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Q62052

- P_MOUSE

UniProt

Q62052 - P_MOUSE

Protein

P protein

Gene

Oca2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the postranslational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. It can modulate intracellular glutathione metabolism.1 Publication

    GO - Biological processi

    1. cell proliferation Source: MGI
    2. developmental pigmentation Source: MGI
    3. melanin biosynthetic process Source: MGI
    4. melanocyte differentiation Source: MGI
    5. pigmentation Source: MGI
    6. spermatid development Source: MGI
    7. transmembrane transport Source: InterPro

    Keywords - Biological processi

    Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    P protein
    Alternative name(s):
    Melanocyte-specific transporter protein
    Pink-eyed dilution protein
    Gene namesi
    Name:Oca2
    Synonyms:P
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 7

    Organism-specific databases

    MGIiMGI:97454. Oca2.

    Subcellular locationi

    Melanosome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Ensembl
    2. endosome membrane Source: Ensembl
    3. integral component of membrane Source: UniProtKB-KW
    4. lysosomal membrane Source: Ensembl
    5. melanosome membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Oca2 are a cause of hypopigmentation of the eyes, skin, and fur. The protein is missing or altered in six independent mutant alleles of the OCA2 locus, suggesting that disruption of this gene results in hypopigmentation phenotype that defines mutant OCA2 alleles.1 Publication

    Keywords - Diseasei

    Albinism

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 833833P proteinPRO_0000172510Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi210 – 2101N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi214 – 2141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi269 – 2691N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ62052.
    PRIDEiQ62052.

    PTM databases

    PhosphoSiteiQ62052.

    Expressioni

    Tissue specificityi

    Most abundant in melanocytes. Also present in neonatal and adult eye tissue presumably as a result of expression in the retinal pigmented epithelium and choroid body, known sites of melanogenesis in the eye. Small but detectable amounts also observed in fetal, neonatal and adult brain. Moderate amounts detected in adult testis and ovary. Not detected in heart, kidney, spleen, liver or thymus.1 Publication

    Gene expression databases

    ArrayExpressiQ62052.
    BgeeiQ62052.
    CleanExiMM_OCA2.
    GenevestigatoriQ62052.

    Structurei

    3D structure databases

    ProteinModelPortaliQ62052.
    SMRiQ62052. Positions 309-521.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 172172CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini194 – 325132ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini347 – 3482CytoplasmicSequence Analysis
    Topological domaini370 – 38112ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini403 – 41715CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini439 – 50163ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini523 – 61795CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini639 – 6391ExtracellularSequence Analysis
    Topological domaini661 – 67515CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini697 – 71822ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini740 – 75920CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini781 – 81030ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini832 – 8332CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei173 – 19321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei326 – 34621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei349 – 36921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei382 – 40221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei418 – 43821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei502 – 52221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei618 – 63821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei640 – 66021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei676 – 69621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei719 – 73921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei760 – 78021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei811 – 83121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi246 – 2505Poly-Val
    Compositional biasi259 – 2624Poly-Arg

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1055.
    GeneTreeiENSGT00390000017120.
    HOGENOMiHOG000047303.
    HOVERGENiHBG008343.
    InParanoidiQ0VBP9.
    OMAiQQVTHNW.
    OrthoDBiEOG738040.
    PhylomeDBiQ62052.
    TreeFamiTF323556.

    Family and domain databases

    InterProiIPR004680. Cit_transptr-like_dom.
    [Graphical view]
    PfamiPF03600. CitMHS. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q62052-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRLENKDIRL ASAVLEVELH QTSALSVPTC PDPGRLLTVK PATSNYKLGQ    50
    ADPCIPYAGE AAGKSVCVPE HTEFGSFLVK GSSSLKDLSF KEDTPLLWNS 100
    SQKKRSQLMP VHHPEFIATE GSWENGLTAW EQKCMLGKEV ADLSALASSE 150
    KRDLAGSVHL RAQVSKLGCC VRWIKITGLF VFVVLCSILF SLYPDQGKFW 200
    QLLAVSPLEN YSVNLSGHAD SMILQLDLAG ALMAGGPSGS GKEEHVVVVV 250
    TQTDAAGNRR RRPQQLTYNW TVLLNPRSEH VVVSRTFEIV SREAVSISIQ 300
    ASLQQTRLVP LLLAHQFLGA SVEAQVASAV AILAGVYTLI IFEIVHRTLA 350
    AMLGALAALA ALAVVGDRPS LTHVVEWIDF ETLALLFGMM ILVAVFSETG 400
    FFDYCAVKAY QLSRGRVWAM IFMLCLMAAI LSAFLDNVTT MLLFTPVTIR 450
    LCEVLNLDPR QVLIAEVIFT NIGGAATAIG DPPNVIIVSN QELRKMGLDF 500
    AGFTAHMFLG ICLVLLVSFP LLRLLYWNKK LYNKEPSEIV ELKHEIHVWR 550
    LTAQRISPAS REETAVRGLL LEKVLALEHL LAQRLHTFHR QISQEDKNWE 600
    TNIQELQRKH RISDRSLLVK CLTVLGFVIS MFFLNSFVPG IHLDLGWIAI 650
    LGAIWLLILA DIHDFEIILH RVEWATLLFF AALFVLMEAL THLHLVEYVG 700
    EQTALLIKMV PEDQRFAAAI VLIVWVSALA SSLIDNIPFT ATMIPVLLNL 750
    SQDPEISLPA LPLMYALALG ACLGGNGTLI GASTNVVCAG IAEKHGYGFS 800
    FMEFFRLGFP VMLMSCTIGM CYLLIAHIVV GWN 833
    Length:833
    Mass (Da):91,869
    Last modified:November 1, 1996 - v1
    Checksum:i41B9F6491EFAFEE3
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M97900 mRNA. Translation: AAA39908.1.
    BC119220 mRNA. Translation: AAI19221.1.
    BC120549 mRNA. Translation: AAI20550.1.
    CCDSiCCDS21319.1.
    RefSeqiNP_068679.1. NM_021879.2.
    XP_006540762.1. XM_006540699.1.
    UniGeneiMm.137052.

