TYRP1

Chr 9AR

tyrosinase related protein 1

ENSG00000107165UniProt: P17643OMIM: 115501

The protein is a melanosomal enzyme that catalyzes the oxidation of DHICA to indole-5,6-quinone-2-carboxylic acid in melanin biosynthesis and may regulate the type of melanin synthesized. Mutations cause oculocutaneous albinism type III and contribute to variation in skin, hair, and eye pigmentation including Melanesian blond hair. Inheritance is autosomal recessive.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 1.892 OMIM phenotypes
Clinical Summary— TYRP1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
4 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.89LOEUF
pLI 0.000
Z-score -2.04
OE 1.48 (1.11–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-2.15Z-score
OE missense 1.35 (1.24–1.47)
404 obs / 299.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.48 (1.11–1.89)
0≤0.351.4
Missense OE1.35 (1.24–1.47)
0≤0.61.4
Synonymous OE1.27
0≤1.21.6
LoF obs/exp: 31 / 20.9Missense obs/exp: 404 / 299.5Syn Z: -2.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TYRP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Ssc-mir-221-3p regulates melanin production in Xiang pigs melanocytes by targeting the TYRP1 gene
Yuan W et al.·BMC Genomics
2023
Regulatory gene network for coffee-like color morph of TYRP1 mutant of oujiang color common carp
Mandal RN et al.·BMC Genomics
2024
Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex
Lavinda O et al.·Front Pharmacol
2021
Identification of a metabolism-linked genomic signature for prognosis and immunotherapeutic efficiency in metastatic skin cutaneous melanoma
He Z et al.·Medicine (Baltimore)
2024
Comparison of tyrosinase antibody, tyrosinase-related protein-1 and -2 antibodies, melanin-concentrating hormone receptor antibody levels with autologous serum skin test and autologous plasma skin test results in patients with vitiligo
Unal A et al.·Postepy Dermatol Alergol
2021Cohort
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Tyrp1 mutation drives color variation via melanin reduction and collagen deposition in Chinese soft-shelled turtles (Pelodiscus sinensis).
Zhong J et al.·Int J Biol Macromol
2026
LNP-Delivered CAR-mRNA Enables in Vivo CAR-Macrophage Production for TYRP1-Targeted Therapy of Choroidal Melanoma.
Chen W et al.·Curr Eye Res
2026
Lactic acid inhibits melanin synthesis by regulating histone H3 lactylation and suppressing tyrp1 transcription in B16 melanoma cells.
Du B et al.·Sci Rep
2025Open Access
Tyrp1 is the mendelian determinant of the Axolotl (Ambystoma mexicanum) copper mutant.
Cecil RF et al.·Sci Rep
2024Open Access
PGC-based cryobanking, regeneration through germline chimera mating, and CRISPR/Cas9-mediated TYRP1 modification in indigenous Chinese chickens.
Kinoshita K et al.·Commun Biol
2024Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients