Details of the Target
General Information of Target
Target ID | LDTP05423 | |||||
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Target Name | P protein (OCA2) | |||||
Gene Name | OCA2 | |||||
Gene ID | 4948 | |||||
Synonyms |
D15S12; P; P protein; Melanocyte-specific transporter protein; Pink-eyed dilution protein homolog |
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3D Structure | ||||||
Sequence |
MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSS
WAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEF ITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPHIRLRLSKLRRCVQWLKV MGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSHVDSTLLQVDLAGALVASG PSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPRRSEHSVMSRTFEVLTRETV SISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIVHRTLAAMLGS LAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRG RVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGA ATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKE PSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQE DKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIW LLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQR LIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGACLGG NGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN |
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Target Bioclass |
Transporter and channel
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Family |
CitM (TC 2.A.11) transporter family
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Subcellular location |
Melanosome membrane
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Function |
Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation. One of the components of the mammalian pigmentary system. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis.
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Uniprot ID | ||||||
Ensemble ID | ||||||
HGNC ID |
Target Site Mutations in Different Cell Lines
Cell line | Mutation details | Probe for labeling this protein in this cell | |||
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AU565 | SNV: p.L734Q | . | |||
CCK81 | Deletion: p.K614SfsTer14 | . | |||
COLO678 | SNV: p.T708I | . | |||
COLO792 | SNV: p.A16T | DBIA Probe Info | |||
DAOY | SNV: p.D372E | . | |||
HCC15 | SNV: p.E693Ter | . | |||
HCC1954 | SNV: p.A773T | DBIA Probe Info | |||
HUH7 | SNV: p.V467A | . | |||
IGR39 | SNV: p.R243H | . | |||
JHH6 | SNV: p.I250T | . | |||
JURKAT | SNV: p.V690I | . | |||
KNS42 | SNV: p.G340S | . | |||
MDAMB436 | SNV: p.M816I | . | |||
NCIH23 | SNV: p.G795V | . | |||
NCIH661 | SNV: p.D408Y | . | |||
NUGC3 | SNV: p.V467A | . | |||
OVCAR8 | SNV: p.G359R | . | |||
OVK18 | Deletion: p.K614SfsTer14 | . | |||
RKO | Deletion: p.K614SfsTer14 SNV: p.A424T |
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RL952 | Deletion: p.D486TfsTer13;p.K614SfsTer14 SNV: p.Y215H |
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SG231 | SNV: p.F804L | . | |||
TOV21G | SNV: p.P12H | . |
Probe(s) Labeling This Target
ABPP Probe
Probe name | Structure | Binding Site(Ratio) | Interaction ID | Ref | |
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DBIA Probe Info |
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C457(1.48) | LDD3337 | [1] |
Competitor(s) Related to This Target