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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GPR143 Gene

protein-coding   GIFtS: 56
GCID: GC0XM009654

G Protein-Coupled Receptor 143

(Previous name: ocular albinism 1 (Nettleship-Falls))
(Previous symbol: OA1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
G Protein-Coupled Receptor 1431 2     Ocular Albinism 11
OA11 2 3 5     Ocular Albinism 1 (Nettleship-Falls)1
Ocular Albinism Type 1 Protein2 3     G-Protein Coupled Receptor 1432
NYS62 5     

External Ids:    HGNC: 201451   Entrez Gene: 49352   Ensembl: ENSG000001018507   OMIM: 3008085   UniProtKB: P518103   

Export aliases for GPR143 gene to outside databases

Previous GC identifers: GC0XM009104 GC0XM009503 GC0XM007525


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 albinism, and ocular albinism. GO annotations related to this gene include tyrosine binding and G-protein coupled receptor activity.

UniProtKB/Swiss-Prot: GP143_HUMAN, P51810
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

Gene Wiki entry for GPR143 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GPR143 gene promoter:
         STAT5B   NF-1   NF-1/L   USF1   USF2   USF-1:USF-2   Arnt   HFH-1   USF-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGPR143 promoter sequence
   Search SABiosciences Chromatin IP Primers for GPR143

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GPR143


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.3   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.3

GPR143 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPR143 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM009654:  view genomic region     (about GC identifiers)

Start:
9,693,386 bp from pter      End:
9,754,337 bp from pter
Size:
60,952 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GP143_HUMAN, P51810 (See protein sequence)
Recommended Name: G-protein coupled receptor 143  
Size: 404 amino acids; 43878 Da
Subunit: Interacts with heterotrimeric G(i) proteins. Interacts with ARRB1 and ARRB2. Interacts with MLANA
Subcellular location: Golgi apparatus. 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
Sequence caution: Sequence=AAH68977.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAA88742.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAW98773.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q6NTI7

Explore the universe of human proteins at neXtProt for GPR143: NX_P51810

Explore proteomics data for GPR143 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • UniProtKB: Phosphorylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51810

  • GPR143 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GPR143 Protein Expression
    REFSEQ proteins: NP_000264.2  
    ENSEMBL proteins: 
     ENSP00000417161   ENSP00000390546   ENSP00000406138   ENSP00000370316  

    Human Recombinant Protein Products for GPR143: 
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    Cloud-Clone Corp. Proteins for GPR143 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10471510
    GO:0005765lysosomal membrane IDA16621890
    GO:0005794Golgi apparatus IDA19717472
    GO:0005886plasma membrane IDA16524428
    GO:0016020membrane TAS10471510

    GPR143 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    O7TM: GPCR / Unclassified : 7TM orphan receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: GPR143 
    Other 7TM proteins

    1 InterPro protein domain:
     IPR001414 Ocular_alb1

    Graphical View of Domain Structure for InterPro Entry P51810

    ProtoNet protein and cluster: P51810

    1 Blocks protein domain: IPB001414 Ocular albinism type 1 protein signature

    UniProtKB/Swiss-Prot: GP143_HUMAN, P51810
    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
    Similarity: Belongs to the G-protein coupled receptor OA family


    GPR143 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GP143_HUMAN, P51810
    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

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity IDA16524428
    GO:0005515protein binding IPI16524428
    GO:0035240dopamine binding IDA18828673
    GO:0035643L-DOPA receptor activity IDA18828673
    GO:0072544L-DOPA binding IDA18828673
         
    GPR143 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gpr143):
     nervous system  pigmentation  vision/eye 

    GPR143 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gpr143tm1Inc for GPR143

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GPR143 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GPR143

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GPR143 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1GPCRs, Other
    GPCRs, Other


    1 BioSystems Pathway for GPR143
        GPCRs, Other


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GPR143

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for GPR143 (P518101, 3 ENSP000003703164) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLANAQ166551, 3, ENSP000003708804EBI-2509708,EBI-2509726 I2D: score=1 STRING: ENSP00000370880
    SUCLG2Q96I993, ENSP000003074324I2D: score=1 STRING: ENSP00000307432
    GNAI1P630963, ENSP000003430274I2D: score=1 STRING: ENSP00000343027
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006726eye pigment biosynthetic process TAS7647783
    GO:0007165signal transduction TAS10471510
    GO:0007186G-protein coupled receptor signaling pathway IMP18828673
    GO:0007601visual perception TAS7647783
    GO:0032400melanosome localization ISS--

