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Protein

P protein

Gene

OCA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.5 Publications

GO - Molecular functioni

  • L-tyrosine transmembrane transporter activity Source: ProtInc
  • transporter activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:HS02540-MONOMER.
ReactomeiR-HSA-5662702. Melanin biosynthesis.

Protein family/group databases

TCDBi2.A.45.2.1. the arsenite-antimonite (arsb) efflux family.

Names & Taxonomyi

Protein namesi
Recommended name:
P protein
Alternative name(s):
Melanocyte-specific transporter protein
Pink-eyed dilution protein homolog
Gene namesi
Name:OCA2
Synonyms:D15S12, P
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:8101. OCA2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 179CytoplasmicSequence analysisAdd BLAST179
Transmembranei180 – 197HelicalSequence analysisAdd BLAST18
Topological domaini198 – 330ExtracellularSequence analysisAdd BLAST133
Transmembranei331 – 347HelicalSequence analysisAdd BLAST17
Topological domaini348 – 353CytoplasmicSequence analysis6
Transmembranei354 – 370HelicalSequence analysisAdd BLAST17
Topological domaini371 – 384ExtracellularSequence analysisAdd BLAST14
Transmembranei385 – 401HelicalSequence analysisAdd BLAST17
Topological domaini402 – 423CytoplasmicSequence analysisAdd BLAST22
Transmembranei424 – 440HelicalSequence analysisAdd BLAST17
Topological domaini441 – 513ExtracellularSequence analysisAdd BLAST73
Transmembranei514 – 530HelicalSequence analysisAdd BLAST17
Topological domaini531 – 620CytoplasmicSequence analysisAdd BLAST90
Transmembranei621 – 637HelicalSequence analysisAdd BLAST17
Topological domaini638 – 647ExtracellularSequence analysis10
Transmembranei648 – 664HelicalSequence analysisAdd BLAST17
Topological domaini665 – 679CytoplasmicSequence analysisAdd BLAST15
Transmembranei680 – 696HelicalSequence analysisAdd BLAST17
Topological domaini697 – 720ExtracellularSequence analysisAdd BLAST24
Transmembranei721 – 737HelicalSequence analysisAdd BLAST17
Topological domaini738 – 760CytoplasmicSequence analysisAdd BLAST23
Transmembranei761 – 777HelicalSequence analysisAdd BLAST17
Topological domaini778 – 817ExtracellularSequence analysisAdd BLAST40
Transmembranei818 – 834HelicalSequence analysisAdd BLAST17
Topological domaini835 – 838CytoplasmicSequence analysis4

