1. Gene
  2. ADAMTS3 - ADAM metallopeptidase with thrombospondin type 1 motif 3 Gene

ADAMTS3 - ADAM metallopeptidase with thrombospondin type 1 motif 3 Gene

中文名称:具有 1 型血小板反应蛋白基序 3 的 ADAM 金属肽酶

种属: Homo sapiens

同用名: HKLLS3; ADAMTS-4

基因 ID: 9508 | 基因类型: protein coding

关于 ADAMTS3

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:72,280,969-72,569,221 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues, 25 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 1.4), ovary (RPKM 1.0) and 22 other tissues.

功能概要

该基因编码 ADAMTS (一种具有血小板反应蛋白基序的去整合素和金属蛋白酶) 蛋白家族的成员。该家族的成员共享几个不同的蛋白质模块,包括前肽区域、金属蛋白酶结构域、解整合素样结构域和 1 型血小板反应蛋白 (TS) 基序。这个家族的个别成员在 C 端 TS 基序的数量上有所不同,有些成员具有独特的 C 端结构域。编码的前原蛋白经过蛋白水解处理以产生成熟的蛋白酶。这种蛋白酶是前胶原氨基肽酶亚家族的成员,可能在关节软骨中 II 型纤维胶原蛋白的加工过程中发挥作用。[RefSeq 提供,2016 年 2 月]

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]

ADAMTS3 基因产物(1)

mRNA Protein Name
NM_014243.3 NP_055058.2 A disintegrin and metalloproteinase with thrombospondin motifs 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 endopeptidase activity IDA
IDA: 通过直接分析推断
24552833 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24552833 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in collagen biosynthetic process IDA
IDA: 通过直接分析推断
11408482 GOA
involved in positive regulation of vascular endothelial growth factor signaling pathway IDA
IDA: 通过直接分析推断
24552833 GOA
involved in protein processing IDA
IDA: 通过直接分析推断
11408482 GOA
involved in vascular endothelial growth factor production IDA
IDA: 通过直接分析推断
24552833 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
24552833 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

ADAMTS3 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (42 - 201)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (259 - 460)

TSP_1

TSP_1: Thrombospondin type 1 domain (556 - 605)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (713 - 827)

TSP_1

TSP_1: Thrombospondin type 1 domain (853 - 904)

TSP_1

TSP_1: Thrombospondin type 1 domain (912 - 966)

TSP_1

TSP_1: Thrombospondin type 1 domain (972 - 1015)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1205 a.a.
蛋白主名 其他名称

A disintegrin and metalloproteinase with thrombospondin motifs 3

ADAM-TS 3

ADAMTS3 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
ADAMTS3 O15072 UBQLN2 Homo sapiens Q9UHD9 32296183
种属内
ADAMTS3 O15072 UBQLN2 Homo sapiens Q9UHD9 32296183
种属内
ADAMTS3 O15072 UBQLN2 Homo sapiens Q9UHD9 32296183
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
Hennekam Lymphangiectasia-Lymphedema Syndrome 3

HKLLS3

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Protein-Losing Enteropathy

Protein-Losing Enteropathies

Enteropathy, Exudative

Exudative Enteropathy

Ple - [Protein-Losing Enteropathy]

Spondyloepimetaphyseal Dysplasia, Missouri Type

Metaphyseal Anadysplasia 1

Semd, Missouri Type

Spondyloepimetaphyseal Dysplasia Type 2

SEMDM

Spondyloepimetaphyseal Dysplasia Missouri Type

Missouri Type Of Spondyloepimetaphyseal Dysplasia

Semd Missouri Type

Semd Type 2

MANDP1

Semd-Mo

Spondyloepimetaphyseal Dysplasia Type Missouri

Spondylometaepiphyseal Dysplasia Type Missouri

Anadysplasia, Metaphyseal, Type 1

Bone Deterioration Disease
Bone Structure Disease
Degenerative Disc Disease

Intervertebral Disc Degeneration

Cervical Disc Degenerative Disorder

Cervical Disc Degenerative Disease

Lumbar Disc Degeneration

Vertebral Disc Disease

Degeneration Of Lumbar Intervertebral Disc

Intervertebral Disc Disorder

Discogenic Disease

Cartilage Disease

Cartilage Diseases

Cartilage

Cartilage Disorder

Chondropathy

Cartilage Disorders

Spondylolisthesis

Slipped Vertebrae

Acquired Spondylolisthesis

Bone Inflammation Disease

Osteitis

Bone Inflammatory Disease

Inflammatory Disorder Of Bone

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue 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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ADAMTS3 VGNC VGNC:69498
Felis catus ADAMTS3 VGNC VGNC:59594
Bos taurus ADAMTS3 VGNC VGNC:25626
Rattus norvegicus ADAMTS3 RGD RGD:1310750
Mus musculus ADAMTS3 MGD MGI:3045353
Others ADAMTS3 NCBI