1. Gene
  2. ADAMTS12 - ADAM metallopeptidase with thrombospondin type 1 motif 12 Gene

ADAMTS12 - ADAM metallopeptidase with thrombospondin type 1 motif 12 Gene

中文名称:具有 1 型血小板反应蛋白基序 12 的 ADAM 金属肽酶

种属: Homo sapiens

同用名: PRO4389

基因 ID: 81792 | 基因类型: protein coding

关于 ADAMTS12

Cytogenetic location: 5p13.3-p13.2 Genomic coordinates (GRCh38): 5:33,523,535-33,891,990 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 209 orthologues and 25 paralogues. Broad expression in fat (RPKM 3.5), gall bladder (RPKM 2.0) and 19 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-1) 基序。该家族的个别成员在 C 端 TS-1 基序的数量上有所不同,有些成员具有独特的 C 端结构域。该基因编码的酶包含八个 TS-1 基序。它可能通过其蛋白水解活性或作为潜在参与细胞粘附调节的分子在胎儿发育过程中或肿瘤过程中在肺细胞中发挥作用。[RefSeq 提供,2008 年 7 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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The Enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]

ADAMTS12 基因产物(3)

mRNA Protein Name
NM_001324511.2 NP_001311440.1 A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 2 precursor
NM_001324512.2 NP_001311441.1 A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 3 precursor
NM_030955.4 NP_112217.2 A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 1 preproprotein
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables metalloendopeptidase activity IDA
IDA: 通过直接分析推断
16611630 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16611630 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell migration IMP
IMP: 通过突变表型推断
21494557 GOA
involved in cell-matrix adhesion IMP
IMP: 通过突变表型推断
21494557 GOA
involved in cellular response to BMP stimulus IDA
IDA: 通过直接分析推断
22247065 GOA
involved in cellular response to interleukin-1 IMP
IMP: 通过突变表型推断
18485748 GOA
involved in cellular response to tumor necrosis factor IMP
IMP: 通过突变表型推断
18485748 GOA
involved in negative regulation of cellular response to hepatocyte growth factor stimulus IDA
IDA: 通过直接分析推断
17895370 GOA
involved in negative regulation of cellular response to vascular endothelial growth factor stimulus IDA
IDA: 通过直接分析推断
17895370 GOA
involved in negative regulation of chondrocyte differentiation IDA
IDA: 通过直接分析推断
22247065 GOA
involved in negative regulation of hepatocyte growth factor receptor signaling pathway IDA
IDA: 通过直接分析推断
17895370 GOA
involved in proteoglycan catabolic process IDA
IDA: 通过直接分析推断
17895370 GOA
involved in proteolysis involved in protein catabolic process IDA
IDA: 通过直接分析推断
16611630 GOA
involved in proteolysis involved in protein catabolic process IMP
IMP: 通过突变表型推断
18485748 GOA
involved in regulation of endothelial tube morphogenesis IDA
IDA: 通过直接分析推断
17895370 GOA
involved in regulation of inflammatory response IDA
IDA: 通过直接分析推断
23019333 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

ADAMTS12 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (52 - 195)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (246 - 456)

TSP_1

TSP_1: Thrombospondin type 1 domain (547 - 596)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (702 - 813)

TSP_1

TSP_1: Thrombospondin type 1 domain (831 - 882)

TSP_1

TSP_1: Thrombospondin type 1 domain (889 - 913)

TSP_1

TSP_1: Thrombospondin type 1 domain (951 - 996)

TSP_1

TSP_1: Thrombospondin type 1 domain (1320 - 1365)

TSP_1

TSP_1: Thrombospondin type 1 domain (1371 - 1394)

TSP_1

TSP_1: Thrombospondin type 1 domain (1430 - 1472)

TSP_1

TSP_1: Thrombospondin type 1 domain (1477 - 1531)

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  • 1500
  • 1594 a.a.
蛋白主名 其他名称

A disintegrin and metalloproteinase with thrombospondin motifs 12

ADAM-TS 12

ADAMTS12 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
ADAMTS12 P58397 HEL-S-72 Homo sapiens B4DJ51 25416956
种属内
ADAMTS12 P58397 COMP Homo sapiens P49747 18485748
种属内
ADAMTS12 P58397 COMP Homo sapiens P49747 16611630
种属内
ADAMTS12 P58397 MYL6 Homo sapiens P60660 31515488
种属内
ADAMTS12 P58397 MYL6 Homo sapiens P60660 25416956
种属内
ADAMTS12 P58397 MEOX2 Homo sapiens P50222 25416956
种属内
ADAMTS12 P58397 MEOX2 Homo sapiens P50222 25416956
种属间
ADAMTS12 P58397 Comp Mus musculus Q9R0G6
Y2H
16611630
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
Brachydactyly, Type A1, B

BDA1B

Brachydactyly Type A1b

Chromosome 5p13 Duplication Syndrome

5p13 Microduplication Syndrome

Trisomy 5p13

Dup(5)(P13)

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

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 ADAMTS12 VGNC VGNC:25616
Canis familiaris ADAMTS12 VGNC VGNC:50867
Rattus norvegicus ADAMTS12 RGD RGD:1307323
Macaca mulatta ADAMTS12 VGNC VGNC:69398
Felis catus ADAMTS12 VGNC VGNC:102152
Mus musculus ADAMTS12 MGD MGI:2146046
Others ADAMTS12 NCBI