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Protein

Tyrosinase

Gene

TYR

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

Functioni

This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone.By similarity

Catalytic activityi

2 L-dopa + O2 = 2 dopaquinone + 2 H2O.By similarity
L-tyrosine + O2 = dopaquinone + H2O.By similarity

Cofactori

Cu2+By similarityNote: Binds 2 copper ions per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi180Copper ABy similarity1
Metal bindingi202Copper ABy similarity1
Metal bindingi211Copper ABy similarity1
Metal bindingi363Copper BBy similarity1
Metal bindingi367Copper BBy similarity1
Metal bindingi390Copper BBy similarity1

GO - Molecular functioni

  • copper ion binding Source: UniProtKB
  • monooxygenase activity Source: Reactome
  • monophenol monooxygenase activity Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • cell proliferation Source: Ensembl
  • eye pigment biosynthetic process Source: ProtInc
  • melanin biosynthetic process Source: CACAO
  • melanin biosynthetic process from tyrosine Source: ProtInc
  • response to cAMP Source: Ensembl
  • response to UV Source: Ensembl
  • response to vitamin D Source: Ensembl
  • thymus development Source: Ensembl
  • visual perception Source: ProtInc
Complete GO annotation...

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase, Tumor antigen
Biological processMelanin biosynthesis
LigandCopper, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS01248-MONOMER.
ZFISH:HS01248-MONOMER.
BRENDAi1.14.18.1. 2681.
ReactomeiR-HSA-5662702. Melanin biosynthesis.
SABIO-RKP14679.
SIGNORiP14679.

Names & Taxonomyi

Protein namesi
Recommended name:
Tyrosinase (EC:1.14.18.1)
Alternative name(s):
LB24-AB
Monophenol monooxygenase
SK29-AB
Tumor rejection antigen AB
Gene namesi
Name:TYR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:12442. TYR.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 476Lumenal, melanosomeSequence analysisAdd BLAST458
Transmembranei477 – 497HelicalSequence analysisAdd BLAST21
Topological domaini498 – 529CytoplasmicSequence analysisAdd BLAST32

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Ensembl
  • Golgi-associated vesicle Source: ProtInc
  • integral component of membrane Source: UniProtKB-KW
  • lysosome Source: UniProtKB
  • melanosome Source: UniProtKB
  • melanosome membrane Source: Reactome
  • nucleus Source: Ensembl
  • perinuclear region of cytoplasm Source: UniProtKB

