2. Gene
  3. PLS3 - plastin 3 Gene

PLS3 - plastin 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：塑蛋白 3

种属: Homo sapiens

同用名: BMND18; T-plastin

基因 ID: 5358 | 基因类型: protein coding

关于 PLS3

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:115,561,174-115,650,861 (from NCBI)

This gene has 9 transcripts (splice variants), 264 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 88.8), lung (RPKM 70.6) and 23 other tissues.

功能概要

Plastins 是一个肌动蛋白结合蛋白家族，在整个真核生物进化过程中都是保守的，并在高等真核生物的大多数组织中表达。在人类中，已鉴定出两种普遍存在的塑化蛋白亚型 (L 和 T) 。 Plastin 1 (也称为 Fimbrin) 是第三种不同的 Plastin 亚型，它在小肠中以高水平特异性表达。 L 同种型仅在造血细胞谱系中表达，而 T 同种型已在具有复制潜力的实体组织的所有其他正常细胞 (成纤维细胞、内皮细胞、上皮细胞、黑素细胞等) 中发现。 T-plastin 和 L-plastin 蛋白的 C 末端 570 个氨基酸有 83% 相同。它在 N 末端附近包含一个潜在的钙结合位点。交替剪接导致多个转录变体。[RefSeq 提供，2010 年 2 月]

Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all Other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 Amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

PLS3 基因产物(5)

mRNA Protein Name
NM_001136025.5 NP_001129497.1 plastin-3 isoform 1
NM_001172335.3 NP_001165806.1 plastin-3 isoform 2
NM_001282337.2 NP_001269266.1 plastin-3 isoform 3
NM_001282338.2 NP_001269267.1 plastin-3 isoform 4
NM_005032.7 NP_005023.2 plastin-3 isoform 1
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bone development IMP
IMP: 通过突变表型推断
24088043 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

PLS3 蛋白结构

EF-hand_7

EF-hand_7: EF-hand domain pair (17 - 81)

CH

CH: Calponin homology (CH) domain (127 - 237)

CH

CH: Calponin homology (CH) domain (270 - 377)

CH

CH: Calponin homology (CH) domain (400 - 505)

CH

CH: Calponin homology (CH) domain (523 - 625)

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

plastin-3

T fimbrin

重组 PLS3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77220 T Plastin/PLS3 Protein, Human (His) P13797 (G102-N375) ≥95%

关联疾病

疾病名称 别名
Bone Mineral Density Quantitative Trait Locus 18

Bone Mineral Density Qtl18, Osteoporosis

BMND18

Osteoporosis And Osteoporotic Fractures

Osteoporosis And Osteoporotic Fractures, Susceptibility To

X-Linked Osteoporosis With Fractures
Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect
Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis
Sezary'S Disease

Sezary Syndrome

Sézary Syndrome

Sezary'S Lymphoma

Sezary Disease

Sezary Erythroderma

Sezary Lymphoma
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]
Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy
Mycosis Fungoides

Mycosis Fungoides Lymphoma

Alibert-Bazin Syndrome

Granuloma Fungoides

Classic Mycosis Fungoides

Mycosis Fungoides, Alibert-Bazin Type
Spinal Muscular Atrophy, Type Iii

SMA3

Juvenile Spinal Muscular Atrophy

Kugelberg-Welander Disease

Sma Iii

Kugelberg-Welander Syndrome

Kws

Muscular Atrophy, Juvenile

Spinal Muscular Atrophy, Mild Childhood And Adolescent Form

Spinal Muscular Atrophy-3

Spinal Muscular Atrophy Type 3

Spinal Muscular Atrophy, Type Iii, Modifier Of

Type Iii Spinal Muscular Atrophy

Sma 3

Proximal Spinal Muscular Atrophy Type 3

Sma Type 3

Sma Type Iii

Sma-Iii

Spinal Muscular Atrophy 3

Spinal Muscular Atrophy Mild Childhood And Adolescent Form

Spinal Muscular Atrophy Type Iii

Wohlfart-Kugelberg-Welander Disease

Atrophy, Muscular, Spinal, Type Iii
Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy
Osteogenesis Imperfecta, Type Xv