    Genome annotation databases

    EnsembliENSMUST00000032633; ENSMUSP00000032633; ENSMUSG00000030450.
    GeneIDi18431.
    KEGGimmu:18431.
    UCSCiuc009hdy.1. mouse.

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    Questioning colour - Issue 54 of January 2005

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M97900 mRNA. Translation: AAA39908.1 .
    BC119220 mRNA. Translation: AAI19221.1 .
    BC120549 mRNA. Translation: AAI20550.1 .
    CCDSi CCDS21319.1.
    RefSeqi NP_068679.1. NM_021879.2.
    XP_006540762.1. XM_006540699.1.
    UniGenei Mm.137052.

    3D structure databases

    ProteinModelPortali Q62052.
    SMRi Q62052. Positions 309-521.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q62052.

    Proteomic databases

    PaxDbi Q62052.
    PRIDEi Q62052.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000032633 ; ENSMUSP00000032633 ; ENSMUSG00000030450 .
    GeneIDi 18431.
    KEGGi mmu:18431.
    UCSCi uc009hdy.1. mouse.

    Organism-specific databases

    CTDi 4948.
    MGIi MGI:97454. Oca2.

    Phylogenomic databases

    eggNOGi COG1055.
    GeneTreei ENSGT00390000017120.
    HOGENOMi HOG000047303.
    HOVERGENi HBG008343.
    InParanoidi Q0VBP9.
    OMAi QQVTHNW.
    OrthoDBi EOG738040.
    PhylomeDBi Q62052.
    TreeFami TF323556.

    Miscellaneous databases

    ChiTaRSi OCA2. mouse.
    NextBioi 294098.
    PROi Q62052.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q62052.
    Bgeei Q62052.
    CleanExi MM_OCA2.
    Genevestigatori Q62052.

    Family and domain databases

    InterProi IPR004680. Cit_transptr-like_dom.
    [Graphical view ]
    Pfami PF03600. CitMHS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes."
      Gardner J.M., Nakatsu Y., Gondo Y., Lee S., Lyon M.F., King R.A., Brilliant M.H.
      Science 257:1121-1124(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DISEASE.
      Strain: C57BL/6J.
      Tissue: Skin.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. "Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene."
      Rosemblat S., Durham-Pierre D., Gardner J.M., Nakatsu Y., Brilliant M.H., Orlow S.J.
      Proc. Natl. Acad. Sci. U.S.A. 91:12071-12075(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF PROTEIN PRODUCT, SUBCELLULAR LOCATION.
    4. "The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH."
      Brilliant M.H.
      Pigment Cell Res. 14:86-93(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    5. "Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1."
      Manga P., Orlow S.J.
      Pigment Cell Res. 14:362-367(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION OF MELANINE SYNTHESIS BY BAFILOMYCIN A1 ON P-NULL MELANOCYTES.
    6. "Pink-eyed dilution protein controls the processing of tyrosinase."
      Chen K., Manga P., Orlow S.J.
      Mol. Biol. Cell 13:1953-1964(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN POSTTRANSLATIONAL PROCESSING OF TYROSINASE.
    7. "Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism."
      Staleva L., Manga P., Orlow S.J.
      Mol. Biol. Cell 13:4206-4220(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN INTRACELLULAR GLUTATHIONE METABOLISM.

    Entry informationi

    Entry nameiP_MOUSE
    AccessioniPrimary (citable) accession number: Q62052
    Secondary accession number(s): Q0VBP9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 21, 2004
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 106 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3