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Albinism, oculocutaneous, 1A (OCA1A)20 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 absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
See also OMIM:203100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00764919H → Q in OCA1A. Corresponds to variant dbSNP:rs61753177Ensembl.1
Natural variantiVAR_00765021P → S in OCA1A. Corresponds to variant dbSNP:rs617531781 PublicationEnsembl.1
Natural variantiVAR_02168336C → Y in OCA1A. Corresponds to variant dbSNP:rs617531791 PublicationEnsembl.1
Natural variantiVAR_00765142D → G in OCA1A. Corresponds to variant dbSNP:rs289408781 PublicationEnsembl.1
Natural variantiVAR_02168444S → G in OCA1A. 1 Publication1
Natural variantiVAR_02168544S → R in OCA1A. Corresponds to variant dbSNP:rs7557005811 PublicationEnsembl.1
Natural variantiVAR_00765247G → D in OCA1A. Corresponds to variant dbSNP:rs617531803 PublicationsEnsembl.1
Natural variantiVAR_02168647G → V in OCA1A. 1 Publication1
Natural variantiVAR_07259250S → L in OCA1A. 1 Publication1
Natural variantiVAR_00765455C → Y in OCA1A. Corresponds to variant dbSNP:rs289408792 PublicationsEnsembl.1
Natural variantiVAR_02168768Q → H in OCA1A. 1 Publication1
Natural variantiVAR_00765577R → Q in OCA1A. Corresponds to variant dbSNP:rs617531853 PublicationsEnsembl.1
Natural variantiVAR_00923677R → RR in OCA1A. 1 Publication1
Natural variantiVAR_00765677R → W in OCA1A. Corresponds to variant dbSNP:rs617531842 PublicationsEnsembl.1
Natural variantiVAR_02168879S → L in OCA1A. Corresponds to variant dbSNP:rs5440530151 PublicationEnsembl.1
Natural variantiVAR_00765780W → R in OCA1A. Corresponds to variant dbSNP:rs61753188Ensembl.1
Natural variantiVAR_00765881P → L in OCA1A. Corresponds to variant dbSNP:rs289408763 PublicationsEnsembl.1
Natural variantiVAR_00765989C → R in OCA1A. Corresponds to variant dbSNP:rs289408771 PublicationEnsembl.1
Natural variantiVAR_07259391C → Y in OCA1A. Corresponds to variant dbSNP:rs1378548901 PublicationEnsembl.1
Natural variantiVAR_00766097G → R in OCA1A. Corresponds to variant dbSNP:rs617532521 PublicationEnsembl.1
Natural variantiVAR_021689109G → R in OCA1A. Corresponds to variant dbSNP:rs617532531 PublicationEnsembl.1
Natural variantiVAR_021690155T → S in OCA1A. 1 Publication1
Natural variantiVAR_007661176F → I in OCA1A. Corresponds to variant dbSNP:rs617532591 PublicationEnsembl.1
Natural variantiVAR_021691177V → F in OCA1A. Corresponds to variant dbSNP:rs1384876951 PublicationEnsembl.1
Natural variantiVAR_021692179M → L in OCA1A. 1 Publication1
Natural variantiVAR_021693180H → N in OCA1A. Corresponds to variant dbSNP:rs7798783771 PublicationEnsembl.1
Natural variantiVAR_071756198I → T in OCA1A. Corresponds to variant dbSNP:rs7505539081 PublicationEnsembl.1
Natural variantiVAR_021694199D → N in OCA1A. 1 Publication1
Natural variantiVAR_021695201A → S in OCA1A. 1 Publication1
Natural variantiVAR_021696205P → T in OCA1A. Corresponds to variant dbSNP:rs617543621 PublicationEnsembl.1
Natural variantiVAR_007663206A → T in OCA1A. Corresponds to variant dbSNP:rs289408801 PublicationEnsembl.1
Natural variantiVAR_007664216L → M in OCA1A. Corresponds to variant dbSNP:rs61754363Ensembl.1
Natural variantiVAR_007665217R → G in OCA1A. Corresponds to variant dbSNP:rs63159160Ensembl.1
Natural variantiVAR_007667217R → Q in OCA1A. Corresponds to variant dbSNP:rs617543652 PublicationsEnsembl.1
Natural variantiVAR_021697217R → S in OCA1A. 1 Publication1
