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P14679

- TYRO_HUMAN

UniProt

P14679 - TYRO_HUMAN

Protein

Tyrosinase

Gene

TYR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 172 (01 Oct 2014)
      Sequence version 3 (01 Jul 1993)
      Previous versions | rss
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    Functioni

    This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone.

    Catalytic activityi

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

    Cofactori

    Binds 2 copper ions per subunit.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi180 – 1801Copper ABy similarity
    Metal bindingi202 – 2021Copper ABy similarity
    Metal bindingi211 – 2111Copper ABy similarity
    Metal bindingi363 – 3631Copper BBy similarity
    Metal bindingi367 – 3671Copper BBy similarity
    Metal bindingi390 – 3901Copper BBy similarity

    GO - Molecular functioni

    1. copper ion binding Source: UniProtKB
    2. monophenol monooxygenase activity Source: UniProtKB
    3. protein binding Source: UniProtKB
    4. protein heterodimerization activity Source: UniProtKB
    5. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. cell proliferation Source: Ensembl
    2. eye pigment biosynthetic process Source: ProtInc
    3. melanin biosynthetic process from tyrosine Source: ProtInc
    4. thymus development Source: Ensembl
    5. visual perception Source: ProtInc

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase, Tumor antigen

    Keywords - Biological processi

    Melanin biosynthesis

    Keywords - Ligandi

    Copper, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01248-MONOMER.

    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
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:12442. TYR.

    Subcellular locationi

    Melanosome membrane 2 Publications; Single-pass type I membrane protein 2 Publications

