PMEL - premelanosome protein Gene

中文名称：前黑素体蛋白

种属: Homo sapiens

同用名: P1; SI; SIL; ME20; P100; SILV; HMB45; ME20M; gp100; HMB-45; ME20-M; PMEL17; D12S53E

基因 ID: 6490 | 基因类型: protein coding

关于 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.

功能概要

该基因编码黑素细胞特异性 I 型跨膜糖蛋白。编码的蛋白质富含黑素体，黑素体是黑素细胞中产生黑色素的细胞器，在前黑素体的结构组织中起着重要作用。这种蛋白质参与生成内部基质纤维，这些纤维定义了从 I 阶段到 II 阶段黑素体的转变。这种蛋白质经历了一种复杂的前列腺翻译加工和修饰模式，这对于蛋白质的正常功能至关重要。通过蛋白水解胞外域脱落释放的这种蛋白质的分泌形式可用作黑色素瘤特异性血清标志物。交替剪接导致多个转录本变体。[RefSeq 提供，2011 年 1 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	19666488	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15695812	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in melanosome organization	IDA IDA: 通过直接分析推断	11694580	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	15695812	GOA
located in cis-Golgi network membrane	IDA IDA: 通过直接分析推断	15096515	GOA
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	15096515	GOA
located in extracellular exosome	IDA IDA: 通过直接分析推断	26387950	GOA
located in melanosome	IDA IDA: 通过直接分析推断	15695812	GOA
located in melanosome membrane	IDA IDA: 通过直接分析推断	15096515	GOA
located in multivesicular body membrane	IDA IDA: 通过直接分析推断	11694580	GOA
located in multivesicular body, internal vesicle	IDA IDA: 通过直接分析推断	26387950	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PMEL 蛋白结构

PKD

0
200
400
600
661 a.a.

蛋白主名

其他名称

melanocyte protein PMEL

melanocyte protein Pmel 17

PMEL 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	PMEL	P40967	GALNT11	Homo sapiens	Q8NCW6	Anti Tag CoIP	33961781
种属内	PMEL	P40967	CLCN7	Homo sapiens	P51798	Anti Tag CoIP	33961781
种属内	PMEL	P40967	DAGLB	Homo sapiens	Q8NCG7	Anti Tag CoIP	33961781
种属内	PMEL	P40967	PMEL	Homo sapiens	P40967	TEM	19666488
种属内	PMEL	P40967	DPH1	Homo sapiens	Q9BZG8	Anti Tag CoIP	33961781
种属内	PMEL	P40967	sepZ	Escherichia coli	O52302	Y2H	20374249
种属内	PMEL	P40967	DENND6A	Homo sapiens	Q8IWF6	Anti Tag CoIP	33961781
种属内	PMEL	P40967	ANTXR1	Homo sapiens	Q9H6X2	Anti Tag CoIP	33961781
种属内	PMEL	P40967	ATP2A3	Homo sapiens	Q93084	Anti Tag CoIP	33961781
种属内	PMEL	P40967	PMEL	Homo sapiens	P40967	NMR	19666488
种属内	PMEL	P40967	CMTM6	Homo sapiens	Q9NX76	Anti Tag CoIP	33961781
种属内	PMEL	P40967	AHCTF1	Homo sapiens	Q8WYP5	Anti Tag CoIP	33961781
种属内	PMEL	P40967	DNAJC30	Homo sapiens	Q96LL9	Anti Tag CoIP	33961781
种属内	PMEL	P40967	ATP1A3	Homo sapiens	P13637	Anti Tag CoIP	33961781
种属内	PMEL	P40967	CGRRF1	Homo sapiens	Q99675	Anti Tag CoIP	33961781
种属内	PMEL	P40967	PMEL	Homo sapiens	P40967	ED	19666488
种属内	PMEL	P40967	PMEL	Homo sapiens	P40967	Fluorescence Spectr	19666488

种属间: 跨种属相互作用 种属内: 同种属相互作用

PMEL 抗体

目录号	产品名	应用	反应物种
HY-P83084	Melanocyte Protein PMEL Antibody (YA2829)	WB, IHC-P	Human
HY-P85933	HMB45 Antibody (YA5625)	IHC-P, WB, ICC/IF, ELISA	Human, Mouse,

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10760	PMEL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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