Natural variantiVAR_007666217R → W in OCA1A. Corresponds to variant dbSNP:rs631591602 PublicationsEnsembl.1
Natural variantiVAR_007926217Missing in OCA1A. 1
Natural variantiVAR_021698227Missing in OCA1A. 1
Natural variantiVAR_021699236W → L in OCA1A. 1 Publication1
Natural variantiVAR_021700236W → S in OCA1A. Corresponds to variant dbSNP:rs617543671 PublicationEnsembl.1
Natural variantiVAR_021701239R → W in OCA1A. Corresponds to variant dbSNP:rs7746700981 PublicationEnsembl.1
Natural variantiVAR_021702240D → V in OCA1A. 1 Publication1
Natural variantiVAR_021703243K → T in OCA1A. 1 Publication1
Natural variantiVAR_007668253G → R in OCA1A. Corresponds to variant dbSNP:rs61754369Ensembl.1
Natural variantiVAR_021704256H → Y in OCA1A. Corresponds to variant dbSNP:rs617543702 PublicationsEnsembl.1
Natural variantiVAR_021705272W → C in OCA1A. Corresponds to variant dbSNP:rs626459021 PublicationEnsembl.1
Natural variantiVAR_007669275V → F in OCA1B and OCA1A. Corresponds to variant dbSNP:rs1048943143 PublicationsEnsembl.1
Natural variantiVAR_007927288L → S in OCA1A. 1
Natural variantiVAR_009237289C → G in OCA1A. 1 Publication1
Natural variantiVAR_007670289C → R in OCA1A. 2 Publications1
Natural variantiVAR_021706294E → G in OCA1A. 1 Publication1
Natural variantiVAR_007928294E → K in OCA1A and OCA1B. Corresponds to variant dbSNP:rs7577541203 PublicationsEnsembl.1
Natural variantiVAR_072594298R → W in OCA1A. Corresponds to variant dbSNP:rs2008547961 PublicationEnsembl.1
Natural variantiVAR_007671299R → H in OCA1A. Corresponds to variant dbSNP:rs617543753 PublicationsEnsembl.1
Natural variantiVAR_007672299R → S in OCA1A. Corresponds to variant dbSNP:rs617543741 PublicationEnsembl.1
Natural variantiVAR_021707318V → E in OCA1A. 1 Publication1
Natural variantiVAR_007929328E → Q in OCA1A. Corresponds to variant dbSNP:rs617543801 PublicationEnsembl.1
Natural variantiVAR_021708329S → P in OCA1A. 1 Publication1
Natural variantiVAR_021709332M → T in OCA1A. Corresponds to variant dbSNP:rs3725342921 PublicationEnsembl.1
Natural variantiVAR_007676339S → G in OCA1A. Corresponds to variant dbSNP:rs626459061 PublicationEnsembl.1
Natural variantiVAR_021710345E → G in OCA1A. 1 Publication1
Natural variantiVAR_007930346G → E in OCA1A. Corresponds to variant dbSNP:rs773970123Ensembl.1
Natural variantiVAR_007931355A → E in OCA1A. 1
Natural variantiVAR_007678355A → P in OCA1A. Corresponds to variant dbSNP:rs626459083 PublicationsEnsembl.1
Natural variantiVAR_072595355A → V in OCA1A. Corresponds to variant dbSNP:rs1512062951 PublicationEnsembl.1
Natural variantiVAR_007932361S → R in OCA1A. Corresponds to variant dbSNP:rs617543831 PublicationEnsembl.1
Natural variantiVAR_072596364N → H in OCA1A. 1 Publication1
Natural variantiVAR_007933367H → Y in OCA1A. Corresponds to variant dbSNP:rs7760547951 PublicationEnsembl.1
Natural variantiVAR_007934370M → T in OCA1A. Corresponds to variant dbSNP:rs617543851 PublicationEnsembl.1
Natural variantiVAR_007679371N → T in OCA1A. Corresponds to variant dbSNP:rs61754387Ensembl.1
Natural variantiVAR_007935371N → Y in OCA1A. Corresponds to variant dbSNP:rs617543862 PublicationsEnsembl.1
Natural variantiVAR_007680373T → K in OCA1A. Corresponds to variant dbSNP:rs617543887 PublicationsEnsembl.1
Natural variantiVAR_021711378Q → K in OCA1A. 1 Publication1
Natural variantiVAR_007682382N → K in OCA1A. Corresponds to variant dbSNP:rs104894315Ensembl.1
Natural variantiVAR_007683383D → N in OCA1A. Corresponds to variant dbSNP:rs1219080113 PublicationsEnsembl.1
Natural variantiVAR_072597384P → A in OCA1A. 1 Publication1