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. Golgi-associated vesicle Source: ProtInc
    3. integral component of membrane Source: UniProtKB-KW
    4. lysosome Source: UniProtKB
    5. melanosome Source: UniProtKB
    6. melanosome membrane Source: UniProtKB-SubCell
    7. perinuclear region of cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]: An 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.17 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191H → Q in OCA1A.
    VAR_007649
    Natural varianti21 – 211P → S in OCA1A. 1 Publication
    VAR_007650
    Natural varianti36 – 361C → Y in OCA1A. 1 Publication
    VAR_021683
    Natural varianti42 – 421D → G in OCA1A. 1 Publication
    Corresponds to variant rs28940878 [ dbSNP | Ensembl ].
    VAR_007651
    Natural varianti44 – 441S → G in OCA1A. 1 Publication
    VAR_021684
    Natural varianti44 – 441S → R in OCA1A. 1 Publication
    VAR_021685
    Natural varianti47 – 471G → D in OCA1A. 3 Publications
    Corresponds to variant rs61753180 [ dbSNP | Ensembl ].
    VAR_007652
    Natural varianti47 – 471G → V in OCA1A. 1 Publication
    VAR_021686
    Natural varianti55 – 551C → Y in OCA1A. 2 Publications
    Corresponds to variant rs28940879 [ dbSNP | Ensembl ].
    VAR_007654
    Natural varianti68 – 681Q → H in OCA1A. 1 Publication
    VAR_021687
    Natural varianti77 – 771R → Q in OCA1A. 3 Publications
    Corresponds to variant rs61753185 [ dbSNP | Ensembl ].
    VAR_007655
    Natural varianti77 – 771R → RR in OCA1A. 1 Publication
    VAR_009236
    Natural varianti77 – 771R → W in OCA1A. 1 Publication
    Corresponds to variant rs61753184 [ dbSNP | Ensembl ].
    VAR_007656
    Natural varianti79 – 791S → L in OCA1A. 1 Publication
    VAR_021688
    Natural varianti80 – 801W → R in OCA1A.
    VAR_007657
    Natural varianti81 – 811P → L in OCA1A. 3 Publications
    Corresponds to variant rs28940876 [ dbSNP | Ensembl ].
    VAR_007658
    Natural varianti89 – 891C → R in OCA1A. 1 Publication
    Corresponds to variant rs28940877 [ dbSNP | Ensembl ].
    VAR_007659
    Natural varianti97 – 971G → R in OCA1A. 1 Publication
    VAR_007660
    Natural varianti109 – 1091G → R in OCA1A. 1 Publication
    VAR_021689
    Natural varianti155 – 1551T → S in OCA1A. 1 Publication
    VAR_021690
    Natural varianti176 – 1761F → I in OCA1A. 1 Publication
    VAR_007661
    Natural varianti177 – 1771V → F in OCA1A. 1 Publication
    Corresponds to variant rs138487695 [ dbSNP | Ensembl ].
    VAR_021691
    Natural varianti179 – 1791M → L in OCA1A. 1 Publication
    VAR_021692
    Natural varianti180 – 1801H → N in OCA1A. 1 Publication
    VAR_021693
    Natural varianti199 – 1991D → N in OCA1A. 1 Publication
    VAR_021694
    Natural varianti201 – 2011A → S in OCA1A. 1 Publication
    VAR_021695
    Natural varianti205 – 2051P → T in OCA1A. 1 Publication
    Corresponds to variant rs61754362 [ dbSNP | Ensembl ].
    VAR_021696
    Natural varianti206 – 2061A → T in OCA1A. 1 Publication
    Corresponds to variant rs28940880 [ dbSNP | Ensembl ].
    VAR_007663
    Natural varianti216 – 2161L → M in OCA1A.
    VAR_007664
    Natural varianti217 – 2171R → G in OCA1A.
    VAR_007665
    Natural varianti217 – 2171R → Q in OCA1A. 2 Publications
    VAR_007667
    Natural varianti217 – 2171R → S in OCA1A. 1 Publication
    VAR_021697
    Natural varianti217 – 2171R → W in OCA1A. 2 Publications
    VAR_007666
    Natural varianti217 – 2171Missing in OCA1A.
    VAR_007926
    Natural varianti227 – 2271Missing in OCA1A.
    VAR_021698
    Natural varianti236 – 2361W → L in OCA1A. 1 Publication
    VAR_021699
    Natural varianti236 – 2361W → S in OCA1A. 1 Publication
    VAR_021700
    Natural varianti239 – 2391R → W in OCA1A. 1 Publication
    VAR_021701
    Natural varianti240 – 2401D → V in OCA1A. 1 Publication
    VAR_021702
    Natural varianti243 – 2431K → T in OCA1A. 1 Publication
    VAR_021703
    Natural varianti253 – 2531G → R in OCA1A.
    VAR_007668
    Natural varianti256 – 2561H → Y in OCA1A. 2 Publications
    VAR_021704
    Natural varianti272 – 2721W → C in OCA1A. 1 Publication
    VAR_021705
    Natural varianti288 – 2881L → S in OCA1A.
    VAR_007927
    Natural varianti289 – 2891C → G in OCA1A. 1 Publication
    VAR_009237
    Natural varianti289 – 2891C → R in OCA1A. 2 Publications
    VAR_007670
    Natural varianti294 – 2941E → G in OCA1A. 1 Publication
    VAR_021706
    Natural varianti294 – 2941E → K in OCA1A and OCA1B. 3 Publications
    VAR_007928
    Natural varianti299 – 2991R → H in OCA1A. 3 Publications
    Corresponds to variant rs61754375 [ dbSNP | Ensembl ].
    VAR_007671
    Natural varianti299 – 2991R → S in OCA1A. 1 Publication
    VAR_007672
    Natural varianti318 – 3181V → E in OCA1A. 1 Publication
    VAR_021707
    Natural varianti328 – 3281E → Q in OCA1A. 1 Publication
    VAR_007929
    Natural varianti329 – 3291S → P in OCA1A. 1 Publication
    VAR_021708
    Natural varianti332 – 3321M → T in OCA1A. 1 Publication
    VAR_021709
    Natural varianti339 – 3391S → G in OCA1A. 1 Publication
    VAR_007676
    Natural varianti345 – 3451E → G in OCA1A. 1 Publication
    VAR_021710
    Natural varianti346 – 3461G → E in OCA1A.
    VAR_007930
    Natural varianti355 – 3551A → E in OCA1A.
    VAR_007931
    Natural varianti355 – 3551A → P in OCA1A. 3 Publications
    VAR_007678
    Natural varianti361 – 3611S → R in OCA1A. 1 Publication
    VAR_007932
    Natural varianti367 – 3671H → Y in OCA1A. 1 Publication
    VAR_007933
    Natural varianti370 – 3701M → T in OCA1A. 1 Publication
    VAR_007934
    Natural varianti371 – 3711N → T in OCA1A.
    VAR_007679
    Natural varianti371 – 3711N → Y in OCA1A. 2 Publications
    VAR_007935
    Natural varianti373 – 3731T → K in OCA1A. 6 Publications
    VAR_007680
    Natural varianti378 – 3781Q → K in OCA1A. 1 Publication
    VAR_021711
    Natural varianti382 – 3821N → K in OCA1A.
    VAR_007682
    Natural varianti383 – 3831D → N in OCA1A. 3 Publications
    VAR_007683
    Natural varianti393 – 3931V → F in OCA1A. 1 Publication
    VAR_007936
    Natural varianti395 – 3951S → N in OCA1A.
    VAR_007685
    Natural varianti395 – 3951S → R in OCA1A. 1 Publication
    VAR_021712
    Natural varianti398 – 3981E → A in OCA1A. 1 Publication
    VAR_021713
    Natural varianti398 – 3981E → V in OCA1A. 1 Publication
    VAR_021714
    Natural varianti400 – 4001W → L in OCA1A. 1 Publication
    VAR_009238
    Natural varianti402 – 4021R → L in OCA1A. 1 Publication
    VAR_021715
    Natural varianti403 – 4031R → S in OCA1A and OCA1B. 3 Publications
    VAR_007687
    Natural varianti404 – 4041H → N in OCA1A. 1 Publication
    VAR_021716
    Natural varianti405 – 4051R → L in OCA1A. 1 Publication
    VAR_021717
    Natural varianti406 – 4061P → L in OCA1A and OCA1B. 3 Publications
    VAR_007689
    Natural varianti408 – 4081Q → H in OCA1A. 1 Publication
    VAR_021718
    Natural varianti409 – 4091E → D in OCA1A. 1 Publication
    VAR_021719
    Natural varianti416 – 4161A → S in OCA1A. 1 Publication
    VAR_021720
    Natural varianti417 – 4171P → H in OCA1A. 1 Publication
    VAR_021721
    Natural varianti419 – 4191G → R in OCA1A. 4 Publications
    VAR_007690
    Natural varianti422 – 4221R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 Publications
    VAR_007691
    Natural varianti424 – 4241S → F in OCA1A. 1 Publication
    VAR_021722
    Natural varianti426 – 4261M → K in OCA1A. 1 Publication
    VAR_021723
    Natural varianti427 – 4271V → G in OCA1A. 1 Publication
    VAR_021724
    Natural varianti431 – 4311P → L in OCA1A. 1 Publication
    VAR_007938
    Natural varianti434 – 4341R → I in OCA1A. 1 Publication
    VAR_021725
    Natural varianti435 – 4351N → D in OCA1A. 1 Publication
    VAR_021726
    Natural varianti439 – 4391F → V in OCA1A. 1 Publication
    VAR_021727
    Natural varianti444 – 4441D → G in OCA1A. 1 Publication
    VAR_021728
    Natural varianti446 – 4461G → S in OCA1A. 3 Publications
    VAR_007692
    Natural varianti448 – 4481D → N in OCA1A. 3 Publications
    VAR_007693
    Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]: An 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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521P → S in OCA1B. 1 Publication
    VAR_007925
    Natural varianti275 – 2751V → F in OCA1B. 2 Publications
    Corresponds to variant rs104894314 [ dbSNP | Ensembl ].
    VAR_007669
    Natural varianti294 – 2941E → K in OCA1A and OCA1B. 3 Publications
    VAR_007928
    Natural varianti325 – 3251T → A in OCA1B.
    VAR_007675
    Natural varianti380 – 3801S → P in OCA1B.
    VAR_007681
    Natural varianti390 – 3901H → D in OCA1B.
    VAR_007684
    Natural varianti402 – 4021R → G in OCA1B.
    VAR_007937
    Natural varianti403 – 4031R → S in OCA1A and OCA1B. 3 Publications
    VAR_007687
    Natural varianti406 – 4061P → L in OCA1A and OCA1B. 3 Publications
    VAR_007689
    Natural varianti422 – 4221R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 Publications
    VAR_007691

