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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...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase, Tumor antigen

Keywords - Biological processi

Melanin biosynthesis

Keywords - Ligandi

Copper, 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
Complete GO annotation...

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 rs61753177dbSNPEnsembl.1
Natural variantiVAR_00765021P → S in OCA1A. 1 PublicationCorresponds to variant rs61753178dbSNPEnsembl.1
Natural variantiVAR_02168336C → Y in OCA1A. 1 PublicationCorresponds to variant rs61753179dbSNPEnsembl.1
Natural variantiVAR_00765142D → G in OCA1A. 1 PublicationCorresponds to variant rs28940878dbSNPEnsembl.1
Natural variantiVAR_02168444S → G in OCA1A. 1 Publication1
Natural variantiVAR_02168544S → R in OCA1A. 1 PublicationCorresponds to variant rs755700581dbSNPEnsembl.1
Natural variantiVAR_00765247G → D in OCA1A. 3 PublicationsCorresponds to variant rs61753180dbSNPEnsembl.1
Natural variantiVAR_02168647G → V in OCA1A. 1 Publication1
Natural variantiVAR_07259250S → L in OCA1A. 1 Publication1
Natural variantiVAR_00765455C → Y in OCA1A. 2 PublicationsCorresponds to variant rs28940879dbSNPEnsembl.1
Natural variantiVAR_02168768Q → H in OCA1A. 1 Publication1
Natural variantiVAR_00765577R → Q in OCA1A. 3 PublicationsCorresponds to variant rs61753185dbSNPEnsembl.1
Natural variantiVAR_00923677R → RR in OCA1A. 1 Publication1
Natural variantiVAR_00765677R → W in OCA1A. 2 PublicationsCorresponds to variant rs61753184dbSNPEnsembl.1
Natural variantiVAR_02168879S → L in OCA1A. 1 PublicationCorresponds to variant rs544053015dbSNPEnsembl.1
Natural variantiVAR_00765780W → R in OCA1A. Corresponds to variant rs61753188dbSNPEnsembl.1
Natural variantiVAR_00765881P → L in OCA1A. 3 PublicationsCorresponds to variant rs28940876dbSNPEnsembl.1
Natural variantiVAR_00765989C → R in OCA1A. 1 PublicationCorresponds to variant rs28940877dbSNPEnsembl.1
Natural variantiVAR_07259391C → Y in OCA1A. 1 PublicationCorresponds to variant rs137854890dbSNPEnsembl.1
Natural variantiVAR_00766097G → R in OCA1A. 1 PublicationCorresponds to variant rs61753252dbSNPEnsembl.1
Natural variantiVAR_021689109G → R in OCA1A. 1 PublicationCorresponds to variant rs61753253dbSNPEnsembl.1
Natural variantiVAR_021690155T → S in OCA1A. 1 Publication1
Natural variantiVAR_007661176F → I in OCA1A. 1 PublicationCorresponds to variant rs61753259dbSNPEnsembl.1
Natural variantiVAR_021691177V → F in OCA1A. 1 PublicationCorresponds to variant rs138487695dbSNPEnsembl.1
Natural variantiVAR_021692179M → L in OCA1A. 1 Publication1
Natural variantiVAR_021693180H → N in OCA1A. 1 PublicationCorresponds to variant rs779878377dbSNPEnsembl.1
Natural variantiVAR_071756198I → T in OCA1A. 1 PublicationCorresponds to variant rs750553908dbSNPEnsembl.1
Natural variantiVAR_021694199D → N in OCA1A. 1 Publication1
Natural variantiVAR_021695201A → S in OCA1A. 1 Publication1
Natural variantiVAR_021696205P → T in OCA1A. 1 PublicationCorresponds to variant rs61754362dbSNPEnsembl.1
Natural variantiVAR_007663206A → T in OCA1A. 1 PublicationCorresponds to variant rs28940880dbSNPEnsembl.1
Natural variantiVAR_007664216L → M in OCA1A. Corresponds to variant rs61754363dbSNPEnsembl.1
Natural variantiVAR_007665217R → G in OCA1A. Corresponds to variant rs63159160dbSNPEnsembl.1
Natural variantiVAR_007667217R → Q in OCA1A. 2 PublicationsCorresponds to variant rs61754365dbSNPEnsembl.1
Natural variantiVAR_021697217R → S in OCA1A. 1 Publication1
