TYRP1 - tyrosinase related protein 1 Gene

Homo sapiens

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

Gene ID: 7306 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in positive regulation of melanin biosynthetic process	IMP IMP: Inferred from mutant phenotype	21996312	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Recombinant TYRP1 Proteins

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

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

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99622	Flanvotumab	Inhibitor	97.83%	Phase 1

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161612	Mycosporine 2 glycine	Inhibitor	/	Unkown
HY-RS15310	TYRP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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