(data stored in ACNUC23119 zone)

HOGENOM: HS15_PE79

ID   HS15_PE79                            STANDARD;      PRT;   838 AA.
AC   HS15_PE79; Q04671; Q15211; Q15212; Q96EN1; Q9UMI5;
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 homolog; (HS15.PE79).
GN   Name=OCA2; Synonyms=D15S12, P;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS15.PE79.
CC       Homo sapiens chromosome 15 GRCh37  sequence 1..102521392 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:P_HUMAN
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 post-translational processing of tyrosinase, which catalyzes
CC       the limiting reaction in melanin synthesis. May serve as a key
CC       control point at which ethnic skin color variation is determined.
CC       Major determinant of brown and/or blue eye color.
CC   -!- SUBCELLULAR LOCATION: Melanosome membrane; Multi-pass membrane
CC       protein.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q04671-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q04671-2; Sequence=VSP_012284;
CC       Name=3;
CC         IsoId=Q04671-3; Sequence=VSP_012285, VSP_012286;
CC         Note=No experimental confirmation available;
CC   -!- INDUCTION: Expression inhibited by a regulatory element found
CC       within an intron of the HERC2 gene.
CC   -!- POLYMORPHISM: Genetic variations in OCA2 are associated with
CC       skin/hair/eye pigmentation variability type 1 (SHEP1)
CC       [MIM:227220]; also known as skin/hair/eye pigmentation type 1,
CC       blue/nonblue eyes or skin/hair/eye pigmentation type 1, blue/brown
CC       eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye
CC       color, brown/blue or eye color, blue/nonblue or eye color type 3
CC       (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3
CC       (HCL3). Hair, eye and skin pigmentation are among the most visible
CC       examples of human phenotypic variation, with a broad normal range
CC       that is subject to substantial geographic stratification. In the
CC       case of skin, individuals tend to have lighter pigmentation with
CC       increasing distance from the equator. By contrast, the majority of
CC       variation in human eye and hair color is found among individuals
CC       of European ancestry, with most other human populations fixed for
CC       brown eyes and black hair. OCA2 polymorphisms may act as a
CC       penetrance modifier of the risk of malignant melanoma.
CC   -!- DISEASE: Defects in OCA2 are the cause of albinism oculocutaneous
CC       type 2 (OCA2) [MIM:203200]. An autosomal recessive disorder in
CC       which the biosynthesis of melanin pigment is reduced in skin,
CC       hair, and eyes. Although affected infants may appear at birth to
CC       have complete absence of melanin pigment, most patients acquire
CC       small amounts of pigment with age. Visual anomalies include
CC       decreased acuity and nystagmus. The phenotype is highly variable.
CC       The hair of affected individuals may turn darker with age, and
CC       pigmented nevi or freckles may be seen. African and African
CC       American individuals may have yellow hair and blue-gray or hazel
CC       irides. One phenotypic variant, 'brown OCA,' has been described in
CC       African and African American populations and is characterized by
CC       light brown hair and skin color and gray to tan irides.
CC   -!- SIMILARITY: Belongs to the CitM (TC 2.A.11) transporter family.
CC   -!- WEB RESOURCE: Name=Mutations of the P gene; Note=Retina
CC       International's Scientific Newsletter;
CC       URL="http://www.retina-international.com/sci-news/pgenemut.htm";
CC   -!- WEB RESOURCE: Name=Albinism database (ADB); Note=P mutations;
CC       URL="http://albinismdb.med.umn.edu/oca2mut.html";
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   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OCA2";
CC   -!- GENE_FAMILY: HOG000047303 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000104044;ENST00000354638;ENSP00000346659.
DR   EMBL; AC079090; - ;
DR   EMBL; AC090696; - ;
DR   EMBL; AC124091; - ;
DR   EMBL; AC135329; - ;
DR   EMBL; BC012097; - ;
DR   EMBL; M97901; - ;
DR   EMBL; M99564; - ;
DR   EMBL; U19153; - ;
DR   EMBL; U19154; - ;
DR   EMBL; U19155; - ;
DR   EMBL; U19156; - ;
DR   EMBL; U19157; - ;
DR   EMBL; U19158; - ;
DR   EMBL; U19159; - ;
DR   EMBL; U19160; - ;
DR   EMBL; U19161; - ;
DR   EMBL; U19162; - ;
DR   EMBL; U19163; - ;
DR   EMBL; U19164; - ;
DR   EMBL; U19165; - ;
DR   EMBL; U19166; - ;
DR   EMBL; U19167; - ;
DR   EMBL; U19168; - ;
DR   EMBL; U19169; - ;
DR   EMBL; U19170; - ;
DR   EMBL; U19171; - ;
DR   EMBL; U19172; - ;
DR   EMBL; U19173; - ;
DR   EMBL; U19174; - ;
DR   EMBL; U19175; - ;
DR   EMBL; U19176; - ;
DR   UniProtKB/Swiss-Prot; Q04671; Q15211; Q15212; Q96EN1; Q9UMI5; -.
DR   EMBL; M99564; AAA36477.1; -; mRNA.
DR   EMBL; U19170; AAC13783.1; -; Genomic_DNA.
DR   EMBL; U19153; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19154; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19156; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19158; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19160; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19162; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19164; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19166; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19169; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19168; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19167; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19165; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19163; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19161; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19159; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19157; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19155; AAC13783.1; JOINED; Genomic_DNA.