    Keywords - Diseasei

    Albinism, Deafness, Disease mutation, Waardenburg syndrome

    Organism-specific databases

    MIMi103470. phenotype.
    203100. phenotype.
    601800. phenotype.
    606952. phenotype.
    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.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 529511TyrosinasePRO_0000035879Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi86 – 861N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi111 – 1111N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi161 – 1611N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi230 – 2301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi337 – 3371N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi371 – 3711N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP14679.
    PRIDEiP14679.

    PTM databases

    PhosphoSiteiP14679.

    Expressioni

    Inductioni

    Increased expression after UVB irradiation.

    Gene expression databases

    BgeeiP14679.
    CleanExiHS_TYR.
    GenevestigatoriP14679.

    Organism-specific databases

    HPAiCAB000079.

    Interactioni

    Protein-protein interaction databases

    BioGridi113150. 2 interactions.
    STRINGi9606.ENSP00000263321.

    Structurei

    3D structure databases

    ProteinModelPortaliP14679.
    SMRiP14679. Positions 172-449.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini19 – 476458Lumenal, melanosomeSequence AnalysisAdd
    BLAST
    Topological domaini498 – 52932CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei477 – 49721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the tyrosinase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG08919.
    HOVERGENiHBG003553.
    InParanoidiP14679.
    KOiK00505.
    OMAiCLSLTQY.
    OrthoDBiEOG7TJ3HG.
    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. Align

    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

    MLLAVLYCLL WSFQTSAGHF PRACVSSKNL MEKECCPPWS GDRSPCGQLS    50
    GRGSCQNILL SNAPLGPQFP FTGVDDRESW PSVFYNRTCQ CSGNFMGFNC 100
    GNCKFGFWGP NCTERRLLVR RNIFDLSAPE KDKFFAYLTL AKHTISSDYV 150
    IPIGTYGQMK NGSTPMFNDI NIYDLFVWMH YYVSMDALLG GSEIWRDIDF 200
    AHEAPAFLPW HRLFLLRWEQ EIQKLTGDEN FTIPYWDWRD AEKCDICTDE 250
    YMGGQHPTNP NLLSPASFFS SWQIVCSRLE EYNSHQSLCN GTPEGPLRRN 300
    PGNHDKSRTP RLPSSADVEF CLSLTQYESG SMDKAANFSF RNTLEGFASP 350
    LTGIADASQS SMHNALHIYM NGTMSQVQGS ANDPIFLLHH AFVDSIFEQW 400
    LRRHRPLQEV YPEANAPIGH NRESYMVPFI PLYRNGDFFI SSKDLGYDYS 450
    YLQDSDPDSF QDYIKSYLEQ ASRIWSWLLG AAMVGAVLTA LLAGLVSLLC 500
    RHKRKQLPEE KQPLLMEKED YHSLYQSHL 529
    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 AAA61241.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAA68756.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti42 – 454DRSP → TGV in AAA61241. (PubMed:2823263)Curated
    Sequence conflicti179 – 1791M → I in CAA68756. (PubMed:2499655)Curated
    Sequence conflicti373 – 3786TMSQVQ → HVPGT in AAA61241. (PubMed:2823263)Curated
    Sequence conflicti495 – 4951L → P in AAA61241. (PubMed:2823263)Curated
    Sequence conflicti495 – 4951L → P in AAA61244. (PubMed:2823263)Curated
    Sequence conflicti520 – 5234DYHS → GLPQ(PubMed:2823263)Curated
    Sequence conflicti525 – 5284YQSH → VSEPFIKGLGNRVGPKSPDL TLTQSNVQVPENICWYFL(PubMed:2823263)Curated

    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.
    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191H → Q in OCA1A.
    VAR_007649
    Natural varianti21 – 211P → S in OCA1A. 1 Publication
    VAR_007650
    Natural varianti36 – 361C → Y in OCA1A. 1 Publication
    VAR_021683
    Natural varianti42 – 421D → G in OCA1A. 1 Publication
    Corresponds to variant rs28940878 [ dbSNP | Ensembl ].
    VAR_007651
    Natural varianti44 – 441S → G in OCA1A. 1 Publication
    VAR_021684
    Natural varianti44 – 441S → R in OCA1A. 1 Publication
    VAR_021685
    Natural varianti47 – 471G → D in OCA1A. 3 Publications
    Corresponds to variant rs61753180 [ dbSNP | Ensembl ].
    VAR_007652
    Natural varianti47 – 471G → V in OCA1A. 1 Publication
    VAR_021686
    Natural varianti52 – 521R → I in OCA1.
    VAR_007653
    Natural varianti55 – 551C → Y in OCA1A. 2 Publications
    Corresponds to variant rs28940879 [ dbSNP | Ensembl ].
    VAR_007654
    Natural varianti68 – 681Q → H in OCA1A. 1 Publication
    VAR_021687
    Natural varianti77 – 771R → Q in OCA1A. 3 Publications
    Corresponds to variant rs61753185 [ dbSNP | Ensembl ].
    VAR_007655
    Natural varianti77 – 771R → RR in OCA1A. 1 Publication
    VAR_009236
    Natural varianti77 – 771R → W in OCA1A. 1 Publication
    Corresponds to variant rs61753184 [ dbSNP | Ensembl ].
    VAR_007656
    Natural varianti79 – 791S → L in OCA1A. 1 Publication
    VAR_021688
    Natural varianti80 – 801W → R in OCA1A.
    VAR_007657
    Natural varianti81 – 811P → L in OCA1A. 3 Publications
    Corresponds to variant rs28940876 [ dbSNP | Ensembl ].
    VAR_007658
    Natural varianti89 – 891C → R in OCA1A. 1 Publication
    Corresponds to variant rs28940877 [ dbSNP | Ensembl ].
    VAR_007659
    Natural varianti97 – 971G → R in OCA1A. 1 Publication
    VAR_007660
    Natural varianti109 – 1091G → R in OCA1A. 1 Publication
    VAR_021689
    Natural varianti134 – 1341F → C.
    Corresponds to variant rs33955261 [ dbSNP | Ensembl ].
    VAR_034576
    Natural varianti142 – 1421K → N.
    Corresponds to variant rs11545463 [ dbSNP | Ensembl ].
    VAR_042665
    Natural varianti152 – 1521P → S in OCA1B. 1 Publication
    VAR_007925
    Natural varianti155 – 1551T → S in OCA1A. 1 Publication
    VAR_021690
    Natural varianti176 – 1761F → I in OCA1A. 1 Publication
    VAR_007661
    Natural varianti177 – 1771V → F in OCA1A. 1 Publication
    Corresponds to variant rs138487695 [ dbSNP | Ensembl ].
    VAR_021691
    Natural varianti179 – 1791M → L in OCA1A. 1 Publication
    VAR_021692
    Natural varianti180 – 1801H → N in OCA1A. 1 Publication
    VAR_021693
    Natural varianti192 – 1921S → Y Associated with SHEP3; light/dark skin. 7 Publications
    Corresponds to variant rs1042602 [ dbSNP | Ensembl ].
    VAR_007662
    Natural varianti199 – 1991D → N in OCA1A. 1 Publication
    VAR_021694
    Natural varianti201 – 2011A → S in OCA1A. 1 Publication
    VAR_021695
    Natural varianti205 – 2051P → T in OCA1A. 1 Publication
    Corresponds to variant rs61754362 [ dbSNP | Ensembl ].
    VAR_021696
    Natural varianti206 – 2061A → T in OCA1A. 1 Publication
    Corresponds to variant rs28940880 [ dbSNP | Ensembl ].
    VAR_007663
    Natural varianti216 – 2161L → M in OCA1A.
    VAR_007664
    Natural varianti217 – 2171R → G in OCA1A.
    VAR_007665
    Natural varianti217 – 2171R → Q in OCA1A. 2 Publications
    VAR_007667
    Natural varianti217 – 2171R → S in OCA1A. 1 Publication
    VAR_021697
    Natural varianti217 – 2171R → W in OCA1A. 2 Publications
    VAR_007666
    Natural varianti217 – 2171Missing in OCA1A.
    VAR_007926
    Natural varianti227 – 2271Missing in OCA1A.
    VAR_021698
    Natural varianti236 – 2361W → L in OCA1A. 1 Publication
    VAR_021699
    Natural varianti236 – 2361W → S in OCA1A. 1 Publication
    VAR_021700
    Natural varianti239 – 2391R → W in OCA1A. 1 Publication
    VAR_021701
    Natural varianti240 – 2401D → V in OCA1A. 1 Publication
    VAR_021702
    Natural varianti243 – 2431K → T in OCA1A. 1 Publication
    VAR_021703
    Natural varianti253 – 2531G → R in OCA1A.
    VAR_007668
    Natural varianti256 – 2561H → Y in OCA1A. 2 Publications
    VAR_021704
    Natural varianti272 – 2721W → C in OCA1A. 1 Publication
    VAR_021705
    Natural varianti275 – 2751V → F in OCA1B. 2 Publications
    Corresponds to variant rs104894314 [ dbSNP | Ensembl ].
    VAR_007669
    Natural varianti288 – 2881L → S in OCA1A.
    VAR_007927
    Natural varianti289 – 2891C → G in OCA1A. 1 Publication
    VAR_009237
    Natural varianti289 – 2891C → R in OCA1A. 2 Publications
    VAR_007670
    Natural varianti294 – 2941E → G in OCA1A. 1 Publication
    VAR_021706
    Natural varianti294 – 2941E → K in OCA1A and OCA1B. 3 Publications
    VAR_007928
    Natural varianti299 – 2991R → H in OCA1A. 3 Publications
    Corresponds to variant rs61754375 [ dbSNP | Ensembl ].
    VAR_007671
    Natural varianti299 – 2991R → S in OCA1A. 1 Publication
    VAR_007672
    Natural varianti308 – 3081R → T.
    Corresponds to variant rs1042608 [ dbSNP | Ensembl ].
    VAR_011825
    Natural varianti312 – 3121L → V in OCA1.
    VAR_007673
    Natural varianti313 – 3131P → R in OCA1.
    VAR_007674
    Natural varianti318 – 3181V → E in OCA1A. 1 Publication
    VAR_021707
    Natural varianti325 – 3251T → A in OCA1B.
    VAR_007675
    Natural varianti328 – 3281E → Q in OCA1A. 1 Publication
    VAR_007929
    Natural varianti329 – 3291S → P in OCA1A. 1 Publication
    VAR_021708
    Natural varianti332 – 3321M → T in OCA1A. 1 Publication
    VAR_021709
    Natural varianti339 – 3391S → G in OCA1A. 1 Publication
    VAR_007676
    Natural varianti340 – 3401F → L in OCA1.
    VAR_007677
    Natural varianti345 – 3451E → G in OCA1A. 1 Publication
    VAR_021710
    Natural varianti346 – 3461G → E in OCA1A.
    VAR_007930
    Natural varianti355 – 3551A → E in OCA1A.
    VAR_007931
    Natural varianti355 – 3551A → P in OCA1A. 3 Publications
    VAR_007678
    Natural varianti361 – 3611S → R in OCA1A. 1 Publication
    VAR_007932
    Natural varianti367 – 3671H → Y in OCA1A. 1 Publication
    VAR_007933
    Natural varianti370 – 3701M → T in OCA1A. 1 Publication
    VAR_007934
    Natural varianti371 – 3711N → T in OCA1A.
    VAR_007679
    Natural varianti371 – 3711N → Y in OCA1A. 2 Publications
    VAR_007935
    Natural varianti373 – 3731T → K in OCA1A. 6 Publications
    VAR_007680
    Natural varianti378 – 3781Q → K in OCA1A. 1 Publication
    VAR_021711
    Natural varianti380 – 3801S → P in OCA1B.
    VAR_007681
    Natural varianti382 – 3821N → K in OCA1A.
    VAR_007682
    Natural varianti383 – 3831D → N in OCA1A. 3 Publications
    VAR_007683
    Natural varianti390 – 3901H → D in OCA1B.
    VAR_007684
    Natural varianti393 – 3931V → F in OCA1A. 1 Publication
    VAR_007936
    Natural varianti395 – 3951S → N in OCA1A.
    VAR_007685
    Natural varianti395 – 3951S → R in OCA1A. 1 Publication
    VAR_021712
    Natural varianti398 – 3981E → A in OCA1A. 1 Publication
    VAR_021713
    Natural varianti398 – 3981E → V in OCA1A. 1 Publication
    VAR_021714
    Natural varianti400 – 4001W → L in OCA1A. 1 Publication
    VAR_009238
    Natural varianti402 – 4021R → G in OCA1B.
    VAR_007937
    Natural varianti402 – 4021R → L in OCA1A. 1 Publication
    VAR_021715
    Natural varianti402 – 4021R → Q.5 Publications
    Corresponds to variant rs1126809 [ dbSNP | Ensembl ].
    VAR_007686
    Natural varianti403 – 4031R → S in OCA1A and OCA1B. 3 Publications
    VAR_007687
    Natural varianti404 – 4041H → N in OCA1A. 1 Publication
    VAR_021716
    Natural varianti404 – 4041H → P in OCA-I.
    VAR_007688
    Natural varianti405 – 4051R → L in OCA1A. 1 Publication
    VAR_021717
    Natural varianti406 – 4061P → L in OCA1A and OCA1B. 3 Publications
    VAR_007689
    Natural varianti408 – 4081Q → H in OCA1A. 1 Publication
    VAR_021718
    Natural varianti409 – 4091E → D in OCA1A. 1 Publication
    VAR_021719
    Natural varianti416 – 4161A → S in OCA1A. 1 Publication
    VAR_021720
    Natural varianti417 – 4171P → H in OCA1A. 1 Publication
    VAR_021721
    Natural varianti419 – 4191G → R in OCA1A. 4 Publications
    VAR_007690
    Natural varianti422 – 4221R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 Publications
    VAR_007691
    Natural varianti424 – 4241S → F in OCA1A. 1 Publication
    VAR_021722
    Natural varianti426 – 4261M → K in OCA1A. 1 Publication
    VAR_021723
    Natural varianti427 – 4271V → G in OCA1A. 1 Publication
    VAR_021724
    Natural varianti431 – 4311P → L in OCA1A. 1 Publication
    VAR_007938
    Natural varianti434 – 4341R → I in OCA1A. 1 Publication
    VAR_021725
    Natural varianti435 – 4351N → D in OCA1A. 1 Publication
    VAR_021726
    Natural varianti439 – 4391F → V in OCA1A. 1 Publication
    VAR_021727
    Natural varianti444 – 4441D → G in OCA1A. 1 Publication
    VAR_021728
    Natural varianti446 – 4461G → S in OCA1A. 3 Publications
    VAR_007692
    Natural varianti448 – 4481D → N in OCA1A. 3 Publications
    VAR_007693

