(data stored in ACNUC23119 zone)

HOGENOM: MOUSE7_PE1872

ID   MOUSE7_PE1872                        STANDARD;      PRT;   833 AA.
AC   MOUSE7_PE1872; Q62052; Q0VBP9;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=P protein;AltName: Full=Melanocyte-specific transporter
DE   protein;AltName: Full=Pink-eyed dilution protein; (MOUSE7.PE1872).
GN   Name=Oca2; Synonyms=P;
OS   MUS MUSCULUS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae;
OC   Murinae; Mus.
OX   NCBI_TaxID=10090;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS MOUSE7.PE1872.
CC       Mus musculus chromosome 7 NCBIM37  sequence 1..152524553 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:P_MOUSE
CC   -!- FUNCTION: Could be involved in the transport of tyrosine, the
CC       precursor to melanin synthesis, within the melanocyte. Regulates
CC       the pH of melanosome and the melanosome maturation. One of the
CC       components of the mammalian pigmentary system. Seems to regulate
CC       the postranslational processing of tyrosinase, which catalyzes the
CC       limiting reaction in melanin synthesis. It can modulate
CC       intracellular glutathione metabolism.
CC   -!- SUBCELLULAR LOCATION: Melanosome membrane; Multi-pass membrane
CC       protein.
CC   -!- TISSUE SPECIFICITY: Most abundant in melanocytes. Also present in
CC       neonatal and adult eye tissue presumably as a result of expression
CC       in the retinal pigmented epithelium and choroid body, known sites
CC       of melanogenesis in the eye. Small but detectable amounts also
CC       observed in fetal, neonatal and adult brain. Moderate amounts
CC       detected in adult testis and ovary. Not detected in heart, kidney,
CC       spleen, liver or thymus.
CC   -!- DISEASE: Note=Defects in Oca2 are a cause of hypopigmentation of
CC       the eyes, skin, and fur. The protein is missing or altered in six
CC       independent mutant alleles of the OCA2 locus, suggesting that
CC       disruption of this gene results in hypopigmentation phenotype that
CC       defines mutant OCA2 alleles.
CC   -!- SIMILARITY: Belongs to the CitM (TC 2.A.11) transporter family.
CC   -!- WEB RESOURCE: Name=Protein Spotlight; Note=Questioning colour -
CC       Issue 54 of January 2005;
CC       URL="http://web.expasy.org/spotlight/back_issues/sptlt054.shtml";
CC   -!- GENE_FAMILY: HOG000047303 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Mus_musculus;ENSMUSG00000030450;ENSMUST00000032633;ENSMUSP00000032633.
DR   EMBL; AC102150; - ;
DR   EMBL; AC102220; - ;
DR   EMBL; AC102299; - ;
DR   EMBL; AC121900; - ;
DR   EMBL; BC119220; - ;
DR   EMBL; BC120549; - ;
DR   EMBL; M97900; - ;
DR   UniProtKB/Swiss-Prot; Q62052; Q0VBP9; -.
DR   EMBL; M97900; AAA39908.1; -; mRNA.
DR   EMBL; BC119220; AAI19221.1; -; mRNA.
DR   EMBL; BC120549; AAI20550.1; -; mRNA.
DR   IPI; IPI00121030; -.