Natural variantiVAR_007936393V → F in OCA1A. 1 Publication1
Natural variantiVAR_007685395S → N in OCA1A. Corresponds to variant dbSNP:rs752344007Ensembl.1
Natural variantiVAR_021712395S → R in OCA1A. 1 Publication1
Natural variantiVAR_021713398E → A in OCA1A. 1 Publication1
Natural variantiVAR_021714398E → V in OCA1A. 1 Publication1
Natural variantiVAR_009238400W → L in OCA1A. Corresponds to variant dbSNP:rs626459161 PublicationEnsembl.1
Natural variantiVAR_021715402R → L in OCA1A. 1 Publication1
Natural variantiVAR_007687403R → S in OCA1A and OCA1B. Corresponds to variant dbSNP:rs1048943163 PublicationsEnsembl.1
Natural variantiVAR_021716404H → N in OCA1A. 1 Publication1
Natural variantiVAR_021717405R → L in OCA1A. 1 Publication1
Natural variantiVAR_007689406P → L in OCA1A and OCA1B. Corresponds to variant dbSNP:rs1048943133 PublicationsEnsembl.1
Natural variantiVAR_021718408Q → H in OCA1A. 1 Publication1
Natural variantiVAR_021719409E → D in OCA1A. 1 Publication1
Natural variantiVAR_021720416A → S in OCA1A. 1 Publication1
Natural variantiVAR_021721417P → H in OCA1A. 1 Publication1
Natural variantiVAR_007690419G → R in OCA1A. Corresponds to variant dbSNP:rs617543924 PublicationsEnsembl.1
Natural variantiVAR_007691422R → Q in OCA1A and OCA1B; temperature sensitive variant. Corresponds to variant dbSNP:rs617543933 PublicationsEnsembl.1
Natural variantiVAR_021722424S → F in OCA1A. Corresponds to variant dbSNP:rs7587475811 PublicationEnsembl.1
Natural variantiVAR_021723426M → K in OCA1A. 1 Publication1
Natural variantiVAR_021724427V → G in OCA1A. 1 Publication1
Natural variantiVAR_007938431P → L in OCA1A. Corresponds to variant dbSNP:rs2818653251 PublicationEnsembl.1
Natural variantiVAR_021725434R → I in OCA1A. 1 Publication1
Natural variantiVAR_021726435N → D in OCA1A. 1 Publication1
Natural variantiVAR_021727439F → V in OCA1A. Corresponds to variant dbSNP:rs2818653271 PublicationEnsembl.1
Natural variantiVAR_021728444D → G in OCA1A. 1 Publication1
Natural variantiVAR_007692446G → S in OCA1A. Corresponds to variant dbSNP:rs1048943173 PublicationsEnsembl.1
Natural variantiVAR_007693448D → N in OCA1A. Corresponds to variant dbSNP:rs1048943183 PublicationsEnsembl.1
Natural variantiVAR_072598490A → D in OCA1A. 1 Publication1
Albinism, oculocutaneous, 1B (OCA1B)4 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. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C.
See also OMIM:606952
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007925152P → S in OCA1B. Corresponds to variant dbSNP:rs1455137331 PublicationEnsembl.1
Natural variantiVAR_007669275V → F in OCA1B and OCA1A. Corresponds to variant dbSNP:rs1048943143 PublicationsEnsembl.1
Natural variantiVAR_007928294E → K in OCA1A and OCA1B. Corresponds to variant dbSNP:rs7577541203 PublicationsEnsembl.1
Natural variantiVAR_007675325T → A in OCA1B. Corresponds to variant dbSNP:rs61754379Ensembl.1
Natural variantiVAR_007681380S → P in OCA1B. Corresponds to variant dbSNP:rs61754391Ensembl.1
Natural variantiVAR_007684390H → D in OCA1B. Corresponds to variant dbSNP:rs62645914Ensembl.1
Natural variantiVAR_007937402R → G in OCA1B. 1
Natural variantiVAR_007687403R → S in OCA1A and OCA1B. Corresponds to variant dbSNP:rs1048943163 PublicationsEnsembl.1
Natural variantiVAR_007689406P → L in OCA1A and OCA1B. Corresponds to variant dbSNP:rs1048943133 PublicationsEnsembl.1
Natural variantiVAR_007691422R → Q in OCA1A and OCA1B; temperature sensitive variant. Corresponds to variant dbSNP:rs617543933 PublicationsEnsembl.1

Keywords - Diseasei

Albinism, Deafness, Disease mutation, Waardenburg syndrome

Organism-specific databases

DisGeNETi7299.
MalaCardsiTYR.
MIMi103470. phenotype.
203100. phenotype.
601800. phenotype.
606952. phenotype.
OpenTargetsiENSG00000077498.
Orphaneti352734. Minimal pigment oculocutaneous albinism type 1.
352740. Ocular albinism with congenital sensorineural deafness.
79431. Oculocutaneous albinism type 1A.
79434. Oculocutaneous albinism type 1B.
352737. Temperature-sensitive oculocutaneous albinism type 1.
PharmGKBiPA37095.

Chemistry databases

ChEMBLiCHEMBL1973.
DrugBankiDB00548. Azelaic Acid.
DB01055. Mimosine.
DB00600. Monobenzone.

Polymorphism and mutation databases

BioMutaiTYR.
DMDMi401235.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000003587919 – 529TyrosinaseAdd BLAST511

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi86N-linked (GlcNAc...)Sequence analysis1
Glycosylationi111N-linked (GlcNAc...)Sequence analysis1
Glycosylationi161N-linked (GlcNAc...)Sequence analysis1
Glycosylationi230N-linked (GlcNAc...)Sequence analysis1
Glycosylationi337N-linked (GlcNAc...)Sequence analysis1
Glycosylationi371N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

Glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP14679.
PeptideAtlasiP14679.
PRIDEiP14679.

PTM databases

iPTMnetiP14679.
PhosphoSitePlusiP14679.

Expressioni

Inductioni

Increased expression after UVB irradiation.

