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Protein

P protein

Gene

Oca2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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
Complete GO annotation...

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 Componenti: Chromosome 7

Organism-specific databases

MGIiMGI:97454. Oca2.

Subcellular locationi

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 172172CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei173 – 19321HelicalSequence AnalysisAdd
BLAST
Topological domaini194 – 325132ExtracellularSequence AnalysisAdd
BLAST
Transmembranei326 – 34621HelicalSequence AnalysisAdd
BLAST
Topological domaini347 – 3482CytoplasmicSequence Analysis
Transmembranei349 – 36921HelicalSequence AnalysisAdd
BLAST
Topological domaini370 – 38112ExtracellularSequence AnalysisAdd
BLAST
Transmembranei382 – 40221HelicalSequence AnalysisAdd
BLAST
Topological domaini403 – 41715CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei418 – 43821HelicalSequence AnalysisAdd
BLAST
Topological domaini439 – 50163ExtracellularSequence AnalysisAdd
BLAST
Transmembranei502 – 52221HelicalSequence AnalysisAdd
BLAST
Topological domaini523 – 61795CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei618 – 63821HelicalSequence AnalysisAdd
BLAST
Topological domaini639 – 6391ExtracellularSequence Analysis
Transmembranei640 – 66021HelicalSequence AnalysisAdd
BLAST
Topological domaini661 – 67515CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei676 – 69621HelicalSequence AnalysisAdd
BLAST
Topological domaini697 – 71822ExtracellularSequence AnalysisAdd
BLAST
Transmembranei719 – 73921HelicalSequence AnalysisAdd
BLAST
Topological domaini740 – 75920CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei760 – 78021HelicalSequence AnalysisAdd
BLAST
Topological domaini781 – 81030ExtracellularSequence AnalysisAdd
BLAST
Transmembranei811 – 83121HelicalSequence AnalysisAdd
BLAST
Topological domaini832 – 8332CytoplasmicSequence Analysis

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: MGI
  2. endosome membrane Source: MGI
  3. integral component of membrane Source: UniProtKB-KW
  4. lysosomal membrane Source: MGI
  5. melanosome membrane Source: MGI
Complete GO annotation...

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.

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

BgeeiQ62052.
CleanExiMM_OCA2.
ExpressionAtlasiQ62052. baseline and differential.
GenevestigatoriQ62052.

Structurei

3D structure databases

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

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.
InParanoidiQ62052.
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

        10         20         30         40         50
MRLENKDIRL ASAVLEVELH QTSALSVPTC PDPGRLLTVK PATSNYKLGQ
60 70 80 90 100
ADPCIPYAGE AAGKSVCVPE HTEFGSFLVK GSSSLKDLSF KEDTPLLWNS
110 120 130 140 150
SQKKRSQLMP VHHPEFIATE GSWENGLTAW EQKCMLGKEV ADLSALASSE
160 170 180 190 200
KRDLAGSVHL RAQVSKLGCC VRWIKITGLF VFVVLCSILF SLYPDQGKFW
210 220 230 240 250
QLLAVSPLEN YSVNLSGHAD SMILQLDLAG ALMAGGPSGS GKEEHVVVVV
260 270 280 290 300
TQTDAAGNRR RRPQQLTYNW TVLLNPRSEH VVVSRTFEIV SREAVSISIQ
310 320 330 340 350
ASLQQTRLVP LLLAHQFLGA SVEAQVASAV AILAGVYTLI IFEIVHRTLA
360 370 380 390 400
AMLGALAALA ALAVVGDRPS LTHVVEWIDF ETLALLFGMM ILVAVFSETG
410 420 430 440 450
FFDYCAVKAY QLSRGRVWAM IFMLCLMAAI LSAFLDNVTT MLLFTPVTIR
460 470 480 490 500
LCEVLNLDPR QVLIAEVIFT NIGGAATAIG DPPNVIIVSN QELRKMGLDF
510 520 530 540 550
AGFTAHMFLG ICLVLLVSFP LLRLLYWNKK LYNKEPSEIV ELKHEIHVWR
560 570 580 590 600
LTAQRISPAS REETAVRGLL LEKVLALEHL LAQRLHTFHR QISQEDKNWE
610 620 630 640 650
TNIQELQRKH RISDRSLLVK CLTVLGFVIS MFFLNSFVPG IHLDLGWIAI
660 670 680 690 700
LGAIWLLILA DIHDFEIILH RVEWATLLFF AALFVLMEAL THLHLVEYVG
710 720 730 740 750
EQTALLIKMV PEDQRFAAAI VLIVWVSALA SSLIDNIPFT ATMIPVLLNL
760 770 780 790 800
SQDPEISLPA LPLMYALALG ACLGGNGTLI GASTNVVCAG IAEKHGYGFS
810 820 830
FMEFFRLGFP VMLMSCTIGM CYLLIAHIVV GWN
Length:833
Mass (Da):91,869
Last modified:November 1, 1996 - v1
Checksum:i41B9F6491EFAFEE3
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

PTM databases

PhosphoSiteiQ62052.

Proteomic databases

PaxDbiQ62052.
PRIDEiQ62052.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4948.
MGIiMGI:97454. Oca2.

Phylogenomic databases

eggNOGiCOG1055.
GeneTreeiENSGT00390000017120.
HOGENOMiHOG000047303.
HOVERGENiHBG008343.
InParanoidiQ62052.
OMAiQQVTHNW.
OrthoDBiEOG738040.
PhylomeDBiQ62052.
TreeFamiTF323556.

Miscellaneous databases

ChiTaRSiOca2. mouse.
NextBioi294098.
PROiQ62052.
SOURCEiSearch...

Gene expression databases

BgeeiQ62052.
CleanExiMM_OCA2.
ExpressionAtlasiQ62052. baseline and differential.
GenevestigatoriQ62052.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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: April 1, 2015
This is version 111 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.