P protein - Mus musculus (Mouse)

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Q62052 (P_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 95. History...

Clusters with 100%, 90%, 50% identity |

Documents (3) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
P protein

Alternative name(s):
Melanocyte-specific transporter protein
Pink-eyed dilution protein

Gene names

Name:	Oca2
Synonyms:	P

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	833 AA.
Sequence status	Complete.
Protein existence	Evidence 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]

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane
Disease	Albinism
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell proliferation Inferred from mutant phenotype PubMed 9548375. Source: MGI melanin biosynthetic process Inferred from mutant phenotype PubMed 7665913 PubMed 9548375. Source: MGI melanocyte differentiation Inferred from mutant phenotype PubMed 2379821. Source: MGI spermatid development Inferred from mutant phenotype PubMed 7317942. Source: MGI transmembrane transport Inferred from electronic annotation. Source: InterPro
Cellular_component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: Compara endosome membrane Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW lysosomal membrane Inferred from electronic annotation. Source: Compara melanosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 833

833

P protein

PRO_0000172510

Regions

Topological domain

1 – 172

172

Cytoplasmic Potential

Transmembrane

173 – 193

Helical; Potential

Topological domain

194 – 325

132

Extracellular Potential

Transmembrane

326 – 346

Helical; Potential

Topological domain

347 – 348

Cytoplasmic Potential

Transmembrane

349 – 369

Helical; Potential

Topological domain

370 – 381

Extracellular Potential

Transmembrane

382 – 402

Helical; Potential

Topological domain

403 – 417

Cytoplasmic Potential

Transmembrane

418 – 438

Helical; Potential

Topological domain

439 – 501

Extracellular Potential

Transmembrane

502 – 522

Helical; Potential

Topological domain

523 – 617

Cytoplasmic Potential

Transmembrane

618 – 638

Helical; Potential

Topological domain

639

Extracellular Potential

Transmembrane

640 – 660

Helical; Potential

Topological domain

661 – 675

Cytoplasmic Potential

Transmembrane

676 – 696

Helical; Potential

Topological domain

697 – 718

Extracellular Potential

Transmembrane

719 – 739

Helical; Potential

Topological domain

740 – 759

Cytoplasmic Potential

Transmembrane

760 – 780

Helical; Potential

Topological domain

781 – 810

Extracellular Potential

Transmembrane

811 – 831

Helical; Potential

Topological domain

832 – 833

Cytoplasmic Potential

Compositional bias

246 – 250

Poly-Val

Compositional bias

259 – 262

Poly-Arg

Amino acid modifications

Modified residue

157

Phosphoserine Ref.8

Glycosylation

210

N-linked (GlcNAc...) Potential

Glycosylation

214

N-linked (GlcNAc...) Potential

Glycosylation

269

N-linked (GlcNAc...) Potential

Sequences

Sequence

Length

Mass (Da)

Tools

Q62052 [UniParc].

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

833

91,869

        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' referencesShow '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.
[8]	"Solid tumor proteome and phosphoproteome analysis by high resolution mass spectrometry." Zanivan S., Gnad F., Wickstroem S.A., Geiger T., Macek B., Cox J., Faessler R., Mann M. J. Proteome Res. 7:5314-5326(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-157, MASS SPECTROMETRY. Tissue: Melanoma.
+	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.
IPI	IPI00121030.
RefSeq	NP_068679.1. NM_021879.2.
UniGene	Mm.137052.
3D structure databases
ProteinModelPortal	Q62052.
SMR	Q62052. Positions 309-521.
ModBase	Search...
PTM databases
PhosphoSite	Q62052.
Proteomic databases
PaxDb	Q62052.
PRIDE	Q62052.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000032633; ENSMUSP00000032633; ENSMUSG00000030450.
GeneID	18431.
KEGG	mmu:18431.
UCSC	uc009hdy.1. mouse.
Organism-specific databases
CTD	4948.
MGI	MGI:97454. Oca2.
Phylogenomic databases
eggNOG	COG1055.
GeneTree	ENSGT00390000017120.
HOGENOM	HOG000047303.
HOVERGEN	HBG008343.
InParanoid	Q0VBP9.
OMA	RWRRPQQ.
OrthoDB	EOG42RD6R.
Gene expression databases
ArrayExpress	Q62052.
Bgee	Q62052.
CleanEx	MM_OCA2.
Genevestigator	Q62052.
GermOnline	ENSMUSG00000030450. Mus musculus.
Family and domain databases
InterPro	IPR000802. Arsenical_pump_ArsB. IPR004680. Cit_transptr-like_dom. [Graphical view]
Pfam	PF03600. CitMHS. 1 hit. [Graphical view]
TIGRFAMs	TIGR00935. 2a45. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	OCA2. mouse.
NextBio	294098.
SOURCE	Search...

Entry information

Entry name

P_MOUSE

Accession

Primary (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:	May 1, 2013
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Relevant documents

MGD cross-references

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

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents