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P17643

- TYRP1_HUMAN

UniProt

P17643 - TYRP1_HUMAN

Protein

5,6-dihydroxyindole-2-carboxylic acid oxidase

Gene

TYRP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 151 (01 Oct 2014)
      Sequence version 2 (11 Jan 2001)
      Previous versions | rss
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    Functioni

    Oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. May regulate or influence the type of melanin synthesized.

    Cofactori

    Binds 2 copper ions per subunit.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi192 – 1921Copper ABy similarity
    Metal bindingi215 – 2151Copper ABy similarity
    Metal bindingi224 – 2241Copper ABy similarity
    Metal bindingi377 – 3771Copper BBy similarity
    Metal bindingi381 – 3811Copper BBy similarity
    Metal bindingi404 – 4041Copper BBy similarity

    GO - Molecular functioni

    1. copper ion binding Source: InterPro
    2. oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen Source: InterPro
    3. protein binding Source: UniProtKB
    4. protein heterodimerization activity Source: UniProtKB
    5. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. acetoacetic acid metabolic process Source: Ensembl
    2. melanin biosynthetic process Source: UniProtKB-UniPathway
    3. melanocyte differentiation Source: Ensembl
    4. melanosome organization Source: Ensembl

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Biological processi

    Melanin biosynthesis

    Keywords - Ligandi

    Copper, Metal-binding

    Enzyme and pathway databases

    UniPathwayiUPA00785.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    5,6-dihydroxyindole-2-carboxylic acid oxidase (EC:1.14.18.-)
    Short name:
    DHICA oxidase
    Alternative name(s):
    Catalase B
    Glycoprotein 75
    Melanoma antigen gp75
    Tyrosinase-related protein 1
    Short name:
    TRP
    Short name:
    TRP-1
    Short name:
    TRP1
    Gene namesi
    Name:TYRP1
    Synonyms:CAS2, TYRP, TYRRP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:12450. TYRP1.

    Subcellular locationi

    Melanosome membrane By similarity; Single-pass type I membrane protein By similarity
    Note: Located to mature stage III and IV melanosomes and apposed endosomal tubular membranes. Transported to pigmented melanosomes by the BLOC-1 complex By similarity.By similarity

    GO - Cellular componenti

    1. clathrin-coated endocytic vesicle membrane Source: UniProtKB
    2. endosome membrane Source: UniProtKB
    3. integral component of membrane Source: UniProtKB-KW
    4. melanosome Source: UniProtKB
    5. melanosome membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Albinism, oculocutaneous, 3 (OCA3) [MIM:203290]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti356 – 3561R → Q in OCA3. 1 Publication
    VAR_026828

    Keywords - Diseasei

    Albinism, Disease mutation

    Organism-specific databases

    MIMi203290. phenotype.
    612271. phenotype.
    Orphaneti79433. Oculocutaneous albinism type 3.
    PharmGKBiPA37101.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Add
    BLAST
    Chaini25 – 5375135,6-dihydroxyindole-2-carboxylic acid oxidasePRO_0000035889Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi96 – 961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi104 – 1041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi181 – 1811N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi304 – 3041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi350 – 3501N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi385 – 3851N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP17643.
    PRIDEiP17643.

    PTM databases

    PhosphoSiteiP17643.

    Expressioni

    Tissue specificityi

    Pigment cells.

    Gene expression databases

    ArrayExpressiP17643.
    BgeeiP17643.
    CleanExiHS_TYRP1.
    GenevestigatoriP17643.

    Organism-specific databases

    HPAiCAB002520.
    HPA000937.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    GIPC1O149083EBI-7900408,EBI-373132

    Protein-protein interaction databases

    BioGridi113156. 5 interactions.
    IntActiP17643. 1 interaction.
    MINTiMINT-1784675.
    STRINGi9606.ENSP00000373570.

    Structurei

    3D structure databases

    ProteinModelPortaliP17643.
    SMRiP17643. Positions 129-466.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini25 – 477453Lumenal, melanosomeSequence AnalysisAdd
    BLAST
    Topological domaini502 – 53736CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei478 – 50124HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the tyrosinase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG86242.
    HOGENOMiHOG000118376.
    HOVERGENiHBG003553.
    InParanoidiP17643.
    KOiK00506.
    OMAiVKKTFLG.
    PhylomeDBiP17643.
    TreeFamiTF315865.

    Family and domain databases

    Gene3Di1.10.1280.10. 1 hit.
    InterProiIPR015559. DiOHindole_carboxylic_A_Oxase.
    IPR002227. Tyrosinase_Cu-bd.
    IPR008922. Unchr_di-copper_centre.
    [Graphical view]
    PANTHERiPTHR11474:SF3. PTHR11474:SF3. 1 hit.
    PfamiPF00264. Tyrosinase. 1 hit.
    [Graphical view]
    PRINTSiPR00092. TYROSINASE.
    SUPFAMiSSF48056. SSF48056. 2 hits.
    PROSITEiPS00497. TYROSINASE_1. 1 hit.
    PS00498. TYROSINASE_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P17643-1 [UniParc]FASTAAdd to Basket

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    MSAPKLLSLG CIFFPLLLFQ QARAQFPRQC ATVEALRSGM CCPDLSPVSG    50
    PGTDRCGSSS GRGRCEAVTA DSRPHSPQYP HDGRDDREVW PLRFFNRTCH 100
    CNGNFSGHNC GTCRPGWRGA ACDQRVLIVR RNLLDLSKEE KNHFVRALDM 150
    AKRTTHPLFV IATRRSEEIL GPDGNTPQFE NISIYNYFVW THYYSVKKTF 200
    LGVGQESFGE VDFSHEGPAF LTWHRYHLLR LEKDMQEMLQ EPSFSLPYWN 250
    FATGKNVCDI CTDDLMGSRS NFDSTLISPN SVFSQWRVVC DSLEDYDTLG 300
    TLCNSTEDGP IRRNPAGNVA RPMVQRLPEP QDVAQCLEVG LFDTPPFYSN 350
    STNSFRNTVE GYSDPTGKYD PAVRSLHNLA HLFLNGTGGQ THLSPNDPIF 400
    VLLHTFTDAV FDEWLRRYNA DISTFPLENA PIGHNRQYNM VPFWPPVTNT 450
    EMFVTAPDNL GYTYEIQWPS REFSVPEIIA IAVVGALLLV ALIFGTASYL 500
    IRARRSMDEA NQPLLTDQYQ CYAEEYEKLQ NPNQSVV 537
    Length:537
    Mass (Da):60,724
    Last modified:January 11, 2001 - v2
    Checksum:i1051CEEF52908CCA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti395 – 3962PN → SQ in CAA35820. (PubMed:2324688)Curated
    Sequence conflicti526 – 53712YEKLQ…NQSVV → RI(PubMed:2111010)CuratedAdd
    BLAST
    Sequence conflicti526 – 53712YEKLQ…NQSVV → RI(PubMed:1906272)CuratedAdd
    BLAST

    Polymorphismi

    Genetic variants in TYRP1 define the skin/hair/eye pigmentation variation locus 11 (SHEP11) [MIMi:612271] and are responsible for variability in hair color linked to chromosome 9p23 in Melanesians. 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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931R → C Polymorphism associated with blond hair in individuals from the Solomon Islands; rare or absent outside of Oceania. 1 Publication
    VAR_068176
    Natural varianti326 – 3261R → H.
    Corresponds to variant rs16929374 [ dbSNP | Ensembl ].
    VAR_026827
    Natural varianti356 – 3561R → Q in OCA3. 1 Publication
    VAR_026828

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X51420 mRNA. Translation: CAA35785.1.
    AF001295 Genomic DNA. Translation: AAC15468.1.
    L38952 Genomic DNA. Translation: AAC41924.1.
    D83059 Genomic DNA. Translation: BAA11759.1.
    BC052608 mRNA. Translation: AAH52608.1.
    X51455 mRNA. Translation: CAA35820.1.
    X60955 Genomic DNA. Translation: CAA43288.1.
    CCDSiCCDS34990.1.
    PIRiS09999. YRHUB6.
    RefSeqiNP_000541.1. NM_000550.2.
    UniGeneiHs.270279.

    Genome annotation databases

    EnsembliENST00000388918; ENSP00000373570; ENSG00000107165.
    GeneIDi7306.
    KEGGihsa:7306.
    UCSCiuc003zkv.4. human.

    Polymorphism databases

    DMDMi12644141.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the TYRP1 gene

    Retina International's Scientific Newsletter

    Albinism database (ADB)

    TYRP1 mutations

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X51420 mRNA. Translation: CAA35785.1 .
    AF001295 Genomic DNA. Translation: AAC15468.1 .
    L38952 Genomic DNA. Translation: AAC41924.1 .
    D83059 Genomic DNA. Translation: BAA11759.1 .
    BC052608 mRNA. Translation: AAH52608.1 .
    X51455 mRNA. Translation: CAA35820.1 .
    X60955 Genomic DNA. Translation: CAA43288.1 .
    CCDSi CCDS34990.1.
    PIRi S09999. YRHUB6.
    RefSeqi NP_000541.1. NM_000550.2.
    UniGenei Hs.270279.

    3D structure databases

    ProteinModelPortali P17643.
    SMRi P17643. Positions 129-466.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113156. 5 interactions.
    IntActi P17643. 1 interaction.
    MINTi MINT-1784675.
    STRINGi 9606.ENSP00000373570.