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei346 – 37732GFASP…TMSQV → EMGFLHVGWAGLKLLTSRDP PPWPPKMLGLQA in isoform 2. 1 PublicationVSP_006701Add
    BLAST
    Alternative sequencei378 – 529152Missing in isoform 2. 1 PublicationVSP_006702Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M27160 mRNA. Translation: AAB37227.1.
    M63239
    , M63235, M63236, M63237, M63238 Genomic DNA. Translation: AAA61242.1.
    J03581 mRNA. Translation: AAA61241.1. Different initiation.
    Y00819 mRNA. Translation: CAA68756.1. Different initiation.
    U01873 mRNA. Translation: AAB60319.1. Sequence problems.
    M74314 mRNA. Translation: AAA61244.1.
    X16073 Genomic DNA. Translation: CAA34205.1.
    AF237811
    , AF237807, AF237808, AF237809, AF237810 Genomic DNA. Translation: AAK00805.1.
    BC027179 mRNA. Translation: AAH27179.1.
    AY012019 Genomic DNA. Translation: AAG38762.1.
    CCDSiCCDS8284.1. [P14679-1]
    PIRiA38444. YRHU1.
    RefSeqiNP_000363.1. NM_000372.4. [P14679-1]
    UniGeneiHs.503555.

    Genome annotation databases

    EnsembliENST00000263321; ENSP00000263321; ENSG00000077498. [P14679-1]
    GeneIDi7299.
    KEGGihsa:7299.
    UCSCiuc001pcs.3. human. [P14679-1]

    Polymorphism databases

    DMDMi401235.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the TYR gene

    Retina International's Scientific Newsletter

    Albinism database (ADB)

    TYR mutations

    Protein Spotlight

    Snowy stardom - Issue 49 of August 2004

    Wikipedia

    Tyrosinase entry

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M27160 mRNA. Translation: AAB37227.1 .
    M63239
    , M63235 , M63236 , M63237 , M63238 Genomic DNA. Translation: AAA61242.1 .
    J03581 mRNA. Translation: AAA61241.1 . Different initiation.
    Y00819 mRNA. Translation: CAA68756.1 . Different initiation.
    U01873 mRNA. Translation: AAB60319.1 . Sequence problems.
    M74314 mRNA. Translation: AAA61244.1 .
    X16073 Genomic DNA. Translation: CAA34205.1 .
    AF237811
    , AF237807 , AF237808 , AF237809 , AF237810 Genomic DNA. Translation: AAK00805.1 .
    BC027179 mRNA. Translation: AAH27179.1 .
    AY012019 Genomic DNA. Translation: AAG38762.1 .
    CCDSi CCDS8284.1. [P14679-1 ]
    PIRi A38444. YRHU1.
    RefSeqi NP_000363.1. NM_000372.4. [P14679-1 ]
    UniGenei Hs.503555.

    3D structure databases

    ProteinModelPortali P14679.
    SMRi P14679. Positions 172-449.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113150. 2 interactions.
    STRINGi 9606.ENSP00000263321.

    Chemistry

    BindingDBi P14679.
    ChEMBLi CHEMBL1973.
    DrugBanki DB00548. Azelaic Acid.
    DB01055. Mimosine.
    DB00157. NADH.
    GuidetoPHARMACOLOGYi 2643.

    PTM databases

    PhosphoSitei P14679.

    Polymorphism databases

    DMDMi 401235.

