Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P17643

- TYRP1_HUMAN

UniProt

P17643 - TYRP1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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

Cu2+By similarityNote: 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 heterodimerization activity Source: UniProtKB
  4. 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 477453Lumenal, melanosomeSequence AnalysisAdd
BLAST
Transmembranei478 – 50124HelicalSequence AnalysisAdd
BLAST
Topological domaini502 – 53736CytoplasmicSequence AnalysisAdd
BLAST

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
Complete GO annotation...

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

BgeeiP17643.
CleanExiHS_TYRP1.
ExpressionAtlasiP17643. baseline and differential.
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...

Family & Domainsi

Sequence similaritiesi

Belongs to the tyrosinase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG86242.
GeneTreeiENSGT00500000044790.
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

« Hide

        10         20         30         40         50
MSAPKLLSLG CIFFPLLLFQ QARAQFPRQC ATVEALRSGM CCPDLSPVSG
60 70 80 90 100
PGTDRCGSSS GRGRCEAVTA DSRPHSPQYP HDGRDDREVW PLRFFNRTCH
110 120 130 140 150
CNGNFSGHNC GTCRPGWRGA ACDQRVLIVR RNLLDLSKEE KNHFVRALDM
160 170 180 190 200
AKRTTHPLFV IATRRSEEIL GPDGNTPQFE NISIYNYFVW THYYSVKKTF
210 220 230 240 250
LGVGQESFGE VDFSHEGPAF LTWHRYHLLR LEKDMQEMLQ EPSFSLPYWN
260 270 280 290 300
FATGKNVCDI CTDDLMGSRS NFDSTLISPN SVFSQWRVVC DSLEDYDTLG
310 320 330 340 350
TLCNSTEDGP IRRNPAGNVA RPMVQRLPEP QDVAQCLEVG LFDTPPFYSN
360 370 380 390 400
STNSFRNTVE GYSDPTGKYD PAVRSLHNLA HLFLNGTGGQ THLSPNDPIF
410 420 430 440 450
VLLHTFTDAV FDEWLRRYNA DISTFPLENA PIGHNRQYNM VPFWPPVTNT
460 470 480 490 500
EMFVTAPDNL GYTYEIQWPS REFSVPEIIA IAVVGALLLV ALIFGTASYL
510 520 530
IRARRSMDEA NQPLLTDQYQ CYAEEYEKLQ NPNQSVV
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00500000044790.
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

Bgeei P17643.
CleanExi HS_TYRP1.
ExpressionAtlasi P17643. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 153 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