    PTM databases

    PhosphoSitei P17643.

    Polymorphism databases

    DMDMi 12644141.

    Proteomic databases

    PaxDbi P17643.
    PRIDEi P17643.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000388918 ; ENSP00000373570 ; ENSG00000107165 .
    GeneIDi 7306.
    KEGGi hsa:7306.
    UCSCi uc003zkv.4. human.

    Organism-specific databases

    CTDi 7306.
    GeneCardsi GC09P012683.
    HGNCi HGNC:12450. TYRP1.
    HPAi CAB002520.
    HPA000937.
    MIMi 115501. gene.
    203290. phenotype.
    612271. phenotype.
    neXtProti NX_P17643.
    Orphaneti 79433. Oculocutaneous albinism type 3.
    PharmGKBi PA37101.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG86242.
    HOGENOMi HOG000118376.
    HOVERGENi HBG003553.
    InParanoidi P17643.
    KOi K00506.
    OMAi VKKTFLG.
    PhylomeDBi P17643.
    TreeFami TF315865.

    Enzyme and pathway databases

    UniPathwayi UPA00785 .

    Miscellaneous databases

    GeneWikii TYRP1.
    GenomeRNAii 7306.
    NextBioi 28568.
    PROi P17643.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P17643.
    Bgeei P17643.
    CleanExi HS_TYRP1.
    Genevestigatori P17643.

    Family and domain databases

    Gene3Di 1.10.1280.10. 1 hit.
    InterProi IPR015559. DiOHindole_carboxylic_A_Oxase.
    IPR002227. Tyrosinase_Cu-bd.
    IPR008922. Unchr_di-copper_centre.
    [Graphical view ]
    PANTHERi PTHR11474:SF3. PTHR11474:SF3. 1 hit.
    Pfami PF00264. Tyrosinase. 1 hit.
    [Graphical view ]
    PRINTSi PR00092. TYROSINASE.
    SUPFAMi SSF48056. SSF48056. 2 hits.
    PROSITEi PS00497. TYROSINASE_1. 1 hit.
    PS00498. TYROSINASE_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Nucleotide sequence of the cDNA encoding human tyrosinase-related protein."
      Cohen T., Muller R.M., Tomita Y., Shibahara S.
      Nucleic Acids Res. 18:2807-2807(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Melanoma.
    2. "Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter."
      Chintamaneni C.D., Ramsay M., Colman M.-A., Fox M.F., Pickard R.T., Kwon B.S.
      Biochem. Biophys. Res. Commun. 178:227-235(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1."
      Box N.F., Wyeth J.R., Mayne C.J., O'Gorman L.E., Martin N.G., Sturm R.A.
      Mamm. Genome 9:50-53(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "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].
      Tissue: Skin.
    5. "Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family."
      Sturm R.A., O'Sullivan B.J., Box N.F., Smith A.G., Smit S.E., Puttick E.R.J., Parsons P.G., Dunn I.S.
      Genomics 29:24-34(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-128.
      Tissue: Liver.
    6. "Downstream region of the human tyrosinase-related protein gene enhances its promoter activity."
      Shibata K., Takeda K., Tomita Y., Tagami H., Shibahara S.
      Biochem. Biophys. Res. Commun. 184:568-575(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-17.
    7. "The melanoma antigen gp75 is the human homologue of the mouse b (brown) locus gene product."
      Vijayasaradhi S., Bouchard B., Houghton A.N.
      J. Exp. Med. 171:1375-1380(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 218-465, PARTIAL PROTEIN SEQUENCE.
      Tissue: Melanoma.
    8. "Human tyrosinase-like protein (TYRL) carboxy terminus: closer homology with the mouse protein than previously reported."
      Urquhart A.J.
      Nucleic Acids Res. 19:5803-5803(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 481-537.
      Tissue: Blood and Hair root.
    9. "Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity."
      Halaban R., Moellmann G.
      Proc. Natl. Acad. Sci. U.S.A. 87:4809-4813(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: POSSIBLE FUNCTION.
    10. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.
    11. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.
    12. Cited for: INVOLVEMENT IN SHEP11, VARIANT CYS-93, ASSOCIATION OF VARIANT CYS-93 WITH BLOND HAIR.
    13. "Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient."
      Rooryck C., Roudaut C., Robine E., Muesebeck J., Arveiler B.
      Pigment Cell Res. 19:239-242(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OCA3 GLN-356.

    Entry informationi

    Entry nameiTYRP1_HUMAN
    AccessioniPrimary (citable) accession number: P17643
    Secondary accession number(s): P78468
    , P78469, Q13721, Q15679
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1990
    Last sequence update: January 11, 2001
    Last modified: October 1, 2014
    This is version 151 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3