    Proteomic databases

    PaxDbi P14679.
    PRIDEi P14679.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263321 ; ENSP00000263321 ; ENSG00000077498 . [P14679-1 ]
    GeneIDi 7299.
    KEGGi hsa:7299.
    UCSCi uc001pcs.3. human. [P14679-1 ]

    Organism-specific databases

    CTDi 7299.
    GeneCardsi GC11P088911.
    GeneReviewsi TYR.
    HGNCi HGNC:12442. TYR.
    HPAi CAB000079.
    MIMi 103470. phenotype.
    203100. phenotype.
    601800. phenotype.
    606933. gene.
    606952. phenotype.
    neXtProti NX_P14679.
    Orphaneti 352734. 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.
    PharmGKBi PA37095.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG08919.
    HOVERGENi HBG003553.
    InParanoidi P14679.
    KOi K00505.
    OMAi CLSLTQY.
    OrthoDBi EOG7TJ3HG.
    PhylomeDBi P14679.
    TreeFami TF315865.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS01248-MONOMER.

    Miscellaneous databases

    GeneWikii Tyrosinase.
    GenomeRNAii 7299.
    NextBioi 28547.
    PROi P14679.
    SOURCEi Search...

    Gene expression databases

    Bgeei P14679.
    CleanExi HS_TYR.
    Genevestigatori P14679.