DR   EMBL; U19176; AAC13784.1; -; Genomic_DNA.
DR   EMBL; U19153; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19154; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19155; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19157; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19158; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19159; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19160; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19161; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19162; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19163; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19164; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19165; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19166; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19167; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19168; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19169; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19171; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19172; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19173; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19174; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; U19175; AAC13784.1; JOINED; Genomic_DNA.
DR   EMBL; BC012097; AAH12097.1; -; mRNA.
DR   EMBL; M97901; AAA36430.1; -; mRNA.
DR   IPI; IPI00028627; -.
DR   IPI; IPI00150205; -.
DR   IPI; IPI00513686; -.
DR   PIR; A57173; A57173.
DR   PIR; S28911; S28911.
DR   RefSeq; NP_000266.2; NM_000275.2.
DR   UniGene; Hs.654411; -.
DR   ProteinModelPortal; Q04671; -.
DR   STRING; Q04671; -.
DR   TCDB; 2.A.45.2.1; arsenite-antimonite (ArsB) efflux family.
DR   PhosphoSite; Q04671; -.
DR   PRIDE; Q04671; -.
DR   Ensembl; ENST00000354638; ENSP00000346659; ENSG00000104044.
DR   GeneID; 4948; -.
DR   KEGG; hsa:4948; -.
DR   UCSC; uc001zbh.2; human.
DR   UCSC; uc010ayv.1; human.
DR   CTD; 4948; -.
DR   GeneCards; GC15M006126; -.
DR   H-InvDB; HIX0012054; -.
DR   HGNC; HGNC:8101; OCA2.
DR   HPA; HPA036403; -.
DR   MIM; 203200; phenotype.
DR   MIM; 227220; phenotype.
DR   MIM; 611409; gene.
DR   neXtProt; NX_Q04671; -.
DR   Orphanet; 79432; Oculocutaneous albinism type 2.
DR   Orphanet; 739; Prader-Willi syndrome.
DR   PharmGKB; PA31890; -.
DR   eggNOG; prNOG11543; -.
DR   GeneTree; ENSGT00390000017120; -.
DR   InParanoid; Q04671; -.
DR   OMA; PQQVTHN; -.
DR   OrthoDB; EOG42RD6R; -.
DR   PhylomeDB; Q04671; -.
DR   NextBio; 19061; -.
DR   ArrayExpress; Q04671; -.
DR   Bgee; Q04671; -.
DR   CleanEx; HS_OCA2; -.
DR   Genevestigator; Q04671; -.
DR   GermOnline; ENSG00000104044; Homo sapiens.
DR   GO; GO:0005789; C:endoplasmic reticulum membrane; IDA:UniProtKB.
DR   GO; GO:0010008; C:endosome membrane; IDA:UniProtKB.
DR   GO; GO:0016021; C:integral to membrane; TAS:ProtInc.
DR   GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR   GO; GO:0033162; C:melanosome membrane; IDA:UniProtKB.
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:0005302; F:L-tyrosine transmembrane transporter activity; TAS:ProtInc.
DR   GO; GO:0005515; F:protein binding; IPI:UniProtKB.
DR   GO; GO:0006726; P:eye pigment biosynthetic process; TAS:ProtInc.
DR   InterPro; IPR000802; Arsenical_pump_ArsB.
DR   InterPro; IPR004680; Divalent_ion_symporter.
DR   Pfam; PF03600; CitMHS; 1.
DR   TIGRFAMs; TIGR00935; 2a45; 1.
DR   HOGENOMDNA; HS15.PE79; -.
KW   ENSG000001040441755old_1320000031; ENSP000003466597901old_1320000031;
KW   C9JDV3_HUMAN; AC079090; AC090696; AC124091; AC135329; BC012097; M97901;
KW   U19153; U19154; U19155; U19156; U19157; U19158; U19159; U19160; U19161;
KW   U19163; U19164; U19165; U19166; U19167; U19168; U19169; U19170; U19171;
KW   U19173; U19174; U19175; U19176;
KW   Albinism; Alternative splicing; Complete proteome; Disease mutation;
KW   Glycoprotein; Membrane; Phosphoprotein; Polymorphism;
KW   Reference proteome; Transmembrane; Transmembrane helix; Transport.
SQ   SEQUENCE   838 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS CPRGAAGQSS
     WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF
     ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV
     MGLFAFVVLC SILFSLYPDQ GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG
     PSRPGREEHI VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV
     SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV HRTLAAMLGS
     LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI FSETGFFDYC AVKAYRLSRG
     RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA
     ATAIGDPPNV IIVSNQELRK MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE
     PSEIVELKHE IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE
     DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL GWIAILGAIW
     LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL IEYVGEQTAL LIKMVPEEQR
     LIAAIVLVVW VSALASSLID NIPFTATMIP VLLNLSHDPE VGLPAPPLMY ALAFGACLGG
     NGTLIGASAN VVCAGIAEQH GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN
//

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