Gene expression databases

BgeeiENSG00000077498.
CleanExiHS_TYR.
ExpressionAtlasiP14679. baseline and differential.
GenevisibleiP14679. HS.

Organism-specific databases

HPAiCAB000079.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113150. 1 interactor.
STRINGi9606.ENSP00000263321.

Chemistry databases

BindingDBiP14679.

Structurei

3D structure databases

ProteinModelPortaliP14679.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the tyrosinase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEZU. Eukaryota.
ENOG410Y42I. LUCA.
GeneTreeiENSGT00500000044790.
HOVERGENiHBG003553.
InParanoidiP14679.
KOiK00505.
OMAiEEYNSHQ.
OrthoDBiEOG091G03YR.
PhylomeDBiP14679.
TreeFamiTF315865.

Family and domain databases

Gene3Di1.10.1280.10. 1 hit.
InterProiIPR002227. Tyrosinase_Cu-bd.
IPR008922. Unchr_di-copper_centre.
[Graphical view]
PfamiPF00264. Tyrosinase. 1 hit.
[Graphical view]
PRINTSiPR00092. TYROSINASE.
SUPFAMiSSF48056. SSF48056. 1 hit.
PROSITEiPS00497. TYROSINASE_1. 1 hit.
PS00498. TYROSINASE_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P14679-1) [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
MLLAVLYCLL WSFQTSAGHF PRACVSSKNL MEKECCPPWS GDRSPCGQLS
60 70 80 90 100
GRGSCQNILL SNAPLGPQFP FTGVDDRESW PSVFYNRTCQ CSGNFMGFNC
110 120 130 140 150
GNCKFGFWGP NCTERRLLVR RNIFDLSAPE KDKFFAYLTL AKHTISSDYV
160 170 180 190 200
IPIGTYGQMK NGSTPMFNDI NIYDLFVWMH YYVSMDALLG GSEIWRDIDF
210 220 230 240 250
AHEAPAFLPW HRLFLLRWEQ EIQKLTGDEN FTIPYWDWRD AEKCDICTDE
260 270 280 290 300
YMGGQHPTNP NLLSPASFFS SWQIVCSRLE EYNSHQSLCN GTPEGPLRRN
310 320 330 340 350
PGNHDKSRTP RLPSSADVEF CLSLTQYESG SMDKAANFSF RNTLEGFASP
360 370 380 390 400
LTGIADASQS SMHNALHIYM NGTMSQVQGS ANDPIFLLHH AFVDSIFEQW
410 420 430 440 450
LRRHRPLQEV YPEANAPIGH NRESYMVPFI PLYRNGDFFI SSKDLGYDYS
460 470 480 490 500
YLQDSDPDSF QDYIKSYLEQ ASRIWSWLLG AAMVGAVLTA LLAGLVSLLC
510 520
RHKRKQLPEE KQPLLMEKED YHSLYQSHL
Length:529
Mass (Da):60,393
Last modified:July 1, 1993 - v3
Checksum:i67211A91608A59E1
GO
Isoform 2 (identifier: P14679-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     346-377: GFASPLTGIADASQSSMHNALHIYMNGTMSQV → EMGFLHVGWAGLKLLTSRDPPPWPPKMLGLQA
     378-529: Missing.

Note: No experimental confirmation available.
Show »
Length:377
Mass (Da):42,914
Checksum:iE4E415B71C60359B
GO

Sequence cautioni

The sequence AAA61241 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAA68756 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti42 – 45DRSP → TGV in AAA61241 (PubMed:2823263).Curated4
Sequence conflicti179M → I in CAA68756 (PubMed:2499655).Curated1
Sequence conflicti373 – 378TMSQVQ → HVPGT in AAA61241 (PubMed:2823263).Curated6
Sequence conflicti495L → P in AAA61241 (PubMed:2823263).Curated1
Sequence conflicti495L → P in AAA61244 (PubMed:2823263).Curated1
Sequence conflicti520 – 523DYHS → GLPQ (PubMed:2823263).Curated4
Sequence conflicti525 – 528YQSH → VSEPFIKGLGNRVGPKSPDL TLTQSNVQVPENICWYFL (PubMed:2823263).Curated4

