TYRP1

Protein identityUniProt · HPA

UniProt accession

P17643

Gene

TYRP1

Ensembl

ENSG00000107165

Chromosome

9

Canonical length

537 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Vesicles

OverviewNCBI Gene

This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

537 residues, UniProt reviewed canonical sequence.

>P17643|TYRP1
     1  MSAPKLLSLG CIFFPLLLFQ QARAQFPRQC ATVEALRSGM CCPDLSPVSG PGTDRCGSSS
    61  GRGRCEAVTA DSRPHSPQYP HDGRDDREVW PLRFFNRTCH CNGNFSGHNC GTCRPGWRGA
   121  ACDQRVLIVR RNLLDLSKEE KNHFVRALDM AKRTTHPLFV IATRRSEEIL GPDGNTPQFE
   181  NISIYNYFVW THYYSVKKTF LGVGQESFGE VDFSHEGPAF LTWHRYHLLR LEKDMQEMLQ
   241  EPSFSLPYWN FATGKNVCDI CTDDLMGSRS NFDSTLISPN SVFSQWRVVC DSLEDYDTLG
   301  TLCNSTEDGP IRRNPAGNVA RPMVQRLPEP QDVAQCLEVG LFDTPPFYSN STNSFRNTVE
   361  GYSDPTGKYD PAVRSLHNLA HLFLNGTGGQ THLSPNDPIF VLLHTFTDAV FDEWLRRYNA
   421  DISTFPLENA PIGHNRQYNM VPFWPPVTNT EMFVTAPDNL GYTYEIQWPS REFSVPEIIA
   481  IAVVGALLLV ALIFGTASYL IRARRSMDEA NQPLLTDQYQ CYAEEYEKLQ NPNQSVV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TYRP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

137 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TYRP1.

Disease | AllUniProt

Conditions TYRP1 is implicated in, by any mechanism.

• Albinism, oculocutaneous, 3 (OCA3) MIM:203290

Disease | GeneticClinVar

92 pathogenic / likely-pathogenic of 704 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Oculocutaneous albinism type 3
• MELANESIAN BLOND HAIR
• TYRP1-related disorder
• Albinism
• Pigmentary skin disorders

Disease | ImmuneIEDB

Conditions an epitope on TYRP1 was assayed in.

• Vogt-Koyanagi-Harada disease T cell
• skin melanoma T cell

Disease | AutoantibodyPubMed

Conditions in which antibodies against TYRP1 are reported. Each links to that disease's full target list.

• Vitiligo 5

ReferencesPubMed · IEDB

Publications for TYRP1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.89

gnomAD pLI

0

gnomAD missense Z

-2.15

DepMap mean gene effect

0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• melanin biosynthetic process
• melanocyte differentiation
• melanosome organization
• positive regulation of melanin biosynthetic process
• acetoacetic acid metabolic process

Molecular functions

• metal ion binding
• protein homodimerization activity
• tyrosinase activity
• catechol oxidase activity

Cellular components

• clathrin-coated endocytic vesicle membrane
• cytoplasm
• endosome membrane
• intracellular vesicle
• melanosome
• melanosome membrane

Protein domainsUniProt · Pfam · InterPro

• Tyrosinase copper-binding domain
• Di-copper centre-containing domain superfamily
• Tyrosinase and Hemocyanin
• Common central domain of tyrosinase

KeywordsUniProt

• Albinism
• Copper
• Disulfide bond
• Glycoprotein
• Melanin biosynthesis
• Membrane
• Metal-binding
• Monooxygenase
• Oxidoreductase
• Signal
• Transmembrane
• Transmembrane helix
• Zinc

InteractionsUniProt · HPA

Protein binding partners of TYRP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP7A
• SLC45A2
• GIPC1