1. Gene
  2. TYRP1 - tyrosinase related protein 1 Gene

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

TYRP1 Protein Structure

Tyrosinase

Tyrosinase: Common central domain of tyrosinase (184 - 416)

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  • 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

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