Polymorphismi

Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIMi:601800]. 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.2 Publications
Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism (WS2-OA) in association with a deletion in the MITF gene.3 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00764919H → Q in OCA1A. Corresponds to variant dbSNP:rs61753177Ensembl.1
Natural variantiVAR_00765021P → S in OCA1A. Corresponds to variant dbSNP:rs617531781 PublicationEnsembl.1
Natural variantiVAR_02168336C → Y in OCA1A. Corresponds to variant dbSNP:rs617531791 PublicationEnsembl.1
Natural variantiVAR_00765142D → G in OCA1A. Corresponds to variant dbSNP:rs289408781 PublicationEnsembl.1
Natural variantiVAR_02168444S → G in OCA1A. 1 Publication1
Natural variantiVAR_02168544S → R in OCA1A. Corresponds to variant dbSNP:rs7557005811 PublicationEnsembl.1
Natural variantiVAR_00765247G → D in OCA1A. Corresponds to variant dbSNP:rs617531803 PublicationsEnsembl.1
Natural variantiVAR_02168647G → V in OCA1A. 1 Publication1
Natural variantiVAR_07259250S → L in OCA1A. 1 Publication1
Natural variantiVAR_00765352R → I in OCA1. Corresponds to variant dbSNP:rs61753182Ensembl.1
Natural variantiVAR_00765455C → Y in OCA1A. Corresponds to variant dbSNP:rs289408792 PublicationsEnsembl.1
Natural variantiVAR_02168768Q → H in OCA1A. 1 Publication1
Natural variantiVAR_00765577R → Q in OCA1A. Corresponds to variant dbSNP:rs617531853 PublicationsEnsembl.1
Natural variantiVAR_00923677R → RR in OCA1A. 1 Publication1
Natural variantiVAR_00765677R → W in OCA1A. Corresponds to variant dbSNP:rs617531842 PublicationsEnsembl.1
Natural variantiVAR_02168879S → L in OCA1A. Corresponds to variant dbSNP:rs5440530151 PublicationEnsembl.1
Natural variantiVAR_00765780W → R in OCA1A. Corresponds to variant dbSNP:rs61753188Ensembl.1
Natural variantiVAR_00765881P → L in OCA1A. Corresponds to variant dbSNP:rs289408763 PublicationsEnsembl.1
Natural variantiVAR_00765989C → R in OCA1A. Corresponds to variant dbSNP:rs289408771 PublicationEnsembl.1
Natural variantiVAR_07259391C → Y in OCA1A. Corresponds to variant dbSNP:rs1378548901 PublicationEnsembl.1
Natural variantiVAR_00766097G → R in OCA1A. Corresponds to variant dbSNP:rs617532521 PublicationEnsembl.1
Natural variantiVAR_021689109G → R in OCA1A. Corresponds to variant dbSNP:rs617532531 PublicationEnsembl.1
Natural variantiVAR_034576134F → C. Corresponds to variant dbSNP:rs33955261Ensembl.1
Natural variantiVAR_042665142K → N. Corresponds to variant dbSNP:rs11545463Ensembl.1
Natural variantiVAR_007925152P → S in OCA1B. Corresponds to variant dbSNP:rs1455137331 PublicationEnsembl.1
Natural variantiVAR_021690155T → S in OCA1A. 1 Publication1
Natural variantiVAR_007661176F → I in OCA1A. Corresponds to variant dbSNP:rs617532591 PublicationEnsembl.1
Natural variantiVAR_021691177V → F in OCA1A. Corresponds to variant dbSNP:rs1384876951 PublicationEnsembl.1
Natural variantiVAR_021692179M → L in OCA1A. 1 Publication1
Natural variantiVAR_021693180H → N in OCA1A. Corresponds to variant dbSNP:rs7798783771 PublicationEnsembl.1
Natural variantiVAR_007662192S → Y Associated with SHEP3; light/dark skin. Corresponds to variant dbSNP:rs10426027 PublicationsEnsembl.1
Natural variantiVAR_071756198I → T in OCA1A. Corresponds to variant dbSNP:rs7505539081 PublicationEnsembl.1
Natural variantiVAR_021694199D → N in OCA1A. 1 Publication1
Natural variantiVAR_021695201A → S in OCA1A. 1 Publication1
Natural variantiVAR_021696205P → T in OCA1A. Corresponds to variant dbSNP:rs617543621 PublicationEnsembl.1
Natural variantiVAR_007663206A → T in OCA1A. Corresponds to variant dbSNP:rs289408801 PublicationEnsembl.1
Natural variantiVAR_007664216L → M in OCA1A. Corresponds to variant dbSNP:rs61754363Ensembl.1
Natural variantiVAR_007665217R → G in OCA1A. Corresponds to variant dbSNP:rs63159160Ensembl.1
Natural variantiVAR_007667217R → Q in OCA1A. Corresponds to variant dbSNP:rs617543652 PublicationsEnsembl.1
Natural variantiVAR_021697217R → S in OCA1A. 1 Publication1
Natural variantiVAR_007666217R → W in OCA1A. Corresponds to variant dbSNP:rs631591602 PublicationsEnsembl.1
Natural variantiVAR_007926217Missing in OCA1A. 1
Natural variantiVAR_021698227Missing in OCA1A. 1
Natural variantiVAR_021699236W → L in OCA1A. 1 Publication1
Natural variantiVAR_021700236W → S in OCA1A. Corresponds to variant dbSNP:rs617543671 PublicationEnsembl.1
Natural variantiVAR_021701239R → W in OCA1A. Corresponds to variant dbSNP:rs7746700981 PublicationEnsembl.1
Natural variantiVAR_021702240D → V in OCA1A. 1 Publication1
Natural variantiVAR_021703243K → T in OCA1A. 1 Publication1
Natural variantiVAR_007668253G → R in OCA1A. Corresponds to variant dbSNP:rs61754369Ensembl.1
Natural variantiVAR_021704256H → Y in OCA1A. Corresponds to variant dbSNP:rs617543702 PublicationsEnsembl.1
Natural variantiVAR_021705272W → C in OCA1A. Corresponds to variant dbSNP:rs626459021 PublicationEnsembl.1
Natural variantiVAR_007669275V → F in OCA1B and OCA1A. Corresponds to variant dbSNP:rs1048943143 PublicationsEnsembl.1
Natural variantiVAR_007927288L → S in OCA1A. 1
Natural variantiVAR_009237289C → G in OCA1A. 1 Publication1