Natural variantiVAR_007666217R → W in OCA1A. 2 PublicationsCorresponds to variant rs63159160dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs61754367dbSNPEnsembl.1
Natural variantiVAR_021701239R → W in OCA1A. 1 PublicationCorresponds to variant rs774670098dbSNPEnsembl.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 rs61754369dbSNPEnsembl.1
Natural variantiVAR_021704256H → Y in OCA1A. 2 PublicationsCorresponds to variant rs61754370dbSNPEnsembl.1
Natural variantiVAR_021705272W → C in OCA1A. 1 PublicationCorresponds to variant rs62645902dbSNPEnsembl.1
Natural variantiVAR_007669275V → F in OCA1B and OCA1A. 3 PublicationsCorresponds to variant rs104894314dbSNPEnsembl.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. 3 PublicationsCorresponds to variant rs757754120dbSNPEnsembl.1
Natural variantiVAR_072594298R → W in OCA1A. 1 PublicationCorresponds to variant rs200854796dbSNPEnsembl.1
Natural variantiVAR_007671299R → H in OCA1A. 3 PublicationsCorresponds to variant rs61754375dbSNPEnsembl.1
Natural variantiVAR_007672299R → S in OCA1A. 1 PublicationCorresponds to variant rs61754374dbSNPEnsembl.1
Natural variantiVAR_021707318V → E in OCA1A. 1 Publication1
Natural variantiVAR_007929328E → Q in OCA1A. 1 PublicationCorresponds to variant rs61754380dbSNPEnsembl.1
Natural variantiVAR_021708329S → P in OCA1A. 1 Publication1
Natural variantiVAR_021709332M → T in OCA1A. 1 PublicationCorresponds to variant rs372534292dbSNPEnsembl.1
Natural variantiVAR_007676339S → G in OCA1A. 1 PublicationCorresponds to variant rs62645906dbSNPEnsembl.1
Natural variantiVAR_021710345E → G in OCA1A. 1 Publication1
Natural variantiVAR_007930346G → E in OCA1A. Corresponds to variant rs773970123dbSNPEnsembl.1
Natural variantiVAR_007931355A → E in OCA1A. 1
Natural variantiVAR_007678355A → P in OCA1A. 3 PublicationsCorresponds to variant rs62645908dbSNPEnsembl.1
Natural variantiVAR_072595355A → V in OCA1A. 1 PublicationCorresponds to variant rs151206295dbSNPEnsembl.1
Natural variantiVAR_007932361S → R in OCA1A. 1 PublicationCorresponds to variant rs61754383dbSNPEnsembl.1
Natural variantiVAR_072596364N → H in OCA1A. 1 Publication1
Natural variantiVAR_007933367H → Y in OCA1A. 1 PublicationCorresponds to variant rs776054795dbSNPEnsembl.1
Natural variantiVAR_007934370M → T in OCA1A. 1 PublicationCorresponds to variant rs61754385dbSNPEnsembl.1
Natural variantiVAR_007679371N → T in OCA1A. Corresponds to variant rs61754387dbSNPEnsembl.1
Natural variantiVAR_007935371N → Y in OCA1A. 2 PublicationsCorresponds to variant rs61754386dbSNPEnsembl.1
Natural variantiVAR_007680373T → K in OCA1A. 7 PublicationsCorresponds to variant rs61754388dbSNPEnsembl.1
Natural variantiVAR_021711378Q → K in OCA1A. 1 Publication1
Natural variantiVAR_007682382N → K in OCA1A. Corresponds to variant rs104894315dbSNPEnsembl.1
Natural variantiVAR_007683383D → N in OCA1A. 3 PublicationsCorresponds to variant rs121908011dbSNPEnsembl.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 rs752344007dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs62645916dbSNPEnsembl.1
Natural variantiVAR_021715402R → L in OCA1A. 1 Publication1
Natural variantiVAR_007687403R → S in OCA1A and OCA1B. 3 PublicationsCorresponds to variant rs104894316dbSNPEnsembl.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. 3 PublicationsCorresponds to variant rs104894313dbSNPEnsembl.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. 4 PublicationsCorresponds to variant rs61754392dbSNPEnsembl.1
Natural variantiVAR_007691422R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 PublicationsCorresponds to variant rs61754393dbSNPEnsembl.1
