc tgagggggct cacccatccc cactgatgcc ccatgaaaac
     1081 cctgcttccg ggaaggtgtc tcaagtgggt gggcagactt ctgacgaagc cctgagcatg
     1141 ctgtctgaag gttctgatgc cagcacaatt gaaattcaca ctgcaagtga atcctgcaac
     1201 aaaaatgagg gtgaccctgc tctcccaacc catggagacc tatgaagggg atgtgctggg
     1261 ggtccagacc ccatattcct cagactcaac aattcttgtt ctttagaact gtgttctcac
     1321 cttcccaaca ctgcactgcc gaagtgtagc ggcccccaaa ccttgctctc atcaccagct
     1381 agagcttctt cccgaagggc ctttaggata ggagaaaggg ttcatgcaca cacgtgtgag
     1441 aatggaagag ccccctccag accactctac agctgctcta gccttagttg ccactaggaa
     1501 gttttctgag gctggctgta aagtaagtgt aaggtccaca tccttgggga agtagttaaa
     1561 taaaatagtt atgactgagc tctcagcctg acttggattc tgtcttaaca cttctagcaa
     1621 aagaaaataa atacatgtac agtta
//