GO - Cellular componenti

  • cytoplasm Source: ProtInc
  • endoplasmic reticulum membrane Source: UniProtKB
  • endosome membrane Source: UniProtKB
  • integral component of membrane Source: ProtInc
  • lysosomal membrane Source: UniProtKB
  • melanosome membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Albinism, oculocutaneous, 2 (OCA2)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.
See also OMIM:203200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02062210R → W in OCA2. 1 PublicationCorresponds to variant rs554862186dbSNPEnsembl.1
Natural variantiVAR_00611727G → R in OCA2. Corresponds to variant rs61738394dbSNPEnsembl.1
Natural variantiVAR_00611886S → R in OCA2. 1 PublicationCorresponds to variant rs772243109dbSNPEnsembl.1
Natural variantiVAR_006119112C → F in OCA2. 1 PublicationCorresponds to variant rs562649990dbSNPEnsembl.1
Natural variantiVAR_020623198P → L in OCA2. 1 PublicationCorresponds to variant rs183487020dbSNPEnsembl.1
Natural variantiVAR_006120206 – 211Missing in OCA2; severe. 6
Natural variantiVAR_020624211P → L in OCA2. 1 PublicationCorresponds to variant rs190612616dbSNPEnsembl.1
Natural variantiVAR_006122273 – 274NW → KV in OCA2. 2
Natural variantiVAR_020625290R → G in OCA2. 2 PublicationsCorresponds to variant rs769408559dbSNPEnsembl.1
Natural variantiVAR_020626334A → V in OCA2. 1 PublicationCorresponds to variant rs121918168dbSNPEnsembl.1
Natural variantiVAR_006124368A → V in OCA2. 1 PublicationCorresponds to variant rs61745150dbSNPEnsembl.1
Natural variantiVAR_006125385F → I in OCA2; severe. Corresponds to variant rs137956605dbSNPEnsembl.1
Natural variantiVAR_020630394M → I in OCA2. 1 PublicationCorresponds to variant rs121918171dbSNPEnsembl.1
Natural variantiVAR_006126395M → L in OCA2; severe. Corresponds to variant rs757286784dbSNPEnsembl.1
Natural variantiVAR_006127404T → M in OCA2. 1 PublicationCorresponds to variant rs144812594dbSNPEnsembl.1
Natural variantiVAR_006129419R → W in OCA2. 1 PublicationCorresponds to variant rs143218168dbSNPEnsembl.1
Natural variantiVAR_006130425Missing in OCA2; mild. 1
Natural variantiVAR_006132443V → I in OCA2. 3 PublicationsCorresponds to variant rs28934272dbSNPEnsembl.1
Natural variantiVAR_006133446M → V in OCA2; mild; AROA form. Corresponds to variant rs140566426dbSNPEnsembl.1
Natural variantiVAR_006134473I → S in OCA2. 1
Natural variantiVAR_043700476N → D in OCA2. 1 Publication1
Natural variantiVAR_007940481A → T in OCA2. 2 PublicationsCorresponds to variant rs74653330dbSNPEnsembl.1
Natural variantiVAR_006135489N → D in OCA2; mild/severe. 1 PublicationCorresponds to variant rs121918170dbSNPEnsembl.1
Natural variantiVAR_006136549H → Q in OCA2. 1
Natural variantiVAR_006137592T → I in OCA2. 1 PublicationCorresponds to variant rs1800413dbSNPEnsembl.1
Natural variantiVAR_020631614K → E in OCA2. 1 Publication1
Natural variantiVAR_006138614K → N in OCA2. 1
Natural variantiVAR_020632617I → L in OCA2. 1 PublicationCorresponds to variant rs763016773dbSNPEnsembl.1
Natural variantiVAR_072600633V → I in OCA2. 1 Publication1
Natural variantiVAR_006140652W → R in OCA2. 1
Natural variantiVAR_020634679W → C in OCA2. 3 PublicationsCorresponds to variant rs121918169dbSNPEnsembl.1
Natural variantiVAR_006141679W → R in OCA2; severe. Corresponds to variant rs751822606dbSNPEnsembl.1
Natural variantiVAR_072601684F → C in OCA2. 1 PublicationCorresponds to variant rs772754008dbSNPEnsembl.1
Natural variantiVAR_020636720R → C in OCA2. 1 PublicationCorresponds to variant rs141545475dbSNPEnsembl.1
Natural variantiVAR_006143724A → P in OCA2. 1 Publication1
Natural variantiVAR_006144736S → L in OCA2. Corresponds to variant rs780296175dbSNPEnsembl.1
Natural variantiVAR_006145743P → L in OCA2 and unclassified OCA. 2 PublicationsCorresponds to variant rs121918167dbSNPEnsembl.1
Natural variantiVAR_043701775G → R in OCA2. 1 Publication1
Natural variantiVAR_006146787A → V in OCA2. 1 PublicationCorresponds to variant rs200457227dbSNPEnsembl.1
Natural variantiVAR_020637795G → R in OCA2. 1 Publication1
Natural variantiVAR_020638799Q → H in OCA2. 1 Publication1
Natural variantiVAR_043702827Y → H in OCA2. 1 Publication1
Natural variantiVAR_021682833Missing in OCA2. 1 Publication1

Keywords - Diseasei

Albinism, Disease mutation

Organism-specific databases

DisGeNETi4948.
MalaCardsiOCA2.
MIMi203200. phenotype.
227220. phenotype.
OpenTargetsiENSG00000104044.
Orphaneti72. Angelman syndrome.
79432. Oculocutaneous albinism type 2.
98754. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
177901. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
177904. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
PharmGKBiPA31890.