Natural variantiVAR_021722424S → F in OCA1A. 1 PublicationCorresponds to variant rs758747581dbSNPEnsembl.1
Natural variantiVAR_021723426M → K in OCA1A. 1 Publication1
Natural variantiVAR_021724427V → G in OCA1A. 1 Publication1
Natural variantiVAR_007938431P → L in OCA1A. 1 PublicationCorresponds to variant rs281865325dbSNPEnsembl.1
Natural variantiVAR_021725434R → I in OCA1A. 1 Publication1
Natural variantiVAR_021726435N → D in OCA1A. 1 Publication1
Natural variantiVAR_021727439F → V in OCA1A. 1 PublicationCorresponds to variant rs281865327dbSNPEnsembl.1
Natural variantiVAR_021728444D → G in OCA1A. 1 Publication1
Natural variantiVAR_007692446G → S in OCA1A. 3 PublicationsCorresponds to variant rs104894317dbSNPEnsembl.1
Natural variantiVAR_007693448D → N in OCA1A. 3 PublicationsCorresponds to variant rs104894318dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs145513733dbSNPEnsembl.1
Natural variantiVAR_007669275V → F in OCA1B and OCA1A. 3 PublicationsCorresponds to variant rs104894314dbSNPEnsembl.1
Natural variantiVAR_007928294E → K in OCA1A and OCA1B. 3 PublicationsCorresponds to variant rs757754120dbSNPEnsembl.1
Natural variantiVAR_007675325T → A in OCA1B. Corresponds to variant rs61754379dbSNPEnsembl.1
Natural variantiVAR_007681380S → P in OCA1B. Corresponds to variant rs61754391dbSNPEnsembl.1
Natural variantiVAR_007684390H → D in OCA1B. Corresponds to variant rs62645914dbSNPEnsembl.1
Natural variantiVAR_007937402R → G in OCA1B. 1
Natural variantiVAR_007687403R → S in OCA1A and OCA1B. 3 PublicationsCorresponds to variant rs104894316dbSNPEnsembl.1
Natural variantiVAR_007689406P → L in OCA1A and OCA1B. 3 PublicationsCorresponds to variant rs104894313dbSNPEnsembl.1
Natural variantiVAR_007691422R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 PublicationsCorresponds to variant rs61754393dbSNPEnsembl.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 rs61753177dbSNPEnsembl.1
Natural variantiVAR_00765021P → S in OCA1A. 1 PublicationCorresponds to variant rs61753178dbSNPEnsembl.1
Natural variantiVAR_02168336C → Y in OCA1A. 1 PublicationCorresponds to variant rs61753179dbSNPEnsembl.1
Natural variantiVAR_00765142D → G in OCA1A. 1 PublicationCorresponds to variant rs28940878dbSNPEnsembl.1
Natural variantiVAR_02168444S → G in OCA1A. 1 Publication1
Natural variantiVAR_02168544S → R in OCA1A. 1 PublicationCorresponds to variant rs755700581dbSNPEnsembl.1
Natural variantiVAR_00765247G → D in OCA1A. 3 PublicationsCorresponds to variant rs61753180dbSNPEnsembl.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 rs61753182dbSNPEnsembl.1
Natural variantiVAR_00765455C → Y in OCA1A. 2 PublicationsCorresponds to variant rs28940879dbSNPEnsembl.1
Natural variantiVAR_02168768Q → H in OCA1A. 1 Publication1
Natural variantiVAR_00765577R → Q in OCA1A. 3 PublicationsCorresponds to variant rs61753185dbSNPEnsembl.1
Natural variantiVAR_00923677R → RR in OCA1A. 1 Publication1
Natural variantiVAR_00765677R → W in OCA1A. 2 PublicationsCorresponds to variant rs61753184dbSNPEnsembl.1
Natural variantiVAR_02168879S → L in OCA1A. 1 PublicationCorresponds to variant rs544053015dbSNPEnsembl.1
Natural variantiVAR_00765780W → R in OCA1A. Corresponds to variant rs61753188dbSNPEnsembl.1
Natural variantiVAR_00765881P → L in OCA1A. 3 PublicationsCorresponds to variant rs28940876dbSNPEnsembl.1
Natural variantiVAR_00765989C → R in OCA1A. 1 PublicationCorresponds to variant rs28940877dbSNPEnsembl.1
