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| Accession Number: | Q04671 |
| Protein Name: | P aka OCA2 |
| Length: | 838 |
| Molecular Weight: | 92850.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 14 |
| Location1 / Topology2 / Orientation3: | Melanosome membrane1 / Multi-pass membrane protein2 |
| Substrate | anion, tyrosine |
Cross database links:
| RefSeq: | NP_000266.2 |
|---|---|
| Entrez Gene ID: | 4948 |
| Pfam: | PF03600 |
| OMIM: |
203200 phenotype 227220 phenotype 611409 gene |
| KEGG: | hsa:4948 |
Gene Ontology
GO:0016021
C:integral to membrane
GO:0033162
C:melanosome membrane
GO:0015105
F:arsenite transmembrane transporter activity
GO:0015137
F:citrate transmembrane transporter activity
GO:0005302
F:L-tyrosine transmembrane transporter activity
GO:0015746
P:citrate transport
GO:0006726
P:eye pigment biosynthetic process
GO:0055085
P:transmembrane transport
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References (26)[1] “A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.” Rinchik E.M.et.al. 8421497 [2] “Organization and sequence of the human P gene and identification of a new family of transport proteins.” Lee S.-T.et.al. 7601462 [3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [4] “The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.” Gardner J.M.et.al. 1509264 [5] “The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.” Brilliant M.H.et.al. 11310796 [6] “Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1.” Manga P.et.al. 11601658 [7] “Eye colour: portals into pigmentation genes and ancestry.” Sturm R.A.et.al. 15262401 [8] “Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.” Oetting W.S.et.al. 10094567 [9] “Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).” Lee S.-T.et.al. 7874125 [10] “Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).” Spritz R.A.et.al. 7762554 [11] “Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).” Spritz R.A.et.al. 9259203 [12] “Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2).” Oetting W.S.et.al. 10671067 [13] “Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.” Passmore L.A.et.al. 10987646 [14] “Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.” Kerr R.et.al. 10649493 [15] “P gene as an inherited biomarker of human eye color.” Rebbeck T.R.et.al. 12163334 [16] “MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).” King R.A.et.al. 12876664 [17] “A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).” Kato A.et.al. 12727022 [18] “Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.” Suzuki T.et.al. 12713581 [19] “Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.” Jannot A.-S.et.al. 15889046 [20] “A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.” Duffy D.L.et.al. 17236130 [21] “The consensus coding sequences of human breast and colorectal cancers.” Sjoeblom T.et.al. 16959974 [22] “Genetic determinants of hair, eye and skin pigmentation in Europeans.” Sulem P.et.al. 17952075 [23] “Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.” Hongyi L.et.al. 17385796 [24] “Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.” Kayser M.et.al. 18252221 [25] “A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.” Sturm R.A.et.al. 18252222 [26] “Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.” Eiberg H.et.al. 18172690
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External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS CPRGAAGQSS 61: WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF 121: ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV 181: MGLFAFVVLC SILFSLYPDQ GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG 241: PSRPGREEHI VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV 301: SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV HRTLAAMLGS 361: LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI FSETGFFDYC AVKAYRLSRG 421: RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA 481: ATAIGDPPNV IIVSNQELRK MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE 541: PSEIVELKHE IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE 601: DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL GWIAILGAIW 661: LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL IEYVGEQTAL LIKMVPEEQR 721: LIAAIVLVVW VSALASSLID NIPFTATMIP VLLNLSHDPE VGLPAPPLMY ALAFGACLGG 781: NGTLIGASAN VVCAGIAEQH GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN