PMEL - premelanosome protein Gene

Homo sapiens

Also known as P1; SI; SIL; ME20; P100; SILV; HMB45; ME20M; gp100; HMB-45; ME20-M; PMEL17; D12S53E

Gene ID: 6490 | Gene type: protein coding

About PMEL

Cytogenetic location: 12q13.2 Genomic coordinates (GRCh38): 12:55,954,105-55,966,709 (from NCBI)

This gene has 19 transcripts (splice variants), 261 orthologues and 2 paralogues. Biased expression in skin (RPKM 37.5), testis (RPKM 2.4) and 1 other tissue.

Summary

This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

PMEL Products(6)

mRNA	Protein	Name
NM_001200053.1	NP_001186982.1	melanocyte protein PMEL isoform 2 precursor
NM_001200054.1	NP_001186983.1	melanocyte protein PMEL isoform 1 preproprotein
NM_001320121.1	NP_001307050.1	melanocyte protein PMEL isoform 4 preproprotein
NM_001320122.1	NP_001307051.1	melanocyte protein PMEL isoform 5 preproprotein
NM_001384361.1	NP_001371290.1	melanocyte protein PMEL isoform 3 preproprotein
NM_006928.5	NP_008859.1	melanocyte protein PMEL isoform 3 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	19666488	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15695812	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in melanosome organization	IDA IDA: Inferred from direct assay	11694580	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15695812	GOA
located in cis-Golgi network membrane	IDA IDA: Inferred from direct assay	15096515	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15096515	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	26387950	GOA
located in melanosome	IDA IDA: Inferred from direct assay	15695812	GOA
located in melanosome membrane	IDA IDA: Inferred from direct assay	15096515	GOA
located in multivesicular body membrane	IDA IDA: Inferred from direct assay	11694580	GOA
located in multivesicular body, internal vesicle	IDA IDA: Inferred from direct assay	26387950	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

PMEL Protein Structure

PKD

0
200
400
600
661 a.a.

Protein Preferred Names

Protein Names

melanocyte protein PMEL

melanocyte protein Pmel 17

Related Diseases

Diseases

Alias

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

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Melanoma In Congenital Melanocytic Nevus

Malignant Melanoma In Congenital Melanocytic Nevus	Melanocytic Nevi
Nevi Melanocytic

Juvenile Xanthogranuloma

Multiple Eruptive Juvenile Xanthogranuloma	Naevoxanthoendothelioma
Xanthoma Neviforme	Xanthogranuloma, Juvenile

Gallbladder Melanoma

Malignant Melanoma Of Gallbladder

Vaccinia

Lymphangioleiomyomatosis

Lymphangiomyomatosis	LAM
Lung Lymphangioleiomyomatosis	Pulmonary Lymphangioleiomyomatosis
Lymphangioleiomyomatosis, Somatic	Lymphangio-Myomatosis

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

Oculocutaneous Albinism

Albinism, Oculocutaneous	Oca
Albinism Oculocutaneous	Oca - [Oculocutaneous Albinism]

Uveitis

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Melanoma, Uveal

Uveal Melanoma	Choroidal Melanoma
Melanoma Of Uvea	Iris Melanoma
Malignant Melanoma Of Choroid	Malignant Melanoma Of Iris

Malignant Spindle Cell Melanoma

Spindle Cell Melanoma	Desmoplastic Melanoma
Spindle Cell Malignant Melanoma	Spitzoid Malignant Melanoma

Amyloidosis, Primary Localized Cutaneous, 3

Amyloidosis Cutis Dyschromica	PLCA3
Acd	Primary Localized Cutaneous Amyloidosis 3
Amyloidosis Cutis Dyschromia

Sarcoid Meningitis

Meningitis In Sarcoidosis

Vulvar Proximal-Type Epithelioid Sarcoma

Central Epithelioid Sarcoma

Proximal-Type Epithelioid Sarcoma

Diffuse Meningeal Melanocytosis

Diffuse Melanocytosis

Diffuse Melanosis

Mucosal Melanoma

Acral Lentiginous Melanoma

Acral Lentiginous Melanoma, Malignant	Malignant Acral Lentiginous Melanoma
Alm	Acral Lentiginous Malignant Melanoma Of Skin
Palmar/Plantar Melanoma	Subungual Melanoma
Acral Lentiginous Malignant Melanoma

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

Ocular Melanoma

Intraocular Melanoma	Uveal Melanoma
Eye Melanoma	Melanoma Of Eye
Melanoma Of The Uvea	Malignant Melanoma Of Eye

Cervix Melanoma

Waardenburg Syndrome, Type 2e

Waardenburg Syndrome Type 2	Waardenburg Syndrome Type 2e
WS2E	Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement
Waardenburg Syndrome, Type Iie	Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation
Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement	Waardenburg Syndrome Type Iie
Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation	Ws2e, With Or Without Neurologic Involvement
Ws2e With Or Without Neurological Involvement	Ws 2
Ws Type 2	Ws2
Waardenburg Syndrome Type Ii	Waardenburg Syndrome 2e
Kallmann Syndrome And Deafness With Or Without Hypopigmentation	Ws2e With Or Without Neurologic Involvement
Waardenburg Syndrome Type 2e, Without Neurologic Involvement	Ws-2

Nodular Malignant Melanoma

Nodular Melanoma

Uveal Disease

Uveal Diseases

Testicular Cancer

Testis Cancer	Testicular Carcinoma
Testicular Neoplasms	Malignant Neoplasm Of Testis
Childhood Neoplasm Of The Testis	Neoplasm Of Testis
Pediatric Testicular Neoplasm	Testicular Tumor
Testis Neoplasm	Testicular Tumors
Testicular Neoplasm	Testicular Malignant Germ Cell Tumor
Childhood Testicular Neoplasm	Carcinoma Of The Testis
Cancer Of Testis	Malignant Neoplasm Of Testis, Nos
Malignant Neoplasm Of Testis, Unspecified	Malignant Tumour Of Testis
Testicle Cancer	Primary Malignant Neoplasm Of Testis

High Grade Glioma

Malignant Glioma	Glial Cell Tumor
Glioma, Malignant	Malignant Neuroglial Tumor
Neuroglial Tumor	Glioma
Malignant Gliomas

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

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10760	PMEL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PMEL	VGNC	VGNC:44730
Mus musculus	PMEL	MGD	MGI:98301
Bos taurus	PMEL	VGNC	VGNC:33069
Rattus norvegicus	PMEL	RGD	RGD:1307513
Macaca mulatta	PMEL	VGNC	VGNC:76018
Felis catus	PMEL	VGNC	VGNC:64254