Polymorphism and mutation databases

BioMutaiOCA2.
DMDMi90110050.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001725091 – 838P proteinAdd BLAST838

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi214N-linked (GlcNAc...)Sequence analysis1
Glycosylationi218N-linked (GlcNAc...)Sequence analysis1
Glycosylationi273N-linked (GlcNAc...)Sequence analysis1
Glycosylationi442N-linked (GlcNAc...)Sequence analysis1
Glycosylationi781N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ04671.
PeptideAtlasiQ04671.
PRIDEiQ04671.

PTM databases

iPTMnetiQ04671.
PhosphoSitePlusiQ04671.

Expressioni

Inductioni

Expression is under the control of an enhancer element that is encoded in an intron of the close-by HERC2 gene. The enhancer element containing the T-allele of the polymorphism rs12913832 mediates binding of the transcription factors HLTF, LEF1 and MITF and increases OCA2 expression. In contrast, transcription factor binding and OCA2 expression are reduced in carriers of the C-allele of polymorphism rs12913832. Thus, people homozygous for the C-allele have light-colored eyes, while people homozygous for the T-allele of polymorphism rs12913832 most often have brown eyes.3 Publications

Gene expression databases

BgeeiENSG00000104044.
CleanExiHS_OCA2.
ExpressionAtlasiQ04671. baseline and differential.
GenevisibleiQ04671. HS.

Organism-specific databases

HPAiHPA036403.

Interactioni

Protein-protein interaction databases

BioGridi111002. 3 interactors.
IntActiQ04671. 1 interactor.
STRINGi9606.ENSP00000346659.

Structurei

3D structure databases

ProteinModelPortaliQ04671.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2639. Eukaryota.
COG1055. LUCA.
GeneTreeiENSGT00390000017120.
HOGENOMiHOG000047303.
HOVERGENiHBG008343.
InParanoidiQ04671.
OMAiQVTHNWT.
OrthoDBiEOG091G03O6.
PhylomeDBiQ04671.
TreeFamiTF323556.

Family and domain databases

InterProiIPR004680. Cit_transptr-like_dom.
[Graphical view]
PfamiPF03600. CitMHS. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q04671-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MHLEGRDGRR YPGAPAVELL QTSVPSGLAE LVAGKRRLPR GAGGADPSHS
60 70 80 90 100
CPRGAAGQSS WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL
110 120 130 140 150
LRNSLQEKGS RCIPVYHPEF ITAEESWEDS SADWERRYLL SREVSGLSAS
160 170 180 190 200
ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV MGLFAFVVLC SILFSLYPDQ
210 220 230 240 250
GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG PSRPGREEHI
260 270 280 290 300
VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV
310 320 330 340 350
SISIRASLQQ TQAVPLLMAH QYLRGSVETQ VTIATAILAG VYALIIFEIV
360 370 380 390 400
HRTLAAMLGS LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI
410 420 430 440 450
FSETGFFDYC AVKAYRLSRG RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT
460 470 480 490 500
PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA ATAIGDPPNV IIVSNQELRK
510 520 530 540 550
MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE PSEIVELKHE
560 570 580 590 600
IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLARRL HTFHRQISQE
610 620 630 640 650
DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFVIFMFFLN SFVPGIHLDL
660 670 680 690 700
GWIAILGAIW LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL
710 720 730 740 750
IEYVGEQTAL LIKMVPEEQR LIAAIVLVVW VSALASSLID NIPFTATMIP
760 770 780 790 800
VLLNLSHDPE VGLPAPPLMY ALAFGACLGG NGTLIGASAN VVCAGIAEQH
810 820 830
GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN
Length:838
Mass (Da):92,850
Last modified:March 21, 2006 - v2
Checksum:iA6158B9E55BD7199
GO
Isoform 2 (identifier: Q04671-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     349-372: Missing.

Show »
Length:814
Mass (Da):90,520
Checksum:i3AFFDD314F878F2A
GO
Isoform 3 (identifier: Q04671-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     652-668: WIAILGAIWLLILADIH → GLGLVQAGRYYLSTPES
     669-838: Missing.

