KEGG   Homo sapiens (human): 4935
Entry
4935              CDS       T01001                                 

Gene name
GPR143, NYS6, OA1
Definition
(RefSeq) G protein-coupled receptor 143
  KO
K08470  ocular albinism type 1 protein
Organism
hsa  Homo sapiens (human)
Disease
H00169  Ocular albinism
H00776  Congenital motor nystagmus (CMN)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04030 G protein-coupled receptors [BR:hsa04030]
    4935 (GPR143)
G protein-coupled receptors [BR:hsa04030]
 Others
  Others
   Ocular albinism proteins
    4935 (GPR143)
SSDB
Motif
Pfam: Ocular_alb 7tm_2
Other DBs
NCBI-GeneID: 4935
NCBI-ProteinID: NP_000264
OMIM: 300808
HGNC: 20145
Ensembl: ENSG00000101850
Vega: OTTHUMG00000021118
Pharos: P51810(Tbio)
UniProt: P51810
Position
Xp22.2
AA seq 404 aa
MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSP
ATSPPASVRILRAAAACDLLGCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSA
MWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIMAWGLATLLCVEGAAMLYYPS
VSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGA
VIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNP
AQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVG
GQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL
NT seq 1215 nt   +upstreamnt  +downstreamnt
atggcctccccgcgcctagggaccttctgctgccccacgcgggacgcagccacgcagctc
gtgctgagcttccagccgcgggccttccacgcgctctgcctgggcagcggcgggctccgc
ttggcgctgggccttctgcagctgctgcccggccgccggcccgcgggccccgggtccccc
gcgacgtccccgccggcctcggtccgcatcctgcgcgctgccgctgcctgcgaccttctc
ggctgcctgggtatggtgatccggtccaccgtgtggttaggattcccaaattttgttgac
agcgtctcggatatgaaccacacggaaatttggcctgctgctttctgcgtggggagtgcg
atgtggatccagctgttgtacagtgcctgcttctggtggctgttttgctatgcagtggat
gcttatctggtgatccggagatcggcaggactgagcaccatcctgctgtatcacatcatg
gcgtggggcctggccaccctgctctgtgtggagggagccgccatgctctactacccttcc
gtgtccaggtgtgagcggggcctggaccacgccatcccccactatgtcaccatgtacctg
cccctgctgctggttctcgtggcgaaccccatcctgttccaaaagacagtgactgcagtg
gcctctttacttaaaggaagacaaggcatttacacggagaacgagaggaggatgggagcc
gtgatcaagatccgatttttcaaaatcatgctggttttaattatttgttggttgtcgaat
atcatcaatgaaagccttttattctatcttgagatgcaaacagatatcaatggaggttct
ttgaaacctgtcagaactgcagccaagaccacatggtttattatgggaatcctgaatcca
gcccagggatttctcttgtctttggccttctacggctggacaggatgcagcctgggtttt
cagtctcccaggaaggagatccagtgggaatcactgaccacctcggctgctgagggggct
cacccatccccactgatgccccatgaaaaccctgcttccgggaaggtgtctcaagtgggt
gggcagacttctgacgaagccctgagcatgctgtctgaaggttctgatgccagcacaatt
gaaattcacactgcaagtgaatcctgcaacaaaaatgagggtgaccctgctctcccaacc
catggagacctatga

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