PMEL - premelanosome protein Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6490

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	References	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	References	Source
involved in melanosome organization	IDA IDA: Inferred from direct assay	11694580	GOA

Cellular Component GO Annotation	Evidence	References	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

PMEL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PMEL	P40967	GALNT11	Homo sapiens	Q8NCW6	Anti Tag CoIP	33961781
Intra	PMEL	P40967	CLCN7	Homo sapiens	P51798	Anti Tag CoIP	33961781
Intra	PMEL	P40967	DAGLB	Homo sapiens	Q8NCG7	Anti Tag CoIP	33961781
Intra	PMEL	P40967	PMEL	Homo sapiens	P40967	TEM	19666488
Intra	PMEL	P40967	DPH1	Homo sapiens	Q9BZG8	Anti Tag CoIP	33961781
Intra	PMEL	P40967	sepZ	Escherichia coli	O52302	Y2H	20374249
Intra	PMEL	P40967	DENND6A	Homo sapiens	Q8IWF6	Anti Tag CoIP	33961781
Intra	PMEL	P40967	ANTXR1	Homo sapiens	Q9H6X2	Anti Tag CoIP	33961781
Intra	PMEL	P40967	ATP2A3	Homo sapiens	Q93084	Anti Tag CoIP	33961781
Intra	PMEL	P40967	PMEL	Homo sapiens	P40967	NMR	19666488
Intra	PMEL	P40967	CMTM6	Homo sapiens	Q9NX76	Anti Tag CoIP	33961781
Intra	PMEL	P40967	AHCTF1	Homo sapiens	Q8WYP5	Anti Tag CoIP	33961781
Intra	PMEL	P40967	DNAJC30	Homo sapiens	Q96LL9	Anti Tag CoIP	33961781
Intra	PMEL	P40967	ATP1A3	Homo sapiens	P13637	Anti Tag CoIP	33961781
Intra	PMEL	P40967	CGRRF1	Homo sapiens	Q99675	Anti Tag CoIP	33961781
Intra	PMEL	P40967	PMEL	Homo sapiens	P40967	ED	19666488
Intra	PMEL	P40967	PMEL	Homo sapiens	P40967	Fluorescence Spectr	19666488

Cross: Cross-species interaction Intra: Intraspecies interaction

PMEL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83084	Melanoma gp100 Antibody (YA2829)	WB, IHC-P	Human
HY-P85933	Melanoma gp100 Antibody (YA5625)	IHC-P, WB, ICC/IF, ELISA	Human, Mouse

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-124857	7DG	Inhibitor	98%	Unkown
HY-RS10760	PMEL Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PMEL	NCBI