1. Gene
  2. GPNMB - glycoprotein nmb Gene

GPNMB - glycoprotein nmb Gene

中文名称:糖蛋白 nmb

种属: Homo sapiens

同用名: NMB; HGFIN; PLCA3

基因 ID: 10457 | 基因类型: protein coding

关于 GPNMB

Cytogenetic location: 7p15.3 Genomic coordinates (GRCh38): 7:23,246,775-23,275,108 (from NCBI)

This gene has 15 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in skin (RPKM 225.4), gall bladder (RPKM 143.5) and 17 other tissues.

功能概要

由该基因编码的蛋白质是一种 I 型跨膜糖蛋白,它与黑素细胞特异性蛋白质 pMEL17 前体具有同源性。 GPNMB 在低转移性人黑色素瘤细胞系和异种移植物中表达,但在高转移性细胞系中不表达。 GPNMB 可能参与生长延迟和转移潜能的降低。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GPNMB 基因产物(2)

mRNA Protein Name
NM_001005340.2 NP_001005340.1 transmembrane glycoprotein NMB isoform a precursor
NM_002510.3 NP_002501.1 transmembrane glycoprotein NMB isoform b precursor
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 heparin binding IDA
IDA: 通过直接分析推断
19350579 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12609765 GOA
enables receptor ligand activity IMP
IMP: 通过突变表型推断
19350579 GOA
enables syndecan binding IPI
IPI: 通过物理相互作用推断
19350579 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell-cell signaling IMP
IMP: 通过突变表型推断
19350579 GOA
involved in negative regulation of G1/S transition of mitotic cell cycle IDA
IDA: 通过直接分析推断
19350579 GOA
involved in negative regulation of T cell activation IMP
IMP: 通过突变表型推断
19350579 GOA
involved in negative regulation of T cell proliferation IDA
IDA: 通过直接分析推断
19350579 GOA
involved in negative regulation of cytokine production IDA
IDA: 通过直接分析推断
19350579 GOA
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
20711474 GOA
involved in positive regulation of protein autophosphorylation IDA
IDA: 通过直接分析推断
19350579 GOA
involved in positive regulation of protein phosphorylation IDA
IDA: 通过直接分析推断
22891158 GOA
involved in regulation of tissue remodeling IDA
IDA: 通过直接分析推断
25010402 GOA
involved in signal transduction IMP
IMP: 通过突变表型推断
19350579 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
12609765 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

GPNMB 蛋白结构

PKD

PKD: PKD domain (279 - 319)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 572 a.a.
蛋白主名 其他名称

transmembrane glycoprotein NMB

glycoprotein (transmembrane) nmb

重组 GPNMB 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70836 GPNMB/Osteoactivin Protein, Human (HEK293, His) Q14956-1 (A22-P486) ≥95%
HY-P75950 GPNMB/Osteoactivin Protein, Human (Isoform 2, HEK293, His) Q14956-2 (A22-P474) ≥95%
HY-P75951 GPNMB/Osteoactivin Protein, Human (Isoform 2, HEK293, Fc) Q14956-2 (A22-P474) ≥95%

关联疾病

疾病名称 别名
Amyloidosis, Primary Localized Cutaneous, 3

Amyloidosis Cutis Dyschromica

PLCA3

Acd

Primary Localized Cutaneous Amyloidosis 3

Amyloidosis Cutis Dyschromia

Lichen Amyloidosis

Amyloid Lichen

Lichen Amyloidosus

Amyloidosis, Primary Cutaneous

Macular Amyloidosis

Amyloidosis, Macular

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Borderline Glaucoma

Preglaucoma

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

Amyloidosis

Amyloid Disease

Amyloid

Amyloid Degeneration

Amyloidosis Nos

Amyloid Deposition

Amyloid Infiltration

Idiopathic Amyloidosis

Hyaloid Degeneration

Lardaceous Degeneration

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Takayasu Arteritis

Aortic Arch Syndrome

Pulseless Disease

Takayasu'S Arteritis

Idiopathic Aortitis

Young Female Arteritis

Aortic Arch Arteritis

Aortic Arches Defect

Aortic Arch Defects

Takayasu Disease

Aortic Arch Syndromes

Takayasu'S Disease

Ta

Obliterative Aortitis

Aortic Arch Giant-Cell Arteritis

Subclavian-Carotid Obstruction Syndrome

Idiopathic Medial Aortopathy And Arteriopathy

Takayasu Syndrome

Obliterative Brachiocephalic Arteritis Syndrome

Raeder-Harbitz Syndrome

Chronic Subclavian-Carotid Obstruction Syndrome

Giant-Cell Aortitis

Takayasu Aortitis

Nonspecific Aortoarteritis

Sclerosing Aortitis And Arteritis

Martorell 2 Syndrome

Young Female Aortic Arch Arteritis Syndrome

Primary Cutaneous Amyloidosis

Plca

Primary Localized Cutaneous Amyloidosis

Familial Primary Localized Cutaneous Amyloidosis

Amyloidosis Ix

Lichen Amyloidosis Familial

Amyloidosis, Primary Cutaneous

Pca

Amyloidosis 9

Amyloidosis Familial Cutaneous Lichen

Fplca

Familial Lichen Amyloidosis

Lymphangioleiomyomatosis

Lymphangiomyomatosis

LAM

Lung Lymphangioleiomyomatosis

Pulmonary Lymphangioleiomyomatosis

Lymphangioleiomyomatosis, Somatic

Lymphangio-Myomatosis

Iris Disease

Iris Diseases

Gaucher Disease, Type I

Glucocerebrosidase Deficiency

Acid Beta-Glucosidase Deficiency

Gba Deficiency

GD1

Gd I

Gaucher Disease, Noncerebral Juvenile

Gaucher Disease Type 1

Gaucher Disease Type I

Gaucher'S Disease Type I

Gaucher Disease

Gd 1

Non-Cerebral Juvenile Gaucher Disease

GD

Gaucher Disease 1

Adult Non-Neuronopathic Gaucher Disease

Noncerebral Juvenile Gaucher Disease

Type 1 Gaucher Disease

Gaucher Disease, Type 1

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus GPNMB MGD MGI:1934765
Macaca mulatta GPNMB VGNC VGNC:73123
Rattus norvegicus GPNMB RGD RGD:71008
Felis catus GPNMB VGNC VGNC:67413
Canis familiaris GPNMB VGNC VGNC:41389
Bos taurus GPNMB VGNC VGNC:29541
Others GPNMB NCBI