Osteogenesis Imperfecta Type 15

OI15

Osteogenesis Imperfecta Type Xv

Oi, Type Xv

Osteogenesis Imperfecta 15

Oi Type Xv

Oi-Xv
Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease

SMA1

Spinal Muscular Atrophy 1

Sma I

Sma, Infantile Acute Form

Muscular Atrophy, Infantile

Spinal Muscular Atrophy-1

Hmn Proximal Type I

Infantile Muscular Atrophy

Proximal Spinal Muscular Atrophy Type 1

Sma Type 1

Sma Type I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Progressive Muscular Atrophy Of Infancy

Proximal Spinal Muscular Atrophy, Type 1

Werdnig Hoffmann Disease

Infantile Spinal Muscular Atrophy

Infantile-Onset Spinal Muscular Atrophy

Proximal Hereditary Motor Neuropathy Type I

Sma Infantile Acute Form

Spinal Muscular Atrophy Type I

Werdnig-Hoffman Disease

Atrophy, Muscular, Spinal, Type 1
Osteoporosis, Juvenile

Idiopathic Juvenile Osteoporosis

Idiopathic Osteoporosis

Juvenile Osteoporosis

Ijo
Retinitis Pigmentosa 7

Leber Congenital Amaurosis 18

RP7

Retinitis Pigmentosa 7, Digenic Form

Retinitis Pigmentosa 7 And Digenic Form

Retinitis Pigmentosa 7, Digenic

LCA18

Retinitis Pigmentosa 7 Digenic
Spinal Muscular Atrophy, Type Ii

SMA2

Sma Ii

Muscular Atrophy, Spinal, Intermediate Type

Muscular Atrophy, Spinal, Infantile Chronic Form

Intermediate Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Ii

Spinal Muscular Atrophy-2

Spinal Muscular Atrophy 2

Spinal Muscular Atrophy Type 2

Dubowitz Disease

Proximal Spinal Muscular Atrophy Type 2

Sma Type 2

Sma Type Ii

Sma-Ii

Spinal Muscular Atrophy Infantile Chronic Form

Spinal Muscular Atrophy Intermediate Type

Spinal Muscular Atrophies Of Childhood

Atrophy, Muscular, Spinal, Type Ii

Muscular Atrophy, Spinal, Type Ii
Cole-Carpenter Syndrome

Cole Carpenter Syndrome

Bone Fragility Craniosynostosis Proptosis Hydrocephalus

Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features

Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness
Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I

OI1

Oi, Type I

Osteogenesis Imperfecta Tarda

Osteogenesis Imperfecta With Blue Sclerae

Osteogenesis Imperfecta Type 1

Adair-Dighton Syndrome

Mild Osteogenesis Imperfecta

Non-Deforming Osteogenesis Imperfecta

Oi Type 1

Van Der Hoeve Syndrome

Classic Non-Deforming Oi With Blue Sclerae

Osteogenesis Imperfecta 1

Oi-I

Osteopenic Non-Fracture Syndrome

Osteogenesis Imperfecta, Mild

Osteogenesis Imperfecta

Lobstein'S Disease
Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4

Osteogenesis Imperfecta Type Iv

OI4

Oi, Type Iv

Osteogenesis Imperfecta With Normal Sclerae

Oi Type Iv

Oi Type 4

Osteogenesis Imperfecta With Normal Sclera

Common Variable Oi With Normal Sclerae

Osteogenesis Imperfecta 4

Oi-Iv
Dubowitz Syndrome

Dubowitz'S Syndrome

Dwarfism-Eczema-Peculiar Facies Syndrome

Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10740 PLS3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PLS3 RGD RGD:621409
Bos taurus PLS3 VGNC VGNC:33052
Felis catus PLS3 VGNC VGNC:68913
Macaca mulatta PLS3 VGNC VGNC:76181
Canis familiaris PLS3 VGNC VGNC:44712
Mus musculus PLS3 MGD MGI:104807
Others PLS3 NCBI
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