1. Gene
  2. THBS3 - thrombospondin 3 Gene

THBS3 - thrombospondin 3 Gene

中文名称:血小板反应蛋白 3

种属: Homo sapiens

同用名: TSP3

基因 ID: 7059 | 基因类型: protein coding

关于 THBS3

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,195,588-155,209,178 (from NCBI)

This gene has 11 transcripts (splice variants), 238 orthologues and 5 paralogues. Ubiquitous expression in endometrium (RPKM 9.2), gall bladder (RPKM 7.8) and 25 other tissues.

功能概要

该基因编码的蛋白质属于血小板反应蛋白家族。血小板反应蛋白家族成员是粘附糖蛋白,可介导细胞与细胞和细胞与基质的相互作用。该蛋白质形成由单个二硫键连接的五聚体分子。该基因与 metaxin 1 共享一个共同的启动子。交替剪接导致编码和非编码转录物变体。[RefSeq 提供,2011 年 11 月]

The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]

THBS3 基因产物(15)

mRNA Protein Name
NM_001252607.2 NP_001239536.1 thrombospondin-3 isoform 2 precursor
NM_001252608.2 NP_001239537.1 thrombospondin-3 isoform 3 precursor
NM_001407487.1 NP_001394416.1 thrombospondin-3 isoform 4 precursor
NM_001407488.1 NP_001394417.1 thrombospondin-3 isoform 5 precursor
NM_001407490.1 NP_001394419.1 thrombospondin-3 isoform 6
NM_001407554.1 NP_001394483.1 thrombospondin-3 isoform 7 precursor
NM_001407555.1 NP_001394484.1 thrombospondin-3 isoform 8 precursor
NM_001407556.1 NP_001394485.1 thrombospondin-3 isoform 9
NM_001407557.1 NP_001394486.1 thrombospondin-3 isoform 9
NM_001407558.1 NP_001394487.1 thrombospondin-3 isoform 10
NM_001407559.1 NP_001394488.1 thrombospondin-3 isoform 11
NM_001407560.1 NP_001394489.1 thrombospondin-3 isoform 12
NM_001407561.1 NP_001394490.1 thrombospondin-3 isoform 12
NM_001407562.1 NP_001394491.1 thrombospondin-3 isoform 14
NM_007112.5 NP_009043.1 thrombospondin-3 isoform 1 precursor
基因本体论
  • 分子功能
  • 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
8288588 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
11943589 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

THBS3 蛋白结构

COMP

COMP: Cartilage oligomeric matrix protein (227 - 270)

EGF_CA

EGF_CA: Calcium-binding EGF domain (316 - 350)

EGF_CA

EGF_CA: Calcium-binding EGF domain (370 - 411)

TSP_3

TSP_3: Thrombospondin type 3 repeat (492 - 527)

TSP_3

TSP_3: Thrombospondin type 3 repeat (551 - 586)

TSP_3

TSP_3: Thrombospondin type 3 repeat (587 - 609)

TSP_3

TSP_3: Thrombospondin type 3 repeat (610 - 647)

TSP_3

TSP_3: Thrombospondin type 3 repeat (649 - 687)

TSP_3

TSP_3: Thrombospondin type 3 repeat (688 - 722)

TSP_C

TSP_C: Thrombospondin C-terminal region (741 - 941)

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  • 800
  • 956 a.a.
蛋白主名 其他名称

thrombospondin-3

THBS3 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
THBS3 P49746 NEK7 Homo sapiens Q8TDX7 32814053
种属内
THBS3 P49746 NEK7 Homo sapiens Q8TDX7 32814053
种属内
THBS3 P49746 NEK7 Homo sapiens Q8TDX7 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Pseudoachondroplasia

PSACH

Pseudoachondroplastic Dysplasia

Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome

Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

Pseudoachondroplastic Spondyloepiphyseal Dysplasia

Spondyloepiphyseal Dysplasia Pseudoachondroplastic

Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

BCKDKD

Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency

Bckdk Deficiency

Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency

Tracheal Calcification

Calcification Of Trachea

Pregnancy Adenoma

Lactating Adenoma

Multiple Epiphyseal Dysplasia

Med

Polyepiphyseal Dysplasia

Edm

Epiphyseal Dysplasia, Multiple, 1

Epiphyseal Dysplasia, Multiple, 2

Epiphyseal Dysplasia, Multiple, 3

Epiphyseal Dysplasia, Multiple, 4

Epiphyseal Dysplasia, Multiple, 5

Epiphyseal Dysplasia, Multiple

Edm1

Edm2

Edm3

Edm4

Edm5

Epiphyseal Dysplasia, Fairbank Type

Epiphyseal Dysplasia, Ribbing Type

Multiple Epiphyseal Dysplasia, Autosomal Dominant

Multiple Epiphyseal Dysplasia, Autosomal Recessive

Rmed

Dysplasia, Epiphyseal, Multiple

Osteochondrodysplasias

Alveolar Echinococcosis

Echinococcus Multilocularis Infection

Echinococcosis

Alveolococcosis

Multilocular Hydatid

Small Fox Tapeworm

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
Rattus norvegicus THBS3 RGD RGD:1596780
Mus musculus THBS3 MGD MGI:98739
Macaca mulatta THBS3 VGNC VGNC:78345
Bos taurus THBS3 VGNC VGNC:35830
Canis familiaris THBS3 VGNC VGNC:47337
Felis catus THBS3 VGNC VGNC:66156