TYRP1 tyrosinase related protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TYRP1provided by HGNC
Official Full Name: tyrosinase related protein 1provided by HGNC
Primary source: HGNC:HGNC:12450
See related: Ensembl:ENSG00000107165 MIM:115501; AllianceGenome:HGNC:12450
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRP; CAS2; CATB; GP75; OCA3; TRP1; TYRP; b-PROTEIN
Summary: 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]
Expression: Biased expression in skin (RPKM 66.6), heart (RPKM 17.1) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 9p23

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (12693385..12710285)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (12702721..12719618)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (12693385..12710285)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human TYRP1: Two functions for a single gene?
Title: Human TYRP1: Two functions for a single gene?
Association of TYRP1 with hypoxia and its correlation with patient outcome in uveal melanoma.
Title: Association of TYRP1 with hypoxia and its correlation with patient outcome in uveal melanoma.
Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies.
Title: Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies.
Tyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding.
Title: Tyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding.
Evaluation of the effect of narrow band-ultraviolet B on the expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo skin and their correlations with clinical improvement: A retrospective study.
Title: Evaluation of the effect of narrow band-ultraviolet B on the expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo skin and their correlations with clinical improvement: A retrospective study.
Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.
Title: Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.
Protein Stability and Functional Characterization of Intra-Melanosomal Domain of Human Recombinant Tyrosinase-Related Protein 1.
Title: Protein Stability and Functional Characterization of Intra-Melanosomal Domain of Human Recombinant Tyrosinase-Related Protein 1.
the recombinant human intra-melanosomal domains of tyrosinase, TYRtr (19-469), and tyrosinase-related protein 1, TYRP1tr (25-472), were studied in vitro to define their functional relationship.
Title: The TYRP1-mediated protection of human tyrosinase activity does not involve stable interactions of tyrosinase domains.
catalytic pathway starts with the tyrosinase HsTYR and two tyrosinase-related proteins HsTYRP1 and HsTYRP2. All three enzymes have the same active site but the latter two contain two zinc ions instead of copper ions
Title: The Recent Crystal Structure of Human Tyrosinase Related Protein 1 (HsTYRP1) Solves an Old Problem and Poses a New One.
The rs387907171 SNP in TYRP1 exhibits strong allele frequency differences among islands in Northern Island Melanesia. Its absence from Bougainville, as well as the weak association with decreased hair color, indicates that additional alleles contribute to the blondism phenotype.
Title: The rs387907171 SNP in TYRP1 is not associated with blond hair color on the Island of Bougainville.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oculocutaneous albinism type 3 MedGen: C0342683 OMIM: 203290 GeneReviews: Oculocutaneous Albinism and Ocular Albinism Overview	Compare labs
Skin/hair/eye pigmentation, variation in, 11 MedGen: C2677086 OMIM: 612271 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Melanesian blond hair is caused by an amino acid change in TYRP1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Two newly identified genetic determinants of pigmentation in Europeans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pol	gag-pol	HIV-1 Pol is identified to have a physical interaction with tyrosinase-related protein 1 (TYRP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69338 (e-PCR)
- UniSTS:40237

G44332 (e-PCR)
- UniSTS:95119

D9S1701 (e-PCR)
- UniSTS:6553

RH69255 (e-PCR)
- UniSTS:51360

GDB:181637 (e-PCR)
- UniSTS:155323

RH18096 (e-PCR)
- UniSTS:67822

RH48698 (e-PCR)
- UniSTS:4600

GDB:555709 (e-PCR)
- UniSTS:157694

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables tyrosinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acetoacetic acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in melanin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in melanin biosynthetic process	TAS Traceable Author Statement more info
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of melanin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in clathrin-coated endocytic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in melanosome	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome	ISS Inferred from Sequence or Structural Similarity more info
located_in melanosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in melanosome membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 5,6-dihydroxyindole-2-carboxylic acid oxidase

Names: DHICA oxidase; catalase B; glycoprotein 75; melanoma antigen gp75

NP_000541.1

EC 1.14.18.-

XP_047279797.1

EC 1.14.18.-

XP_054219718.1

EC 1.14.18.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.