TYRP1 - tyrosinase related protein 1 Gene

Also Known as TRP; CAS2; CATB; GP75; OCA3; TRP1; TYRP; b-PROTEIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7306

About TYRP1

Cytogenetic location: 9p23 Genomic coordinates (GRCh38): 9:12,693,385-12,710,285 (from NCBI)

This gene has 7 transcripts (splice variants), 273 orthologues, 2 paralogues and is associated with 5 phenotypes. Biased expression in skin (RPKM 66.6), heart (RPKM 17.1) and 1 other tissue.

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]

TYRP1 Products (1)

mRNA	Protein	Name
NM_000550.3	NP_000541.1	5,6-dihydroxyindole-2-carboxylic acid oxidase precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11441007	GOA
enables tyrosinase activity	IDA IDA: Inferred from direct assay	21291857	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of melanin biosynthetic process	IMP IMP: Inferred from mutant phenotype	21996312	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in clathrin-coated endocytic vesicle membrane	IDA IDA: Inferred from direct assay	19841138	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	21291857	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	19841138	GOA
located in intracellular vesicle	IDA IDA: Inferred from direct assay	21291857	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TYRP1 Protein Structure

Tyrosinase

0
100
200
300
400
500
537 a.a.

Protein Preferred Names	Protein Names
5,6-dihydroxyindole-2-carboxylic acid oxidase	DHICA oxidase

TYRP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TYRP1	P17643	GIPC1	Homo sapiens	O14908	Anti Bait CoIP	11441007
Intra	TYRP1	P17643	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TYRP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P73568	TRP1 Protein, Human (HEK293, His)	P17643 (Q25-R471)	≥ 95%, as determined by reducing SDS-PAGE.

TYRP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81502	TRP1 Antibody (YA1247)	IHC-P	Human
HY-P81502A	TRP1 Antibody (YA1247)(PBS only)	IHC-P	Human
HY-P82582	TRP1 Antibody (YA2327)	WB, IHC-P, IP	Human

Related Diseases

Diseases	Alias
Albinism, Oculocutaneous, Type Iii	Rufous Oculocutaneous Albinism Oculocutaneous Albinism Type 3 OCA3 Roca Xanthism Oculocutaneous Albinism Type Iii Albinism Iii Oculocutaneous Albinism, Type Iii Albinism 3 Albinism, Oculocutaneous, Type 3 Rufous Oca Red Oculocutaneous Albinism Xanthous Oculocutaneous Albinism Albinism, Oculocutaneous, 3 Oca-Iii
Skin/Hair/Eye Pigmentation, Variation In, 11	SHEP11 Melanesian Blond Hair Skin/Hair/Eye Pigmentation 11, Blue/Nonblue Eyes
Albinism
Oculocutaneous Albinism	Albinism, Oculocutaneous Oca Albinism Oculocutaneous Oca - [Oculocutaneous Albinism]
Albinism, Oculocutaneous, Type Ii	OCA2 Oculocutaneous Albinism Type 2 Oculocutaneous Albinism Type Ii Albinoidism Tyrosinase-Positive Oculocutaneous Albinism Brown Oculocutaneous Albinism Oculocutaneous Albinism, Tyrosinase-Positive Albinism Ii Albinism, Brown Oculocutaneous Oculocutaneous Albinism, Type Ii, Modifier Of Oculocutaneous Albinism, Type Ii Albinism, Oculocutaneous, Type Ii, Modifier Of Albinism 2 Albinism, Oculocutaneous, Type 2 Oculocutaneous Albinism Tyrosinase Positive Oculocutaneous Albinism, Tyrosinase Positive Albinism, Oculocutaneous, 2 Boca Oca-2 Oculocutaneous Albinism Tyrosinase-Positive
Ocular Albinism	Albinism, Ocular Oa Xloa Albinism Ocular
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo VAMAS1 Slev1 Vtlg Systemic Lupus Erythematosus, Vitiligo-Related Vitiligo-Associated Multiple Autoimmune Disease 1 Systemic Lupus Erythematosus Vitiligo-Related
Amelanotic Melanoma	Melanoma, Amelanotic Melanoma Amelanotic Amelanotic Skin Melanoma
Chediak-Higashi Syndrome	CHS Chédiak-Higashi Syndrome Chediak - Steinbrinck Anomaly Chediak Higashi Syndrome Chediak-Steinbrinck-Higashi Syndrome Oculocutaneous Albinism With Leukocyte Defect Chediak-Higashi Disease Chediak-Higashi-Steinbrink Syndrome
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Dowling-Degos Disease 1	Reticular Pigment Anomaly Of Flexures DDD1 Ddd Hyperpigmentation Dowling-Degos Disease
Ocular Pigment Dispersion With Or Without Glaucoma	Pigment Dispersion Syndrome Glaucoma-Related Pigment Dispersion Syndrome OPDG Pds Glaucoma, Pigment-Dispersion Type Gpds1 Pigment-Dispersion Type Glaucoma Pigment-Dispersion Syndrome Glaucoma, Open-Angle
Albinism, Oculocutaneous, Type Iv	OCA4 Oculocutaneous Albinism Type 4 Oculocutaneous Albinism, Type Iv Oculocutaneous Albinism Type Iv Albinism, Oculocutaneous, 4
Clear Cell Sarcoma	Sarcoma, Clear Cell Adult Soft Part Clear Cell Sarcoma Clear Cell Sarcoma Of Soft Parts Malignant Melanoma Of Soft Parts Malignant Melanoma Of Soft Tissues Melanoma, Malignant, Of Soft Parts Sarcoma Clear Cell
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Albinism, Oculocutaneous, Type Ib	OCA1B Oculocutaneous Albinism Type 1b Albinism, Yellow Mutant Type Yellow Albinism Oculocutaneous Albinism Type Ib Temperature-Sensitive Oculocutaneous Albinism Type 1 Oculocutaneous Albinism, Type Ib Yellow Mutant Albinism Oca1-Ts Ts Oca Type 1 Oculocutaneous Albinism, Amish Type Platinum Oculocutaneous Albinism Yellow Oculocutaneous Albinism Albinism, Oculocutaneous, 1b Albinism Yellow Mutant Type Oca-Ib Oca-Its Oculocutaneous Albinism Type I Temperature-Sensitive Albinism, Oculocutaneous, Type I, Temperature-Sensitive Minimal Pigment Oculocutaneous Albinism
Acute Contagious Conjunctivitis	Pink Eye Contagious Opthalmia Pinkeye Conjunctivitis Keratoconjunctivitis Due To Mycoplasma Conjunctivae
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Acute Conjunctivitis
Ochronosis
Albinism, Oculocutaneous, Type Ia	Oculocutaneous Albinism Type 1 OCA1A Oca1 Oculocutaneous Albinism, Tyrosinase-Negative Atn Tyrosinase-Negative Oculocutaneous Albinism Albinism I Oculocutaneous Albinism Type Ia Oculocutaneous Albinism Type 1a Oculocutaneous Albinism, Type I Albinism 1 Oculocutaneous Albinism, Tyrosinase Negative Albinism, Oculocutaneous, 1a Albinism Oculocutaneous Ia Oca-1a Oca-Ia Oculocutaneous Albinism Tyrosinase Negative Albinism, Oculocutaneous, Type I
Tietz Albinism-Deafness Syndrome	Tietz Syndrome Albinism-Deafness Of Tietz Hypopigmentation/Deafness Of Tietz Tietze'S Syndrome TADS Costochondral Junction Syndrome Costochondritis Tietze Syndrome Hypopigmentation-Deafness Syndrome Costalchondritis Slipping Rib Syndrome Tietze'S Disease Chondropathia Tuberosa Albinism And Complete Nerve Deafness Tietz'S Syndrome Hypopigmentation-Hearing Loss Syndrome Costal Chondritis Abnormality Of The Costochondral Junction
Waardenburg Syndrome, Type 2a	Waardenburg Syndrome Type 2a WS2A Waardenburg Syndrome, Type Iia Waardenburg Syndrome Without Dystopia Canthorum Ws2 Waardenburg Syndrome Type Iia Waardenburg Syndrome 2a
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Open-Angle Glaucoma	Glaucoma Simplex Pigmentary Glaucoma Wide-Angle Glaucoma Glaucoma, Open-Angle Open Angle Glaucoma Glaucoma Open-Angle Chronic Simple Glaucoma Coag - [Chronic Open-Angle Glaucoma] Csg - [Chronic Simple Glaucoma] Poag - [Primary Open-Angle Glaucoma] Oag - [Open-Angle Glaucoma] Chronic Glaucoma Chronic Open Angle Glaucoma Simple Glaucoma Chronic Noncongestive Glaucoma Ltg - [Low Tension Glaucoma] Noncongestive Glaucoma Nonobstructive Glaucoma Normal Pressure Glaucoma Primary Low Tension Glaucoma Low-Tension Glaucoma Residual Stage Low Tension Glaucoma Open Cleft Glaucoma
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Iris Disease	Iris Diseases
Gallbladder Melanoma	Malignant Melanoma Of Gallbladder
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99622	Flanvotumab	Inhibitor	≥99.0%	Phase 1

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N6069	Raspberry ketone glucoside	Activator	99.52%	Unkown
HY-RS15310	TYRP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-161612	Mycosporine 2 glycine	Inhibitor	/	Unkown
HY-RS18847	Tyrp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25339	Tyrp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990149	Anti-Mouse/Human TYRP1 Antibody (TA99)	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TYRP1	MGD	MGI:98881
Bos taurus	TYRP1	VGNC	VGNC:36553
Felis catus	TYRP1	VGNC	VGNC:82317
Rattus norvegicus	TYRP1	RGD	RGD:1593266
Canis familiaris	TYRP1	VGNC	VGNC:48029
Macaca mulatta	TYRP1	VGNC	VGNC:78684
Others	TYRP1	NCBI