Natural variantiVAR_07259391C → Y in OCA1A. 1 PublicationCorresponds to variant rs137854890dbSNPEnsembl.1
Natural variantiVAR_00766097G → R in OCA1A. 1 PublicationCorresponds to variant rs61753252dbSNPEnsembl.1
Natural variantiVAR_021689109G → R in OCA1A. 1 PublicationCorresponds to variant rs61753253dbSNPEnsembl.1
Natural variantiVAR_034576134F → C.Corresponds to variant rs33955261dbSNPEnsembl.1
Natural variantiVAR_042665142K → N.Corresponds to variant rs11545463dbSNPEnsembl.1
Natural variantiVAR_007925152P → S in OCA1B. 1 PublicationCorresponds to variant rs145513733dbSNPEnsembl.1
Natural variantiVAR_021690155T → S in OCA1A. 1 Publication1
Natural variantiVAR_007661176F → I in OCA1A. 1 PublicationCorresponds to variant rs61753259dbSNPEnsembl.1
Natural variantiVAR_021691177V → F in OCA1A. 1 PublicationCorresponds to variant rs138487695dbSNPEnsembl.1
Natural variantiVAR_021692179M → L in OCA1A. 1 Publication1
Natural variantiVAR_021693180H → N in OCA1A. 1 PublicationCorresponds to variant rs779878377dbSNPEnsembl.1
Natural variantiVAR_007662192S → Y Associated with SHEP3; light/dark skin. 7 PublicationsCorresponds to variant rs1042602dbSNPEnsembl.1
Natural variantiVAR_071756198I → T in OCA1A. 1 PublicationCorresponds to variant rs750553908dbSNPEnsembl.1
Natural variantiVAR_021694199D → N in OCA1A. 1 Publication1
Natural variantiVAR_021695201A → S in OCA1A. 1 Publication1
Natural variantiVAR_021696205P → T in OCA1A. 1 PublicationCorresponds to variant rs61754362dbSNPEnsembl.1
Natural variantiVAR_007663206A → T in OCA1A. 1 PublicationCorresponds to variant rs28940880dbSNPEnsembl.1
Natural variantiVAR_007664216L → M in OCA1A. Corresponds to variant rs61754363dbSNPEnsembl.1
Natural variantiVAR_007665217R → G in OCA1A. Corresponds to variant rs63159160dbSNPEnsembl.1
Natural variantiVAR_007667217R → Q in OCA1A. 2 PublicationsCorresponds to variant rs61754365dbSNPEnsembl.1
Natural variantiVAR_021697217R → S in OCA1A. 1 Publication1
Natural variantiVAR_007666217R → W in OCA1A. 2 PublicationsCorresponds to variant rs63159160dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs61754367dbSNPEnsembl.1
Natural variantiVAR_021701239R → W in OCA1A. 1 PublicationCorresponds to variant rs774670098dbSNPEnsembl.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 rs61754369dbSNPEnsembl.1
Natural variantiVAR_021704256H → Y in OCA1A. 2 PublicationsCorresponds to variant rs61754370dbSNPEnsembl.1
Natural variantiVAR_021705272W → C in OCA1A. 1 PublicationCorresponds to variant rs62645902dbSNPEnsembl.1
Natural variantiVAR_007669275V → F in OCA1B and OCA1A. 3 PublicationsCorresponds to variant rs104894314dbSNPEnsembl.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. 3 PublicationsCorresponds to variant rs757754120dbSNPEnsembl.1
Natural variantiVAR_072594298R → W in OCA1A. 1 PublicationCorresponds to variant rs200854796dbSNPEnsembl.1
Natural variantiVAR_007671299R → H in OCA1A. 3 PublicationsCorresponds to variant rs61754375dbSNPEnsembl.1
Natural variantiVAR_007672299R → S in OCA1A. 1 PublicationCorresponds to variant rs61754374dbSNPEnsembl.1
Natural variantiVAR_011825308R → T.Corresponds to variant rs1042608dbSNPEnsembl.1
Natural variantiVAR_007673312L → V in OCA1. Corresponds to variant rs61754377dbSNPEnsembl.1
Natural variantiVAR_007674313P → R in OCA1. Corresponds to variant rs61754378dbSNPEnsembl.1
Natural variantiVAR_021707318V → E in OCA1A. 1 Publication1
Natural variantiVAR_007675325T → A in OCA1B. Corresponds to variant rs61754379dbSNPEnsembl.1
Natural variantiVAR_007929328E → Q in OCA1A. 1 PublicationCorresponds to variant rs61754380dbSNPEnsembl.1
