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Q62052 (P_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
P protein
Alternative name(s):
Melanocyte-specific transporter protein
Pink-eyed dilution protein
Gene names
Name:Oca2
Synonyms:P
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length833 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.4

Subcellular location

Melanosome membrane; Multi-pass membrane protein Ref.3.

Tissue specificity

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. Ref.1

Involvement in disease

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. Ref.1

Sequence similarities

Belongs to the CitM (TC 2.A.11) transporter family. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 833833P protein
PRO_0000172510

Regions

Topological domain1 – 172172Cytoplasmic Potential
Transmembrane173 – 19321Helical; Potential
Topological domain194 – 325132Extracellular Potential
Transmembrane326 – 34621Helical; Potential
Topological domain347 – 3482Cytoplasmic Potential
Transmembrane349 – 36921Helical; Potential
Topological domain370 – 38112Extracellular Potential
Transmembrane382 – 40221Helical; Potential
Topological domain403 – 41715Cytoplasmic Potential
Transmembrane418 – 43821Helical; Potential
Topological domain439 – 50163Extracellular Potential
Transmembrane502 – 52221Helical; Potential
Topological domain523 – 61795Cytoplasmic Potential
Transmembrane618 – 63821Helical; Potential
Topological domain6391Extracellular Potential
Transmembrane640 – 66021Helical; Potential
Topological domain661 – 67515Cytoplasmic Potential
Transmembrane676 – 69621Helical; Potential
Topological domain697 – 71822Extracellular Potential
Transmembrane719 – 73921Helical; Potential
Topological domain740 – 75920Cytoplasmic Potential
Transmembrane760 – 78021Helical; Potential
Topological domain781 – 81030Extracellular Potential
Transmembrane811 – 83121Helical; Potential
Topological domain832 – 8332Cytoplasmic Potential
Compositional bias246 – 2505Poly-Val
Compositional bias259 – 2624Poly-Arg

Amino acid modifications

Glycosylation2101N-linked (GlcNAc...) Potential
Glycosylation2141N-linked (GlcNAc...) Potential
Glycosylation2691N-linked (GlcNAc...) Potential

Sequences

Sequence LengthMass (Da)Tools
Q62052 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 41B9F6491EFAFEE3

FASTA83391,869
        10         20         30         40         50         60 
MRLENKDIRL ASAVLEVELH QTSALSVPTC PDPGRLLTVK PATSNYKLGQ ADPCIPYAGE 

        70         80         90        100        110        120 
AAGKSVCVPE HTEFGSFLVK GSSSLKDLSF KEDTPLLWNS SQKKRSQLMP VHHPEFIATE 

       130        140        150        160        170        180 
GSWENGLTAW EQKCMLGKEV ADLSALASSE KRDLAGSVHL RAQVSKLGCC VRWIKITGLF 

       190        200        210        220        230        240 
VFVVLCSILF SLYPDQGKFW QLLAVSPLEN YSVNLSGHAD SMILQLDLAG ALMAGGPSGS 

       250        260        270        280        290        300 
GKEEHVVVVV TQTDAAGNRR RRPQQLTYNW TVLLNPRSEH VVVSRTFEIV SREAVSISIQ 

       310        320        330        340        350        360 
ASLQQTRLVP LLLAHQFLGA SVEAQVASAV AILAGVYTLI IFEIVHRTLA AMLGALAALA 

       370        380        390        400        410        420 
ALAVVGDRPS LTHVVEWIDF ETLALLFGMM ILVAVFSETG FFDYCAVKAY QLSRGRVWAM 

       430        440        450        460        470        480 
IFMLCLMAAI LSAFLDNVTT MLLFTPVTIR LCEVLNLDPR QVLIAEVIFT NIGGAATAIG 

       490        500        510        520        530        540 
DPPNVIIVSN QELRKMGLDF AGFTAHMFLG ICLVLLVSFP LLRLLYWNKK LYNKEPSEIV 

       550        560        570        580        590        600 
ELKHEIHVWR LTAQRISPAS REETAVRGLL LEKVLALEHL LAQRLHTFHR QISQEDKNWE 

       610        620        630        640        650        660 
TNIQELQRKH RISDRSLLVK CLTVLGFVIS MFFLNSFVPG IHLDLGWIAI LGAIWLLILA 

       670        680        690        700        710        720 
DIHDFEIILH RVEWATLLFF AALFVLMEAL THLHLVEYVG EQTALLIKMV PEDQRFAAAI 

       730        740        750        760        770        780 
VLIVWVSALA SSLIDNIPFT ATMIPVLLNL SQDPEISLPA LPLMYALALG ACLGGNGTLI 

       790        800        810        820        830 
GASTNVVCAG IAEKHGYGFS FMEFFRLGFP VMLMSCTIGM CYLLIAHIVV GWN 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Web resources

Protein Spotlight

Questioning colour - Issue 54 of January 2005

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M97900 mRNA. Translation: AAA39908.1.
BC119220 mRNA. Translation: AAI19221.1.
BC120549 mRNA. Translation: AAI20550.1.
CCDSCCDS21319.1.
RefSeqNP_068679.1. NM_021879.2.
XP_006540762.1. XM_006540699.1.
UniGeneMm.137052.

3D structure databases

ProteinModelPortalQ62052.
SMRQ62052. Positions 309-521.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ62052.

Proteomic databases

PaxDbQ62052.
PRIDEQ62052.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000032633; ENSMUSP00000032633; ENSMUSG00000030450.
GeneID18431.
KEGGmmu:18431.
UCSCuc009hdy.1. mouse.

Organism-specific databases

CTD4948.
MGIMGI:97454. Oca2.

Phylogenomic databases

eggNOGCOG1055.
GeneTreeENSGT00390000017120.
HOGENOMHOG000047303.
HOVERGENHBG008343.
InParanoidQ0VBP9.
OMAQQVTHNW.
OrthoDBEOG738040.
PhylomeDBQ62052.
TreeFamTF323556.

Gene expression databases

ArrayExpressQ62052.
BgeeQ62052.
CleanExMM_OCA2.
GenevestigatorQ62052.

Family and domain databases

InterProIPR004680. Cit_transptr-like_dom.
[Graphical view]
PfamPF03600. CitMHS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSOCA2. mouse.
NextBio294098.
PROQ62052.
SOURCESearch...

Entry information

Entry nameP_MOUSE
AccessionPrimary (citable) accession number: Q62052
Secondary accession number(s): Q0VBP9
Entry history
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: November 1, 1996
Last modified: July 9, 2014
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot