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Gene Model: Tyr

NomenclatureGenomic Location
SymbolTyrChromosome2
NameTyrosinaseLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 50 Mbp

Molecular Function

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.

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

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding
   protein binding
      protein dimerization activity
         protein heterodimerization activity

catalytic activity
   oxidoreductase activity
      monooxygenase activity
         monophenol monooxygenase activity

Human Disease Association

Defects in TYR are the cause of albinism oculocutaneous type 1A (OCA1A) [MIM:203100]; also known as tyrosinase negative oculocutaneous albinism. 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.

Defects in TYR are the cause of albinism oculocutaneous type 1B (OCA1B) [MIM:606952]; also known as albinism yellow mutant type. 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.

Predicted Transcript

   1 ATGTGTCTTTTCTCCATCGGCATCTTCTTCGGTCTTCTTCCTCTAGGATTGAGCCAGTTC
  61 CCACGGGCATGTGCCAATTCGGACAGTCTGCTAAAAAAGGAATGCTGCCCCCCTTGGCCA
 121 GGGGACGGGTCTCCTTGTGGAGAGCTTTCAGGCAGGGGGTCCTGTTCAGATATCCTTCTT
 181 TCAGATGCCCCACTTGGTCCTCAGTTTCCCTTCTCTGGAGTGGACGACAGGGAAGATTGG
 241 CCAGCTGTTTTTTATAACAGAACTTGCCAATGCACAGGCAACTTCATGGGGTTCAACTGC
 301 GGCGATTGCAAGTTCAACTTTGCAGGTCCCAACTGCACTCAAAGAAAGGCACAGGTGAGG
 361 AGAGATATCTTCCGGATCAGTGCCAGGGAAAAGTTCCAGTTTCTTGCCTACCTCAATTTG
 421 GCCAAGCACACAACTAGCCGGGATTTTGTCATTGCAACAGGAACGTATGCTCAAATGAAC
 481 AACGGCTCAACCCCTATGTTCCGAGACATCAACGTCTATGACCTGTTCGTTTGGATGCAT
 541 TATTACGTGTCCCGGGATACGCTCCTTGGAGGCACCAGCGTGTGGCGAGACATTGATTTT
 601 GCCCATGAGGCCCCAGGTTTCCTTCCTTGGCACCGGCTTTTTTTGCTCATGTGGGAACAT
 661 GAGATCCAGAAGTTGACTGGGAATGAGAACTTTACCATCCCCTATTGGGACTGGCGAGAT
 721 GCCCAGGGCTGTGACATCTGTACGGATGAAATCATGGGTGGCAGACATCCCAGCAACCCA
 781 AACATTCTGAGTCCAGCTTCTTTCTTCTCTTCATGGCAGGTAATTTGCAGCCGGTCAGAA
 841 GAGTACAACAGTCGTCAAGAACTTTGCAATGGCACAAATGAAGGGCCTATTCTTCGAAAC
 901 CCCGGCAACCATGATAAAGGGAGGACACCTCGGCTTCCATCTTCGGCAGATGTTGAATTC
 961 TGCTTAAGTTTGACACAGTACGAAGCGGGAACCATGGACAAAATGGCTAACTTCAGCTTC
1021 AGGAATACTTTGGAAGGCTTTGCTGATCCGAGTACTGCAATATCAAATGTATCTCAAAGC
1081 AGCCTGCACAACGCATTGCACATCTACATGAATGGCTCCATGTCTGAGGTACAAGGATCA
1141 GCCAATGATCCCATCTTCATCCTTCACCATGCCTTTGTTGACAGCATTTTTGAACAATGG
1201 CTTAGAAGACATCGACCTCTACGTGAGGTTTATCCTGCAGCCAATGCCCCAATTGGACAC
1261 AACCGTGAATCCTACATGGTCCCCTTCATTCCACTTTACAGGAATGGGGAATTCTTCATA
1321 TCATCAATAGAACTGGGATATGACTATGAATATCTAACAAATCCAGCCAACCCCTTCCAG
1381 AATTTTTTCCTGCCTTATTTGGAACAGGCACGTCAAATCTGGCCATGGCTGGTGGGAGCT
1441 GCCGTGGTGGGTGCCATTATAATGTTGATTGTTGGCATCATTGTTCTACGATGTCGGAAG
1501 AAGAGACGGATCTCAGAAGAGACACAACCATTACTCATGGAGAGTGAGGATTATCAGCAC
1561 ATGACATACCAGTCACATGTATAA