Note: No experimental confirmation available.
Show »
Length:668
Mass (Da):74,312
Checksum:iA6E50C6F1276BC4F
GO

Polymorphismi

Genetic variants in OCA2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1) [MIMi:227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue eyes or skin/hair/eye pigmentation type 1, blue/brown eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye color, brown/blue or eye color, blue/nonblue or eye color type 3 (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3 (HCL3). Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. OCA2 polymorphisms may act as a penetrance modifier of the risk of malignant melanoma.5 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02062210R → W in OCA2. 1 PublicationCorresponds to variant rs554862186dbSNPEnsembl.1
Natural variantiVAR_00611727G → R in OCA2. Corresponds to variant rs61738394dbSNPEnsembl.1
Natural variantiVAR_00611886S → R in OCA2. 1 PublicationCorresponds to variant rs772243109dbSNPEnsembl.1
Natural variantiVAR_006119112C → F in OCA2. 1 PublicationCorresponds to variant rs562649990dbSNPEnsembl.1
Natural variantiVAR_020623198P → L in OCA2. 1 PublicationCorresponds to variant rs183487020dbSNPEnsembl.1
Natural variantiVAR_006120206 – 211Missing in OCA2; severe. 6
Natural variantiVAR_020624211P → L in OCA2. 1 PublicationCorresponds to variant rs190612616dbSNPEnsembl.1
Natural variantiVAR_022019241P → R.Corresponds to variant rs2305253dbSNPEnsembl.1
Natural variantiVAR_006121257A → D.2 PublicationsCorresponds to variant rs1050968dbSNPEnsembl.1
Natural variantiVAR_032094266R → W.Corresponds to variant rs33929465dbSNPEnsembl.1
Natural variantiVAR_006122273 – 274NW → KV in OCA2. 2
Natural variantiVAR_020625290R → G in OCA2. 2 PublicationsCorresponds to variant rs769408559dbSNPEnsembl.1
Natural variantiVAR_006123305R → W Polymorphism associated with nonblue eye color; could be a biomarker of cutaneous cancer risk. 4 PublicationsCorresponds to variant rs1800401dbSNPEnsembl.1
Natural variantiVAR_020626334A → V in OCA2. 1 PublicationCorresponds to variant rs121918168dbSNPEnsembl.1
Natural variantiVAR_032095336A → V.Corresponds to variant rs34010619dbSNPEnsembl.1
Natural variantiVAR_020627350V → M in unclassified OCA. 1 PublicationCorresponds to variant rs533478642dbSNPEnsembl.1
Natural variantiVAR_006124368A → V in OCA2. 1 PublicationCorresponds to variant rs61745150dbSNPEnsembl.1
Natural variantiVAR_020628370I → T in unclassified OCA. 1 PublicationCorresponds to variant rs34731820dbSNPEnsembl.1
Natural variantiVAR_006125385F → I in OCA2; severe. Corresponds to variant rs137956605dbSNPEnsembl.1
Natural variantiVAR_020629387T → M.1 PublicationCorresponds to variant rs150335311dbSNPEnsembl.1
Natural variantiVAR_020630394M → I in OCA2. 1 PublicationCorresponds to variant rs121918171dbSNPEnsembl.1
Natural variantiVAR_006126395M → L in OCA2; severe. Corresponds to variant rs757286784dbSNPEnsembl.1
Natural variantiVAR_006127404T → M in OCA2. 1 PublicationCorresponds to variant rs144812594dbSNPEnsembl.1
Natural variantiVAR_006128419R → Q Polymorphism associated with green/hazel eye color. 5 PublicationsCorresponds to variant rs1800407dbSNPEnsembl.1