Natural variantiVAR_007670289C → R in OCA1A. 2 Publications1
Natural variantiVAR_021706294E → G in OCA1A. 1 Publication1
Natural variantiVAR_007928294E → K in OCA1A and OCA1B. Corresponds to variant dbSNP:rs7577541203 PublicationsEnsembl.1
Natural variantiVAR_072594298R → W in OCA1A. Corresponds to variant dbSNP:rs2008547961 PublicationEnsembl.1
Natural variantiVAR_007671299R → H in OCA1A. Corresponds to variant dbSNP:rs617543753 PublicationsEnsembl.1
Natural variantiVAR_007672299R → S in OCA1A. Corresponds to variant dbSNP:rs617543741 PublicationEnsembl.1
Natural variantiVAR_011825308R → T. Corresponds to variant dbSNP:rs1042608Ensembl.1
Natural variantiVAR_007673312L → V in OCA1. Corresponds to variant dbSNP:rs61754377Ensembl.1
Natural variantiVAR_007674313P → R in OCA1. Corresponds to variant dbSNP:rs61754378Ensembl.1
Natural variantiVAR_021707318V → E in OCA1A. 1 Publication1
Natural variantiVAR_007675325T → A in OCA1B. Corresponds to variant dbSNP:rs61754379Ensembl.1
Natural variantiVAR_007929328E → Q in OCA1A. Corresponds to variant dbSNP:rs617543801 PublicationEnsembl.1
Natural variantiVAR_021708329S → P in OCA1A. 1 Publication1
Natural variantiVAR_021709332M → T in OCA1A. Corresponds to variant dbSNP:rs3725342921 PublicationEnsembl.1
Natural variantiVAR_007676339S → G in OCA1A. Corresponds to variant dbSNP:rs626459061 PublicationEnsembl.1
Natural variantiVAR_007677340F → L in OCA1. Corresponds to variant dbSNP:rs62645907Ensembl.1
Natural variantiVAR_021710345E → G in OCA1A. 1 Publication1
Natural variantiVAR_007930346G → E in OCA1A. Corresponds to variant dbSNP:rs773970123Ensembl.1
Natural variantiVAR_007931355A → E in OCA1A. 1
Natural variantiVAR_007678355A → P in OCA1A. Corresponds to variant dbSNP:rs626459083 PublicationsEnsembl.1
Natural variantiVAR_072595355A → V in OCA1A. Corresponds to variant dbSNP:rs1512062951 PublicationEnsembl.1
Natural variantiVAR_007932361S → R in OCA1A. Corresponds to variant dbSNP:rs617543831 PublicationEnsembl.1
Natural variantiVAR_072596364N → H in OCA1A. 1 Publication1
Natural variantiVAR_007933367H → Y in OCA1A. Corresponds to variant dbSNP:rs7760547951 PublicationEnsembl.1
Natural variantiVAR_007934370M → T in OCA1A. Corresponds to variant dbSNP:rs617543851 PublicationEnsembl.1
Natural variantiVAR_007679371N → T in OCA1A. Corresponds to variant dbSNP:rs61754387Ensembl.1
Natural variantiVAR_007935371N → Y in OCA1A. Corresponds to variant dbSNP:rs617543862 PublicationsEnsembl.1
Natural variantiVAR_007680373T → K in OCA1A. Corresponds to variant dbSNP:rs617543887 PublicationsEnsembl.1
Natural variantiVAR_021711378Q → K in OCA1A. 1 Publication1
Natural variantiVAR_007681380S → P in OCA1B. Corresponds to variant dbSNP:rs61754391Ensembl.1
Natural variantiVAR_007682382N → K in OCA1A. Corresponds to variant dbSNP:rs104894315Ensembl.1
Natural variantiVAR_007683383D → N in OCA1A. Corresponds to variant dbSNP:rs1219080113 PublicationsEnsembl.1
Natural variantiVAR_072597384P → A in OCA1A. 1 Publication1
Natural variantiVAR_007684390H → D in OCA1B. Corresponds to variant dbSNP:rs62645914Ensembl.1
Natural variantiVAR_007936393V → F in OCA1A. 1 Publication1
Natural variantiVAR_007685395S → N in OCA1A. Corresponds to variant dbSNP:rs752344007Ensembl.1
Natural variantiVAR_021712395S → R in OCA1A. 1 Publication1
Natural variantiVAR_021713398E → A in OCA1A. 1 Publication1
Natural variantiVAR_021714398E → V in OCA1A. 1 Publication1
Natural variantiVAR_009238400W → L in OCA1A. Corresponds to variant dbSNP:rs626459161 PublicationEnsembl.1
Natural variantiVAR_007937402R → G in OCA1B. 1
Natural variantiVAR_021715402R → L in OCA1A. 1 Publication1
Natural variantiVAR_007686402R → Q. Corresponds to variant dbSNP:rs11268095 PublicationsEnsembl.1
Natural variantiVAR_007687403R → S in OCA1A and OCA1B. Corresponds to variant dbSNP:rs1048943163 PublicationsEnsembl.1
Natural variantiVAR_021716404H → N in OCA1A. 1 Publication1
Natural variantiVAR_007688404H → P in OCA-I. Corresponds to variant dbSNP:rs62645920Ensembl.1
Natural variantiVAR_021717405R → L in OCA1A. 1 Publication1
Natural variantiVAR_007689406P → L in OCA1A and OCA1B. Corresponds to variant dbSNP:rs1048943133 PublicationsEnsembl.1
Natural variantiVAR_021718408Q → H in OCA1A. 1 Publication1
Natural variantiVAR_021719409E → D in OCA1A. 1 Publication1
Natural variantiVAR_021720416A → S in OCA1A. 1 Publication1
Natural variantiVAR_021721417P → H in OCA1A. 1 Publication1
Natural variantiVAR_007690419G → R in OCA1A. Corresponds to variant dbSNP:rs617543924 PublicationsEnsembl.1
Natural variantiVAR_007691422R → Q in OCA1A and OCA1B; temperature sensitive variant. Corresponds to variant dbSNP:rs617543933 PublicationsEnsembl.1
Natural variantiVAR_021722424S → F in OCA1A. Corresponds to variant dbSNP:rs7587475811 PublicationEnsembl.1
Natural variantiVAR_021723426M → K in OCA1A. 1 Publication1
Natural variantiVAR_021724427V → G in OCA1A. 1 Publication1
Natural variantiVAR_007938431P → L in OCA1A. Corresponds to variant dbSNP:rs2818653251 PublicationEnsembl.1
Natural variantiVAR_021725434R → I in OCA1A. 1 Publication1
Natural variantiVAR_021726435N → D in OCA1A. 1 Publication1
Natural variantiVAR_021727