P14679Q15675Q15676Q15680Q8TAK4Q9BYY0Q9BZX1TYRO_HUMANTyrosinase1.14.18.1LB24-ABMonophenol monooxygenaseSK29-ABTumor rejection antigen ABTYRHomo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoOrganization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1)Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)ERRATUM OF PUBMED:2823263SEQUENCE REVISION TO 384-398Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas.NUCLEOTIDE SEQUENCE (ISOFORM 1)The tyrosinase gene in gorillas and the albinism of 'Snowflake'.NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1)VARIANT TYR-192The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)Characteristic sequences in the upstream region of the human tyrosinase gene.NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-272Functional analysis of the cDNA encoding human tyrosinase precursor.NUCLEOTIDE SEQUENCE [MRNA] OF 1-32Molecular phylogenetics and the origins of placental mammals.NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 54-195VARIANT TYR-192Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.REVIEW ON OCA VARIANTSMolecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.REVIEW ON OCA1 VARIANTSProteomic analysis of early melanosomes: identification of novel melanosomal proteins.SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]Structure of Human Tyrosinase Related Protein1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis.FUNCTIONCATALYTIC ACTIVITYMelanocytes Sense Blue Light and Regulate Pigmentation through Opsin-3.INTERACTION WITH DCTDetection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.VARIANTS OCA1A LYS-373 AND ASN-383VARIANTS TYR-192 AND GLN-402A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.VARIANT OCA1A LEU-81Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism.VARIANTS OCA1B PHE-275 AND LEU-406ERRATUM OF PUBMED:1903591Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.VARIANTS OCA1A SER-21; TRP-217; HIS-299; SER-403; SER-446 AND ASN-448Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.VARIANT OCA1A ARG-89A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.VARIANT OCA1B GLN-422Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.VARIANTS OCA1A GLY-42; TYR-55; THR-206 AND ARG-419Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.VARIANTS OCA1A ILE-176 AND GLN-217Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).VARIANTS OCA1A GLN-328; ARG-419 AND LEU-431Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.VARIANTS OCA1A ASP-47; CYS-217 DEL; HIS-299 AND LYS-373VARIANTS OCA1B SER-152 AND LYS-294Initiation codon mutation of the tyrosinase gene as a cause of human albinism.VARIANTS OCA1A TYR-367; THR-370 AND LYS-373VARIANT GLN-402Diagnosis of oculocutaneous albinism with molecular analysis.VARIANTS OCA1A ARG-361 AND TYR-371Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).VARIANT GLN-402Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).VARIANTS OCA1A AND OCA1BMutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1).VARIANTS OCA1A AND OCA1BERRATUM OF PUBMED:10671066Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.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-448VARIANT OCA1B SER-403VARIANTS TYR-192 AND GLN-402ERRATUM OF PUBMED:10987646Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan.VARIANTS OCA1A TYR-55; ARG-77 INS; GLY-289; HIS-299; SER-299 AND LEU-400Mutation analysis of the tyrosinase gene in oculocutaneous albinism.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-446A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).VARIANT OCA1A TRP-239Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.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-448VARIANTS TYR-192 AND GLN-402A genomewide association study of skin pigmentation in a South Asian population.VARIANT TYR-192ASSOCIATION WITH SHEP3Genetic determinants of hair, eye and skin pigmentation in Europeans.VARIANT TYR-192ASSOCIATION WITH SHEP3A population-based study of autosomal-recessive disease-causing mutations in a founder population.VARIANT OCA1A TYR-91DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.VARIANTS OCA1A LEU-50; TRP-77; PHE-275; TRP-298; VAL-355; HIS-364; LYS-373; ALA-384 AND ASP-490Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.VARIANT OCA1A THR-198This 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 (By similarity). 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 (PubMed:28661582).2 L-dopa + O2 = 2 H2O + 2 L-dopaquinoneL-tyrosine + O2 = H2O + L-dopaquinone2 5,6-dihydroxyindole-2-carboxylate + O2 = 2 H2O + 2 indole-5,6-quinone-2-carboxylateCu(2+)Binds 2 copper ions per subunit.Forms an OPN3-dependent complex with DCT in response to blue light in melanocytes.P14679P51810false4P14679-2Q14457false3P14679-2P26641false3P14679-2Q8WTV1false3P14679-2Q6ZMY6-2false3Melanosome membraneSingle-pass type I membrane proteinMelanosomeProper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38.P14679-11P14679-22Increased expression after UVB irradiation.Glycosylated.Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIM: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 in association with a deletion in the MITF gene.Albinism, oculocutaneous, 1A
OCA1A
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.The disease is caused by variants affecting the gene represented in this entry.Albinism, oculocutaneous, 1B
OCA1B
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.The disease is caused by variants affecting the gene represented in this entry.Belongs to the tyrosinase family.Extended N-terminus.Extended N-terminus.Retina International's Scientific NewsletterTYR mutationsSnowy stardom - Issue 49 of August 2004Tyrosinase entry3D-structureAlbinismAlternative splicingCopperDeafnessDisease variantGlycoproteinMelanin biosynthesisMembraneMetal-bindingMonooxygenaseOxidoreductaseReference proteomeSignalTransmembraneTransmembrane helixTumor antigenWaardenburg syndromeCu cationCu cationCu cationCu cationCu cationCu cationGFASPLTGIADASQSSMHNALHIYMNGTMSQVEMGFLHVGWAGLKLLTSRDPPPWPPKMLGLQAHQPSCYDGSGSRGDGVSLRICYQHRQRRRRWSLWRPLCRCYGRGRFCKNPSTSFIVFMLHNSYITDNASPTATLMRGRQRSRWWLWSRWDVKTGRHYWCVFLSCGCREGEKRWRHRSRTLVPRVETAEQSPMTSGFLEGGEAEAPAVSRNHHYMTNTNYTKQKSPNKDNPAHDVFSNSREAEVWLRGRLRQRSHNHPRLPLQHEDASPHGRRQSFMKVGPLRINDFVDGGSDNADDRSPTGVMITMSQVQHVPGTLPDYHSGLPQYQSHVSEPFIKGLGNRVGPKSPDLTLTQSNVQVPENICWYFLMLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRRNPGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQSSMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEVYPEANAPIGHNRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLGAAMVGAVLTALLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLYQSHL
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