    Family and domain databases

    Gene3Di 1.10.1280.10. 1 hit.
    InterProi IPR002227. Tyrosinase_Cu-bd.
    IPR008922. Unchr_di-copper_centre.
    [Graphical view ]
    Pfami PF00264. Tyrosinase. 1 hit.
    [Graphical view ]
    PRINTSi PR00092. TYROSINASE.
    SUPFAMi SSF48056. SSF48056. 1 hit.
    PROSITEi PS00497. TYROSINASE_1. 1 hit.
    PS00498. TYROSINASE_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment."
      Giebel L.B., Strunk K.M., Spritz R.A.
      Genomics 9:435-445(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    2. "Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus."
      Kwon B.S., Haq A.K., Pomerantz S.H., Halaban R.
      Proc. Natl. Acad. Sci. U.S.A. 84:7473-7477(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. Erratum
      Kwon B.S., Haq A.K., Pomerantz S.H., Halaban R.
      Proc. Natl. Acad. Sci. U.S.A. 85:6352-6352(1988)
      Cited for: SEQUENCE REVISION TO 384-398.
    4. "Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA."
      Bouchard B., Fuller B.B., Vijayasaradhi S., Houghton A.N.
      J. Exp. Med. 169:2029-2042(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Melanoma.
    5. "A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism."
      Chintamaneni C.D., Halaban R., Kobayashi Y., Witkop C.J., Kwon B.S.
      Proc. Natl. Acad. Sci. U.S.A. 88:5272-5276(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    6. "The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas."
      Brichard V., van Pel A., Woelfel T., Woelfel C., de Plaen E., Lethe B.G., Coulie P., Boon T.
      J. Exp. Med. 178:489-495(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1).
      Tissue: Melanoma and T-cell.
    7. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT TYR-192.
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Skin.
    9. "Characteristic sequences in the upstream region of the human tyrosinase gene."
      Kikuchi H., Miura H., Yamamoto H., Takeuchi T., Dei T., Watanabe M.
      Biochim. Biophys. Acta 1009:283-286(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-272.
      Tissue: Liver.
    10. "Functional analysis of the cDNA encoding human tyrosinase precursor."
      Takeda A., Tomita Y., Okinaga S., Tagami H., Shibahara S.
      Biochem. Biophys. Res. Commun. 162:984-990(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-32.
    11. "Molecular phylogenetics and the origins of placental mammals."
      Murphy W.J., Eizirik E., Johnson W.E., Zhang Y.-P., Ryder O.A., O'Brien S.J.
      Nature 409:614-618(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 54-195, VARIANT TYR-192.
    12. "Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene."
      Oetting W.S., King R.A.
      Hum. Mutat. 2:1-6(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON OCA VARIANTS.
    13. "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."
      Oetting W.S., King R.A.
      Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON OCA1 VARIANTS.
    14. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.
    15. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.
    16. "Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism."
      Spritz R.A., Strunk K.M., Giebel L.B., King R.A.
      N. Engl. J. Med. 322:1724-1728(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A LYS-373 AND ASN-383, VARIANTS TYR-192 AND GLN-402.
    17. "A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism."
      Giebel L.B., Strunk K.M., King R.A., Hanifin J.M., Spritz R.A.
      Proc. Natl. Acad. Sci. U.S.A. 87:3255-3258(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OCA1A LEU-81.
    18. "Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism."
      Giebel L.B., Tripathi R.K., Strunk K.M., Hanifin J.M., Jackson C.E., King R.A., Spritz R.A.
      Am. J. Hum. Genet. 48:1159-1167(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1B PHE-275 AND LEU-406.
    19. Erratum
      Giebel L.B., Tripathi R.K., Strunk K.M., Hanifin J.M., Jackson C.E., King R.A., Spritz R.A.
      Am. J. Hum. Genet. 49:696-696(1991)
    20. "Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions."
      Tripathi R.K., Strunk K.M., Giebel L.B., Weleber R.G., Spritz R.A.
      Am. J. Med. Genet. 43:865-871(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A SER-21; TRP-217; HIS-299; SER-403; SER-446 AND ASN-448.
    21. "Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism."
      Spritz R.A., Strunk K.M., Hsieh C.-L., Sekhon G.S., Francke U.
      Am. J. Hum. Genet. 48:318-324(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OCA1A ARG-89.
    22. "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse."
      Giebel L.B., Tripathi R.K., King R.A., Spritz R.A.
      J. Clin. Invest. 87:1119-1122(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OCA1B GLN-422.
    23. "Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism."
      King R.A., Mentink M.M., Oetting W.S.
      Mol. Biol. Med. 8:19-29(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A GLY-42; TYR-55; THR-206 AND ARG-419.
    24. "Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism."
      Oetting W.S., King R.A.
      Hum. Genet. 90:258-262(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A ILE-176 AND GLN-217.
    25. "Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)."
      Tripathi R.K., Bundey S., Musarella M.A., Droetto S., Strunk K.M., Holmes S.A., Spritz R.A.
      Am. J. Hum. Genet. 53:1173-1179(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A GLN-328; ARG-419 AND LEU-431.
    26. "Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel."
      Gershoni-Baruch R., Rosenmann A., Droetto S., Holmes S.A., Tripathi R.K., Spritz R.A.
      Am. J. Hum. Genet. 54:586-594(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A ASP-47; CYS-217 DEL; HIS-299 AND LYS-373, VARIANTS OCA1B SER-152 AND LYS-294.
    27. "Initiation codon mutation of the tyrosinase gene as a cause of human albinism."
      Breimer L.H., Winder A.F., Jay B., Jay M.
      Clin. Chim. Acta 227:17-22(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A TYR-367; THR-370 AND LYS-373, VARIANT GLN-402.
    28. "Diagnosis of oculocutaneous albinism with molecular analysis."
      Summers C.G., Oetting W.S., King R.A.
      Am. J. Ophthalmol. 121:724-726(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A ARG-361 AND TYR-371.
    29. "Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)."
      Morell R., Spritz R.A., Ho L., Pierpont J., Guo W., Friedman T.B., Asher J.H. Jr.
      Hum. Mol. Genet. 6:659-664(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLN-402.
    30. "Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)."
      Spritz R.A., Oh J., Fukai K., Holmes S.A., Ho L., Chitayat D., France T.D., Musarella M.A., Orlow S.J., Schnur R.E., Weleber R.G., Levin A.V.
      Hum. Mutat. 10:171-174(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A AND OCA1B.
    31. "Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)."
      Oetting W.S., Fryer J.P., King R.A.
      Hum. Mutat. 12:433-434(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A AND OCA1B.
    32. Erratum
      Oetting W.S., Fryer J.P., King R.A.
      Hum. Mutat. 13:83-83(1999)
    33. "Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population."
      Passmore L.A., Kaesmann-Kellner B., Weber B.H.F.
      Hum. Genet. 105:200-210(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A TYR-36; GLN-77; TRP-77; LEU-81; ARG-97; GLN-217; TRP-217; SER-236; CYS-272; ARG-289; GLY-294; LYS-294; PRO-355; TYR-371; LYS-373; LEU-406; ARG-419; GLN-422; VAL-439; SER-446 AND ASN-448, VARIANT OCA1B SER-403, VARIANTS TYR-192 AND GLN-402.
    34. Erratum
      Passmore L.A., Kaesmann-Kellner B., Weber B.H.F.
      Hum. Genet. 108:208-208(2001)
    35. "Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan."
      Tsai C.-H., Tsai F.-J., Wu J.-Y., Lin S.-P., Chang J.-G., Yang C.-F., Lee C.-C.
      Hum. Mutat. 14:542-542(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A TYR-55; ARG-77 INS; GLY-289; HIS-299; SER-299 AND LEU-400.
    36. Cited for: VARIANTS OCA1A ASP-47; GLN-77; ARG-109; THR-205; TYR-256; PHE-275; LYS-294; GLY-339; PRO-355; LYS-373; ASN-383 AND SER-446.
    37. "A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)."
      Nakamura E., Miyamura Y., Matsunaga J., Kano Y., Dakeishi-Hara M., Tanita M., Kono M., Tomita Y.
      J. Dermatol. Sci. 28:102-105(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OCA1A TRP-239.
    38. "Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism."
      Opitz S., Kaesmann-Kellner B., Kaufmann M., Schwinger E., Zuehlke C.
      Hum. Mutat. 23:630-631(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS OCA1A ARG-44; GLY-44; ASP-47; VAL-47; HIS-68; GLN-77; LEU-79; LEU-81; SER-155; PHE-177; LEU-179; ASN-180; ASN-199; SER-201; SER-217; LEU-236; VAL-240; THR-243; TYR-256; ARG-289; GLU-318; PRO-329; THR-332; GLY-345; PRO-355; LYS-373; LYS-378; ASN-383; PHE-393; ARG-395; VAL-398; ALA-398; LEU-402; SER-403; ASN-404; LEU-405; LEU-406; HIS-408; ASP-409; SER-416; HIS-417; ARG-419; GLN-422; PHE-424; LYS-426; GLY-427; ILE-434; ASP-435; GLY-444 AND ASN-448, VARIANTS TYR-192 AND GLN-402.
    39. Cited for: VARIANT TYR-192, ASSOCIATION WITH SHEP3.