Natural variantiVAR_006129419R → W in OCA2. 1 PublicationCorresponds to variant rs143218168dbSNPEnsembl.1
Natural variantiVAR_006130425Missing in OCA2; mild. 1
Natural variantiVAR_007939440L → F.1 PublicationCorresponds to variant rs1800408dbSNPEnsembl.1
Natural variantiVAR_006131440L → H.1
Natural variantiVAR_006132443V → I in OCA2. 3 PublicationsCorresponds to variant rs28934272dbSNPEnsembl.1
Natural variantiVAR_006133446M → V in OCA2; mild; AROA form. Corresponds to variant rs140566426dbSNPEnsembl.1
Natural variantiVAR_006134473I → S in OCA2. 1
Natural variantiVAR_043700476N → D in OCA2. 1 Publication1
Natural variantiVAR_007940481A → T in OCA2. 2 PublicationsCorresponds to variant rs74653330dbSNPEnsembl.1
Natural variantiVAR_006135489N → D in OCA2; mild/severe. 1 PublicationCorresponds to variant rs121918170dbSNPEnsembl.1
Natural variantiVAR_032096519V → A.Corresponds to variant rs41446944dbSNPEnsembl.1
Natural variantiVAR_006136549H → Q in OCA2. 1
Natural variantiVAR_032097560R → H.Corresponds to variant rs35110389dbSNPEnsembl.1
Natural variantiVAR_006137592T → I in OCA2. 1 PublicationCorresponds to variant rs1800413dbSNPEnsembl.1
Natural variantiVAR_020631614K → E in OCA2. 1 Publication1
Natural variantiVAR_006138614K → N in OCA2. 1
Natural variantiVAR_006139615H → R.2 PublicationsCorresponds to variant rs1800414dbSNPEnsembl.1
Natural variantiVAR_020632617I → L in OCA2. 1 PublicationCorresponds to variant rs763016773dbSNPEnsembl.1
Natural variantiVAR_072600633V → I in OCA2. 1 Publication1
Natural variantiVAR_006140652W → R in OCA2. 1
Natural variantiVAR_020633678E → K in unclassified OCA. 1 Publication1
Natural variantiVAR_020634679W → C in OCA2. 3 PublicationsCorresponds to variant rs121918169dbSNPEnsembl.1
Natural variantiVAR_006141679W → R in OCA2; severe. Corresponds to variant rs751822606dbSNPEnsembl.1
Natural variantiVAR_072601684F → C in OCA2. 1 PublicationCorresponds to variant rs772754008dbSNPEnsembl.1
Natural variantiVAR_020635688L → F in unclassified OCA. 1 Publication1
Natural variantiVAR_020636720R → C in OCA2. 1 PublicationCorresponds to variant rs141545475dbSNPEnsembl.1
Natural variantiVAR_006142722I → T.1 PublicationCorresponds to variant rs1800417dbSNPEnsembl.1
Natural variantiVAR_006143724A → P in OCA2. 1 Publication1
Natural variantiVAR_006144736S → L in OCA2. Corresponds to variant rs780296175dbSNPEnsembl.1
Natural variantiVAR_006145743P → L in OCA2 and unclassified OCA. 2 PublicationsCorresponds to variant rs121918167dbSNPEnsembl.1
Natural variantiVAR_036468773A → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_043701775G → R in OCA2. 1 Publication1
Natural variantiVAR_006146787A → V in OCA2. 1 PublicationCorresponds to variant rs200457227dbSNPEnsembl.1
Natural variantiVAR_020637795G → R in OCA2. 1 Publication1
Natural variantiVAR_020638799Q → H in OCA2. 1 Publication1
Natural variantiVAR_043702827Y → H in OCA2. 1 Publication1
Natural variantiVAR_021682833Missing in OCA2. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_012284349 – 372Missing in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_012285652 – 668WIAIL…LADIH → GLGLVQAGRYYLSTPES in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_012286669 – 838Missing in isoform 3. 1 PublicationAdd BLAST170

