1. Gene
  2. ADAMTS8 - ADAM metallopeptidase with thrombospondin type 1 motif 8 Gene

ADAMTS8 - ADAM metallopeptidase with thrombospondin type 1 motif 8 Gene

中文名称:具有 1 型血小板反应蛋白基序 8 的 ADAM 金属肽酶

种属: Homo sapiens

同用名: METH2; ADAM-TS8

基因 ID: 11095 | 基因类型: protein coding

关于 ADAMTS8

Cytogenetic location: 11q24.3 Genomic coordinates (GRCh38): 11:130,404,923-130,428,609 (from NCBI)

This gene has 2 transcripts (splice variants), 210 orthologues and 25 paralogues. Biased expression in lung (RPKM 12.6), appendix (RPKM 7.0) and 8 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酶。该酶包含两个 C 末端 TS 基序,并破坏体内的血管生成。许多疾病已被定位在该基因附近,最显着的是肺肿瘤。已在多种人类癌症中观察到该基因的表达减少,并且该基因已被提议作为潜在的肿瘤抑制因子。[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 enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]

ADAMTS8 基因产物(1)

mRNA Protein Name
NM_007037.6 NP_008968.4 A disintegrin and metalloproteinase with thrombospondin motifs 8 preproprotein

ADAMTS8 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (47 - 149)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (219 - 429)

TSP_1

TSP_1: Thrombospondin type 1 domain (531 - 580)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (691 - 809)

TSP_1

TSP_1: Thrombospondin type 1 domain (839 - 887)

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  • 889 a.a.
蛋白主名 其他名称

A disintegrin and metalloproteinase with thrombospondin motifs 8

ADAMTS-8

关联疾病

疾病名称 别名
Colorectal Cancer, Hereditary Nonpolyposis, Type 2

HNPCC2

Fcc2

Coca2

Hereditary Nonpolyposis Colorectal Cancer Type 2

Colon Cancer, Familial Nonpolyposis, Type 2

Familial Nonpolyposis Colon Cancer Type 2

Hereditary Non-Polyposis Colorectal Cancer 2

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 2

Weill-Marchesani Syndrome

Gemss Syndrome

Spherophakia-Brachymorphia Syndrome

Marchesani-Weill Syndrome

Wms

Congenital Mesodermal Dystrophy

Mesodermal Dysmorphodystrophy, Congenital

Spherophakia Brachymorphia Syndrome

Mesodermal Dysmorphodystrophy Congenital

Wm Syndrome

Brachydactyly-Spherophakia Syndrome

Brachymorphy With Spherophakia Syndrome

Congenital Mesodermal Dysmorphodystrophy

Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant

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
Bos taurus ADAMTS8 VGNC VGNC:25629
Felis catus ADAMTS8 VGNC VGNC:59597
Macaca mulatta ADAMTS8 VGNC VGNC:69501
Rattus norvegicus ADAMTS8 RGD RGD:1308511
Mus musculus ADAMTS8 MGD MGI:1353468
Canis familiaris ADAMTS8 VGNC VGNC:37604
Others ADAMTS8 NCBI