Natural variantiVAR_021708329S → P in OCA1A. 1 Publication1
Natural variantiVAR_021709332M → T in OCA1A. 1 PublicationCorresponds to variant rs372534292dbSNPEnsembl.1
Natural variantiVAR_007676339S → G in OCA1A. 1 PublicationCorresponds to variant rs62645906dbSNPEnsembl.1
Natural variantiVAR_007677340F → L in OCA1. Corresponds to variant rs62645907dbSNPEnsembl.1
Natural variantiVAR_021710345E → G in OCA1A. 1 Publication1
Natural variantiVAR_007930346G → E in OCA1A. Corresponds to variant rs773970123dbSNPEnsembl.1
Natural variantiVAR_007931355A → E in OCA1A. 1
Natural variantiVAR_007678355A → P in OCA1A. 3 PublicationsCorresponds to variant rs62645908dbSNPEnsembl.1
Natural variantiVAR_072595355A → V in OCA1A. 1 PublicationCorresponds to variant rs151206295dbSNPEnsembl.1
Natural variantiVAR_007932361S → R in OCA1A. 1 PublicationCorresponds to variant rs61754383dbSNPEnsembl.1
Natural variantiVAR_072596364N → H in OCA1A. 1 Publication1
Natural variantiVAR_007933367H → Y in OCA1A. 1 PublicationCorresponds to variant rs776054795dbSNPEnsembl.1
Natural variantiVAR_007934370M → T in OCA1A. 1 PublicationCorresponds to variant rs61754385dbSNPEnsembl.1
Natural variantiVAR_007679371N → T in OCA1A. Corresponds to variant rs61754387dbSNPEnsembl.1
Natural variantiVAR_007935371N → Y in OCA1A. 2 PublicationsCorresponds to variant rs61754386dbSNPEnsembl.1
Natural variantiVAR_007680373T → K in OCA1A. 7 PublicationsCorresponds to variant rs61754388dbSNPEnsembl.1
Natural variantiVAR_021711378Q → K in OCA1A. 1 Publication1
Natural variantiVAR_007681380S → P in OCA1B. Corresponds to variant rs61754391dbSNPEnsembl.1
Natural variantiVAR_007682382N → K in OCA1A. Corresponds to variant rs104894315dbSNPEnsembl.1
Natural variantiVAR_007683383D → N in OCA1A. 3 PublicationsCorresponds to variant rs121908011dbSNPEnsembl.1
Natural variantiVAR_072597384P → A in OCA1A. 1 Publication1
Natural variantiVAR_007684390H → D in OCA1B. Corresponds to variant rs62645914dbSNPEnsembl.1
Natural variantiVAR_007936393V → F in OCA1A. 1 Publication1
Natural variantiVAR_007685395S → N in OCA1A. Corresponds to variant rs752344007dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs62645916dbSNPEnsembl.1
Natural variantiVAR_007937402R → G in OCA1B. 1
Natural variantiVAR_021715402R → L in OCA1A. 1 Publication1
Natural variantiVAR_007686402R → Q.5 PublicationsCorresponds to variant rs1126809dbSNPEnsembl.1
Natural variantiVAR_007687403R → S in OCA1A and OCA1B. 3 PublicationsCorresponds to variant rs104894316dbSNPEnsembl.1
Natural variantiVAR_021716404H → N in OCA1A. 1 Publication1
Natural variantiVAR_007688404H → P in OCA-I. Corresponds to variant rs62645920dbSNPEnsembl.1
Natural variantiVAR_021717405R → L in OCA1A. 1 Publication1
Natural variantiVAR_007689406P → L in OCA1A and OCA1B. 3 PublicationsCorresponds to variant rs104894313dbSNPEnsembl.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. 4 PublicationsCorresponds to variant rs61754392dbSNPEnsembl.1
Natural variantiVAR_007691422R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 PublicationsCorresponds to variant rs61754393dbSNPEnsembl.1
Natural variantiVAR_021722424S → F in OCA1A. 1 PublicationCorresponds to variant rs758747581dbSNPEnsembl.1
Natural variantiVAR_021723426M → K in OCA1A. 1 Publication1
Natural variantiVAR_021724427V → G in OCA1A. 1 Publication1
Natural variantiVAR_007938431P → L in OCA1A. 1 PublicationCorresponds to variant rs281865325dbSNPEnsembl.1
Natural variantiVAR_021725434R → I in OCA1A. 1 Publication1
Natural variantiVAR_021726435N