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M99564 mRNA. Translation: AAA36477.1.
U19170
, U19153, U19154, U19156, U19158, U19160, U19162, U19164, U19166, U19169, U19168, U19167, U19165, U19163, U19161, U19159, U19157, U19155 Genomic DNA. Translation: AAC13783.1.
U19176
, U19153, U19154, U19155, U19157, U19158, U19159, U19160, U19161, U19162, U19163, U19164, U19165, U19166, U19167, U19168, U19169, U19171, U19172, U19173, U19174, U19175 Genomic DNA. Translation: AAC13784.1.
BC012097 mRNA. Translation: AAH12097.1.
M97901 mRNA. Translation: AAA36430.1.
CCDSiCCDS10020.1. [Q04671-1]
CCDS73701.1. [Q04671-2]
PIRiA57173.
S28911.
RefSeqiNP_000266.2. NM_000275.2. [Q04671-1]
NP_001287913.1. NM_001300984.1. [Q04671-2]
UniGeneiHs.654411.

Genome annotation databases

EnsembliENST00000353809; ENSP00000261276; ENSG00000104044. [Q04671-2]
ENST00000354638; ENSP00000346659; ENSG00000104044. [Q04671-1]
GeneIDi4948.
KEGGihsa:4948.
UCSCiuc001zbh.6. human. [Q04671-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the P gene

Retina International's Scientific Newsletter

Albinism database (ADB)

P mutations

Protein Spotlight

Questioning colour - Issue 54 of January 2005

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M99564 mRNA. Translation: AAA36477.1.
U19170
, U19153, U19154, U19156, U19158, U19160, U19162, U19164, U19166, U19169, U19168, U19167, U19165, U19163, U19161, U19159, U19157, U19155 Genomic DNA. Translation: AAC13783.1.
U19176
, U19153, U19154, U19155, U19157, U19158, U19159, U19160, U19161, U19162, U19163, U19164, U19165, U19166, U19167, U19168, U19169, U19171, U19172, U19173, U19174, U19175 Genomic DNA. Translation: AAC13784.1.
BC012097 mRNA. Translation: AAH12097.1.
M97901 mRNA. Translation: AAA36430.1.
CCDSiCCDS10020.1. [Q04671-1]
CCDS73701.1. [Q04671-2]
PIRiA57173.
S28911.
RefSeqiNP_000266.2. NM_000275.2. [Q04671-1]
NP_001287913.1. NM_001300984.1. [Q04671-2]
UniGeneiHs.654411.

3D structure databases

ProteinModelPortaliQ04671.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111002. 3 interactors.
IntActiQ04671. 1 interactor.
STRINGi9606.ENSP00000346659.

Protein family/group databases

TCDBi2.A.45.2.1. the arsenite-antimonite (arsb) efflux family.

PTM databases

iPTMnetiQ04671.
PhosphoSitePlusiQ04671.

Polymorphism and mutation databases

BioMutaiOCA2.
DMDMi90110050.

Proteomic databases

PaxDbiQ04671.
PeptideAtlasiQ04671.
PRIDEiQ04671.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000353809; ENSP00000261276; ENSG00000104044. [Q04671-2]
ENST00000354638; ENSP00000346659; ENSG00000104044. [Q04671-1]
GeneIDi4948.
KEGGihsa:4948.
UCSCiuc001zbh.6. human. [Q04671-1]

Organism-specific databases

CTDi4948.
DisGeNETi4948.
GeneCardsiOCA2.
GeneReviewsiOCA2.
H-InvDBHIX0012054.
HGNCiHGNC:8101. OCA2.
HPAiHPA036403.
MalaCardsiOCA2.
MIMi203200. phenotype.
227220. phenotype.
611409. gene.
neXtProtiNX_Q04671.
OpenTargetsiENSG00000104044.
Orphaneti72. Angelman syndrome.
79432. Oculocutaneous albinism type 2.
98754. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
177901. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
177904. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
PharmGKBiPA31890.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2639. Eukaryota.
COG1055. LUCA.
GeneTreeiENSGT00390000017120.
HOGENOMiHOG000047303.
HOVERGENiHBG008343.
InParanoidiQ04671.
OMAiQVTHNWT.
OrthoDBiEOG091G03O6.
PhylomeDBiQ04671.
TreeFamiTF323556.

Enzyme and pathway databases

BioCyciZFISH:HS02540-MONOMER.
ReactomeiR-HSA-5662702. Melanin biosynthesis.

Miscellaneous databases

GeneWikiiOCA2.
GenomeRNAii4948.
PROiQ04671.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104044.
CleanExiHS_OCA2.
ExpressionAtlasiQ04671. baseline and differential.
GenevisibleiQ04671. HS.

Family and domain databases

InterProiIPR004680. Cit_transptr-like_dom.
[Graphical view]
PfamiPF03600. CitMHS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiP_HUMAN
AccessioniPrimary (citable) accession number: Q04671
Secondary accession number(s): Q15211
, Q15212, Q96EN1, Q9UMI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: March 21, 2006
Last modified: November 30, 2016
This is version 172 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.