2. Gene
  3. ADAMTS9 - ADAM metallopeptidase with thrombospondin type 1 motif 9 Gene

ADAMTS9 - ADAM metallopeptidase with thrombospondin type 1 motif 9 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：具有 1 型血小板反应蛋白基序 9 的 ADAM 金属肽酶

种属: Homo sapiens

基因 ID: 56999 | 基因类型: protein coding

关于 ADAMTS9

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:64,515,654-64,688,000 (from NCBI)

This gene has 10 transcripts (splice variants), 206 orthologues, 25 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 16.1), endometrium (RPKM 10.3) and 18 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。 ADAMTS 家族的成员与蛋白聚糖的裂解、发育过程中器官形状的控制以及血管生成的抑制有关。该基因定位于染色体 3p14.3-p14.2，这是已知在遗传性肾肿瘤中丢失的区域。可变剪接导致编码不同亚型的多个转录变体，这些亚型可能经历类似的蛋白水解加工。[RefSeq 提供，2016 年 1 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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]

ADAMTS9 基因产物(2)

mRNA Protein Name
NM_001318781.2 NP_001305710.1 A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 4 precursor
NM_182920.2 NP_891550.1 A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 1 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 metallopeptidase activity IDA
IDA: 通过直接分析推断
12514189 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within proteolysis IDA
IDA: 通过直接分析推断
12514189 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular matrix IDA
IDA: 通过直接分析推断
12514189 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

ADAMTS9 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (48 - 207)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (293 - 499)

TSP_1

TSP_1: Thrombospondin type 1 domain (593 - 642)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (753 - 871)

TSP_1

TSP_1: Thrombospondin type 1 domain (1004 - 1053)

TSP_1

TSP_1: Thrombospondin type 1 domain (1059 - 1108)

TSP_1

TSP_1: Thrombospondin type 1 domain (1114 - 1165)

TSP_1

TSP_1: Thrombospondin type 1 domain (1188 - 1239)

TSP_1

TSP_1: Thrombospondin type 1 domain (1246 - 1295)

TSP_1

TSP_1: Thrombospondin type 1 domain (1334 - 1383)

TSP_1

TSP_1: Thrombospondin type 1 domain (1389 - 1439)

TSP_1

TSP_1: Thrombospondin type 1 domain (1447 - 1481)

TSP_1

TSP_1: Thrombospondin type 1 domain (1504 - 1525)

TSP_1

TSP_1: Thrombospondin type 1 domain (1562 - 1612)

TSP_1

TSP_1: Thrombospondin type 1 domain (1618 - 1659)

TSP_1

TSP_1: Thrombospondin type 1 domain (1684 - 1729)

GON

GON: GON domain (1736 - 1934)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1800
  • 1935 a.a.
蛋白主名 其他名称

A disintegrin and metalloproteinase with thrombospondin motifs 9

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9

关联疾病

疾病名称 别名
Juvenile Nephronophthisis

Nephronophthisis

Nephronophthisis, Familial Juvenile
Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary
Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters
Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2
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
Wolfram Syndrome 1

WFS1

Didmoad

Wfs

Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness

Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Syndrome

Wolfram Syndrome
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
Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd
Diabetes Mellitus

Diabetes
Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1
Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset
Orofacial Cleft

Cleft, Orofacial
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00309 ADAMTS9 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ADAMTS9 VGNC VGNC:69388
Rattus norvegicus ADAMTS9 RGD RGD:1306889
Felis catus ADAMTS9 VGNC VGNC:59598
Canis familiaris ADAMTS9 VGNC VGNC:37605
Bos taurus ADAMTS9 VGNC VGNC:25630
Mus musculus ADAMTS9 MGD MGI:1916320
Others ADAMTS9 NCBI
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