Predicted Protein Product
MCLFSIGIFFGLLPLGLSQFPRACANSDSLLKKECCPPWPGDGSPCGELSGRGSCSDILL
SDAPLGPQFPFSGVDDREDWPAVFYNRTCQCTGNFMGFNCGDCKFNFAGPNCTQRKAQVR
RDIFRISAREKFQFLAYLNLAKHTTSRDFVIATGTYAQMNNGSTPMFRDINVYDLFVWMH
YYVSRDTLLGGTSVWRDIDFAHEAPGFLPWHRLFLLMWEHEIQKLTGNENFTIPYWDWRD
AQGCDICTDEIMGGRHPSNPNILSPASFFSSWQVICSRSEEYNSRQELCNGTNEGPILRN
PGNHDKGRTPRLPSSADVEFCLSLTQYEAGTMDKMANFSFRNTLEGFADPSTAISNVSQS
SLHNALHIYMNGSMSEVQGSANDPIFILHHAFVDSIFEQWLRRHRPLREVYPAANAPIGH
NRESYMVPFIPLYRNGEFFISSIELGYDYEYLTNPANPFQNFFLPYLEQARQIWPWLVGA
AVVGAIIMLIVGIIVLRCRKKRRISEETQPLLMESEDYQHMTYQSHV-
Protein Alignment to Mouse
>sp|P11344|TYRO_MOUSE Tyrosinase OS=Mus musculus GN=Tyr PE=1 SV=3
      MGI:98880 Tyr tyrosinase (Chr 7)
        Length = 533

 Score = 2189 (775.6 bits), Expect = 1.6e-227, P = 1.6e-227
 Identities = 384/515 (74%), Positives = 446/515 (86%)

Query:    20 FPRACANSDSLLKKECCPPWPGDGSPCGELSGRGSCSDILLSDAPLGPQFPFSGVDDRED 79
             FPRACA+S +LL KECCPPW GDGSPCG+LSGRGSC DILLS AP GPQFPF GVDDRE 
Sbjct:    20 FPRACASSKNLLAKECCPPWMGDGSPCGQLSGRGSCQDILLSSAPSGPQFPFKGVDDRES 79

Query:    80 WPAVFYNRTCQCTGNFMGFNCGDCKFNFAGPNCTQRKAQVRRDIFRISAREKFQFLAYLN 139
             WP+VFYNRTCQC+GNFMGFNCG+CKF F GPNCT+++  +RR+IF +S  EK +F +YL 
Sbjct:    80 WPSVFYNRTCQCSGNFMGFNCGNCKFGFGGPNCTEKRVLIRRNIFDLSVSEKNKFFSYLT 139

Query:   140 LAKHTTSRDFVIATGTYAQMNNGSTPMFRDINVYDLFVWMHYYVSRDTLLGGTSVWRDID 199
             LAKHT S  +VI TGTY QMNNGSTPMF DIN+YDLFVWMHYYVSRDTLLGG+ +WRDID
Sbjct:   140 LAKHTISSVYVIPTGTYGQMNNGSTPMFNDINIYDLFVWMHYYVSRDTLLGGSEIWRDID 199

Query:   200 FAHEAPGFLPWHRLFLLMWEHEIQKLTGNENFTIPYWDWRDAQGCDICTDEIMGGRHPSN 259
             FAHEAPGFLPWHRLFLL+WE EI++LTG+ENFT+PYWDWRDA+ CDICTDE +GGRHP N
Sbjct:   200 FAHEAPGFLPWHRLFLLLWEQEIRELTGDENFTVPYWDWRDAENCDICTDEYLGGRHPEN 259

Query:   260 PNILSPASFFSSWQVICSRSEEYNSRQELCNGTNEGPILRNPGNHDKGRTPRLPSSADVE 319
             PN+LSPASFFSSWQ+ICSRSEEYNS Q LC+GT EGP+LRNPGNHDK +TPRLPSSADVE
Sbjct:   260 PNLLSPASFFSSWQIICSRSEEYNSHQVLCDGTPEGPLLRNPGNHDKAKTPRLPSSADVE 319

Query:   320 FCLSLTQYEAGTMDKMANFSFRNTLEGFADPSTAISNVSQSSLHNALHIYMNGSMSEVQG 379
             FCLSLTQYE+G+MD+ ANFSFRNTLEGFA P T I++ SQSS+HNALHI+MNG+MS+VQG
Sbjct:   320 FCLSLTQYESGSMDRTANFSFRNTLEGFASPLTGIADPSQSSMHNALHIFMNGTMSQVQG 379

Query:   380 SANDPIFILHHAFVDSIFEQWLRRHRPLREVYPAANAPIGHNRESYMVPFIPLYRNGEFF 439
             SANDPIF+LHHAFVDSIFEQWLRRHRPL EVYP ANAPIGHNR+SYMVPFIPLYRNG+FF
Sbjct:   380 SANDPIFLLHHAFVDSIFEQWLRRHRPLLEVYPEANAPIGHNRDSYMVPFIPLYRNGDFF 439

Query:   440 ISSIELGYDYEYLTNPANP--FQNFFLPYLEQARQIWPWLVGAAVVGAIIMLIV-GIIVL 496
             I+S +LGYDY YL   ++P  ++N+  PYLEQA +IWPWL+GAA+VGA+I   + G+   
Sbjct:   440 ITSKDLGYDYSYLQE-SDPGFYRNYIEPYLEQASRIWPWLLGAALVGAVIAAALSGLSSR 498

Query:   497 RC----RKKRRISEETQPLLMESEDYQHMTYQSHV 527
              C    +KK++  EE QPLLM+ +DY  + YQSH+
Sbjct:   499 LCLQKKKKKKQPQEERQPLLMDKDDYHSLLYQSHL 533