DR   RefSeq; NP_068679.1; NM_021879.2.
DR   UniGene; Mm.137052; -.
DR   ProteinModelPortal; Q62052; -.
DR   STRING; Q62052; -.
DR   PhosphoSite; Q62052; -.
DR   PRIDE; Q62052; -.
DR   Ensembl; ENSMUST00000032633; ENSMUSP00000032633; ENSMUSG00000030450.
DR   GeneID; 18431; -.
DR   KEGG; mmu:18431; -.
DR   UCSC; uc009hdy.1; mouse.
DR   CTD; 4948; -.
DR   MGI; MGI:97454; Oca2.
DR   GeneTree; ENSGT00390000017120; -.
DR   InParanoid; Q62052; -.
DR   OMA; PQQVTHN; -.
DR   OrthoDB; EOG42RD6R; -.
DR   PhylomeDB; Q62052; -.
DR   NextBio; 294098; -.
DR   ArrayExpress; Q62052; -.
DR   Bgee; Q62052; -.
DR   CleanEx; MM_OCA2; -.
DR   Genevestigator; Q62052; -.
DR   GermOnline; ENSMUSG00000030450; Mus musculus.
DR   GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR   GO; GO:0033162; C:melanosome membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0015105; F:arsenite transmembrane transporter activity; IEA:InterPro.
DR   GO; GO:0015137; F:citrate transmembrane transporter activity; IEA:InterPro.
DR   GO; GO:0008283; P:cell proliferation; IMP:MGI.
DR   GO; GO:0042438; P:melanin biosynthetic process; IMP:MGI.
DR   GO; GO:0030318; P:melanocyte differentiation; IMP:MGI.
DR   GO; GO:0007286; P:spermatid development; IMP:MGI.
DR   InterPro; IPR000802; Arsenical_pump_ArsB.
DR   InterPro; IPR004680; Divalent_ion_symporter.
DR   Pfam; PF03600; CitMHS; 1.
DR   TIGRFAMs; TIGR00935; 2a45; 1.
DR   HOGENOMDNA; MOUSE7.PE1872; -.
KW   ENSMUSG000000304505old_1320000031; ENSMUSP000000326331old_1320000031;
KW   D3Z251_MOUSE; AC102150; AC102220; AC102299; AC121900; BC119220; BC120549;
KW   M97900;
KW   Albinism; Complete proteome; Glycoprotein; Membrane; Phosphoprotein;
KW   Reference proteome; Transmembrane; Transmembrane helix; Transport.
SQ   SEQUENCE   833 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MRLENKDIRL ASAVLEVELH QTSALSVPTC PDPGRLLTVK PATSNYKLGQ ADPCIPYAGE
     AAGKSVCVPE HTEFGSFLVK GSSSLKDLSF KEDTPLLWNS SQKKRSQLMP VHHPEFIATE
     GSWENGLTAW EQKCMLGKEV ADLSALASSE KRDLAGSVHL RAQVSKLGCC VRWIKITGLF
     VFVVLCSILF SLYPDQGKFW QLLAVSPLEN YSVNLSGHAD SMILQLDLAG ALMAGGPSGS
     GKEEHVVVVV TQTDAAGNRR RRPQQLTYNW TVLLNPRSEH VVVSRTFEIV SREAVSISIQ
     ASLQQTRLVP LLLAHQFLGA SVEAQVASAV AILAGVYTLI IFEIVHRTLA AMLGALAALA
     ALAVVGDRPS LTHVVEWIDF ETLALLFGMM ILVAVFSETG FFDYCAVKAY QLSRGRVWAM
     IFMLCLMAAI LSAFLDNVTT MLLFTPVTIR LCEVLNLDPR QVLIAEVIFT NIGGAATAIG
     DPPNVIIVSN QELRKMGLDF AGFTAHMFLG ICLVLLVSFP LLRLLYWNKK LYNKEPSEIV
     ELKHEIHVWR LTAQRISPAS REETAVRGLL LEKVLALEHL LAQRLHTFHR QISQEDKNWE
     TNIQELQRKH RISDRSLLVK CLTVLGFVIS MFFLNSFVPG IHLDLGWIAI LGAIWLLILA
     DIHDFEIILH RVEWATLLFF AALFVLMEAL THLHLVEYVG EQTALLIKMV PEDQRFAAAI
     VLIVWVSALA SSLIDNIPFT ATMIPVLLNL SQDPEISLPA LPLMYALALG ACLGGNGTLI
     GASTNVVCAG IAEKHGYGFS FMEFFRLGFP VMLMSCTIGM CYLLIAHIVV GWN
//

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