    GPR143 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GPR143 (GP143)

    1 IUPHAR Ligand for GPR143 (GPR143)    About this table 
    LigandTypeActionAffinityPubmed IDs
    L-DOPA
    AgonistAgonist18828673

    Search CenterWatch for drugs/clinical trials and news about GPR143 / GP143

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GPR143 gene: 
    NM_000273.2  

    Unigene Cluster for GPR143:

    G protein-coupled receptor 143
    Hs.74124  [show with all ESTs]
    Unigene Representative Sequence: BC068977
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000467482 ENST00000487206 ENST00000447366 ENST00000431126 ENST00000480178
    ENST00000380929(uc004cst.2)
    miRNA
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    Additional mRNA sequence: 

    BC015657.2 BC068977.1 Z48804.1 

    4 DOTS entries:

    DT.455188  DT.210171  DT.121323405  DT.99957717 

    24/39 AceView cDNA sequences (see all 39):

    AA379887 CA488919 BQ678605 Z48804 BC068977 BM450073 AA865729 BU168493 
    BQ188298 NM_000273 BI858248 BI862115 BG762171 BG760730 BM929306 AI379595 
    BM729346 BC015657 AA858096 AI384064 BI757469 BE276266 AA379275 AI262294 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GPR143 expression in normal human tissues (normalized intensities)      GPR143 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACACACGTG
    GPR143 Expression
    About this image


    GPR143 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Mural Granulosa Cells Antral Follicle
             oocyte   
     
     Melanocytes (Integumentary System)    fully expand to see all 4 entries
             skin ; melanocytes   
     
     Epidermis (Integumentary System)    fully expand to see all 4 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Nose (Sensory Organs)
             nasopharynx ; respiratory epithelial cells   

    See GPR143 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GPR143

    SOURCE GeneReport for Unigene cluster: Hs.74124

    UniProtKB/Swiss-Prot: GP143_HUMAN, P51810
    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

        SABiosciences Expression via Pathway-Focused PCR Array including GPR143: 
              G Protein Coupled Receptors 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPR143

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GPR143 gene from 6/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gpr1431 , 5 G protein-coupled receptor 1431, 5 80.76(n)1
    78.86(a)1
      X (68.46 cM)5
    182411  NM_010951.31  NP_035081.31 
     1527819215 
    chicken
    (Gallus gallus)
    Aves GPR1431 G protein-coupled receptor 143 68.35(n)
    63.03(a)
      418652  XM_416848.3  XP_416848.2 
    lizard
    (Anolis carolinensis)
    Reptilia GPR1436
    G protein-coupled receptor 143
    59(a)
    1 ↔ 1
    3(118552710-118578176)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.111072 Transcribed sequence with weak similarity to protein more 74.24(n)    CF224631.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc659152 hypothetical protein MGC65915 75.1(n)   393795  BC059806.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0082371 AGAP008237-PA 48.43(n)
    35.88(a)
      1277742  XM_317232.3  XP_317232.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GPR143 gene

    GPR143 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GPR143
    PGOHUM00000233680


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/813 SNPs in GPR143 are shown (see all 813)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0055074
    Albinism ocular 1 (OA1)4--see VAR_0055072 G D mis40--------
    VAR_0055134
    Albinism ocular 1 (OA1)4--see VAR_0055132 W R mis40--------
    VAR_0632684
    Albinism ocular 1 (OA1)4--see VAR_0632682 C W mis40--------
    VAR_0181414
    Albinism ocular 1 (OA1)4--see VAR_0181412 W C mis40--------
    VAR_0181384
    Albinism ocular 1 (OA1)4--see VAR_0181382 I V mis40--------
    VAR_0055204
    Albinism ocular 1 (OA1)4--see VAR_0055202 W G mis40--------
    VAR_0055154
    Albinism ocular 1 (OA1)4--see VAR_0055152 S N mis40--------
    VAR_0055174
    Albinism ocular 1 (OA1)4--see VAR_0055172 T K mis40--------
    VAR_0632674
    Albinism ocular 1 (OA1)4--see VAR_0632672 C G mis40--------
    VAR_0055114
    Albinism ocular 1 (OA1)4--see VAR_0055112 G E mis40--------

