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  2. THSD1 - thrombospondin type 1 domain containing 1 Gene

THSD1 - thrombospondin type 1 domain containing 1 Gene

中文名称:含血小板反应蛋白 1 型域 1

种属: Homo sapiens

同用名: TMTSP; ANIB12; UNQ3010

基因 ID: 55901 | 基因类型: protein coding

关于 THSD1

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:52,377,167-52,406,172 (from NCBI)

This gene has 3 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Broad expression in lung (RPKM 7.5), placenta (RPKM 5.7) and 21 other tissues.

功能概要

该基因编码的蛋白质包含 1 型血小板反应蛋白结构域,该结构域存在于许多参与补体途径的蛋白质以及细胞外基质蛋白中。已经观察到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 1 月]

The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]

THSD1 基因产物(2)

mRNA Protein Name
NM_018676.4 NP_061146.1 thrombospondin type-1 domain-containing protein 1 isoform 1 precursor
NM_199263.3 NP_954872.1 thrombospondin type-1 domain-containing protein 1 isoform 2 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 extracellular matrix binding IMP
IMP: 通过突变表型推断
27895300 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
27895300 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in focal adhesion assembly IDA
IDA: 通过直接分析推断
29069646 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endosome IDA
IDA: 通过直接分析推断
29069646 GOA
located in focal adhesion IMP
IMP: 通过突变表型推断
27895300 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

THSD1 蛋白结构

TSP_1

TSP_1: Thrombospondin type 1 domain (345 - 392)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 852 a.a.
蛋白主名 其他名称

thrombospondin type-1 domain-containing protein 1

4833423O18Rik

重组 THSD1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71360 THSD1 Protein, Human (HEK293, His) Q9NS62-2 (E25-I361) ≥95%

关联疾病

疾病名称 别名
Aneurysm, Intracranial Berry, 12

ANIB12

Intracranial Berry Aneurysm 12

Familial Cerebral Saccular Aneurysm

Familial Berry Aneurysm

Familial Intracranial Saccular Aneurysm

Hydrops Fetalis, Nonimmune

Hydrops Fetalis

Non-Immune Hydrops Fetalis

NIHF

Familial Non-Immune Hydrops Fetalis

Hydrops Fetalis Nonimmune

Idiopathic Hydrops Fetalis

Hb Bart'S Hydrops Fetalis

Alpha-Thalassemia Hydrops Fetalis

Alpha-Thalassemia Major

Hemoglobin Bart'S Hydrops Fetalis

Homozygous Alpha0-Thalassemia

Fetal Anasarca

Fetal Hydrops

Generalized Fetal Edema

Hf

Non-Immune Hf

Non-Immune Fetal Edema

Non-Immune Fetal Hydrops

Hydrops Fetalis, Non-Immune

Hemoglobin Bart'S Hydrops Syndrome

Enterokinase Deficiency

Enteropeptidase Deficiency

Congenital Enterokinase Deficiency

Congenital Enteropathy Due To Enteropeptidase Deficiency

Deficiency Of Enteropeptidase

ENTKD

Cerebral Arterial Disease

Cerebral Arterial Diseases

Unilateral Retinoblastoma
Intracranial Berry Aneurysm

Familial Aneurysmal Subarachnoid Hemorrhage

Familial Berry Aneurysm

Familial Intracranial Saccular Aneurysm

Saccular Cerebral Aneurysm

Aneurysm, Intracranial Berry

Aneurysmal Subarachnoid Hemorrhage

Aneurysm, Intracranial Berry, 1

Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease

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 THSD1 MGD MGI:1929096
Rattus norvegicus THSD1 RGD RGD:1306998
Canis familiaris THSD1 VGNC VGNC:47357
Bos taurus THSD1 VGNC VGNC:35849
Felis catus THSD1 VGNC VGNC:66175
Macaca mulatta THSD1 VGNC VGNC:78402
Others THSD1 NCBI