    HapMap Linkage Disequilibrium report for GPR143 (9693386 - 9754337 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GPR143:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672365CNV Deletion23128226
    esv2083318CNV Deletion18987734
    esv2739956CNV Deletion23290073


    Human Gene Mutation Database (HGMD): GPR143

    Locus Specific Mutation Databases (LSDB): GPR143
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300808   
    OMIM disorders: 300500  300814  
    UniProtKB/Swiss-Prot: GP143_HUMAN, P51810
  • 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for GPR143:    About MalaCards
    albinism    ocular albinism    ocular albinism, x-linked    congenital nystagmus 6, x-linked
    ocular albinism, type i, nettleship-falls type    congenital nystagmus    strabismus    astigmatism
    oculocutaneous albinism    kallmann syndrome    chondrodysplasia    ichthyosis
    melanoma    retinitis

    2 diseases from the University of Copenhagen DISEASES database for GPR143:
    Ocular albinism     Congenital nystagmus

    GPR143 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GPR143 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    albinism ocular 98.9 73 8634705 (3), 17960122 (3), 8889556 (3), 11115845 (3) (see all 36)
    albinism 83 5 11793467 (1), 18828673 (1), 19604113 (1), 12515581 (1) (see all 5)
    nystagmus congenital 82.3 5 17516023 (2), 11214907 (1), 11520764 (1)
    hypoplasia 68.4 10 11520764 (3), 12868035 (1), 11793467 (1), 9529334 (1) (see all 7)
    strabismus 60.8 6 7795590 (1), 11793467 (1), 19604113 (1), 11549106 (1) (see all 6)
    melanoma 39.4 4 12538723 (2), 8799153 (1), 7647783 (1)

    GeneTests: GPR143
    GeneReviews: GPR143

    Export disorders for GPR143 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GPR143 gene, integrated from 9 sources (see all 68):
    (articles sorted by number of sources associating them with GPR143)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. (PubMed id 7647783)1, 2, 3, 9 Bassi M.T.... Ballabio A. (1995)
    2. Ocular albinism: evidence for a defect in an intracellular signal transduction system. (PubMed id 10471510)1, 2, 3, 9 Schiaffino M.V....Ballabio A. (1999)
    3. L-DOPA is an endogenous ligand for OA1. (PubMed id 18828673)1, 2, 9 Lopez V.M....McKay B.S. (2008)
    4. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. (PubMed id 11214907)1, 2, 9 Bassi M.T.... Schiaffino M.V. (2001)
    5. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. (PubMed id 11115845)1, 2, 9 d'Addio M....Schiaffino M.V. (2000)
    6. The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. (PubMed id 16524428)1, 2, 9 Innamorati G....Schiaffino M.V. (2006)
    7. The ocular albinism type 1 (OA1) G-protein-coupled re ceptor functions with MART-1 at early stages of melanogenesis to control melano some identity and composition. (PubMed id 19717472)1, 2, 9 Giordano F....Raposo G. (2009)
    8. New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene. (PubMed id 11793467)1, 2, 9 Oetting W.S. (2002)
    9. Identification of two novel mutations in families with X-linked ocular albinism. (PubMed id 17960122)1, 2, 9 Iannaccone A....Sidjanin D.J. (2007)
    10. An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1. (PubMed id 16621890)1, 2, 9 Piccirillo R....Schiaffino M.V. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4935 HGNC: 20145 AceView: GPR143 Ensembl:ENSG00000101850 euGenes: HUgn4935
    ECgene: GPR143 H-InvDB: GPR143

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GPR143 Pharmacogenomics, SNPs, Pathways
    Mutations of the OA1 genehttp://www.retina-international.org/files/sci-news/oa1mut.htm
    Albinism database (ADB)http://albinismdb.med.umn.edu/oa1mut.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GPR143

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GPR143 gene:
    Search GeneIP for patents involving GPR143

    GeneCards and IP:
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