2. Gene
  3. ADAMTS14 - ADAM metallopeptidase with thrombospondin type 1 motif 14 Gene

ADAMTS14 - ADAM metallopeptidase with thrombospondin type 1 motif 14 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 14 的 ADAM 金属肽酶

种属: Homo sapiens

基因 ID: 140766 | 基因类型: protein coding

关于 ADAMTS14

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:70,672,506-70,762,441 (from NCBI)

This gene has 2 transcripts (splice variants), 199 orthologues and 25 paralogues. Biased expression in gall bladder (RPKM 3.7), placenta (RPKM 3.6) and 13 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。这种酶从 I 型前胶原中切割氨基末端前肽，这是形成胶原纤维的必要步骤。该基因的突变可能与人类患者的骨关节炎有关。[RefSeq 提供，2016 年 5 月]

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]

ADAMTS14 基因产物(2)

mRNA Protein Name
NM_080722.4 NP_542453.2 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 2 preproprotein
NM_139155.3 NP_631894.2 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 1 precursor

ADAMTS14 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (91 - 207)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (261 - 460)

TSP_1

TSP_1: Thrombospondin type 1 domain (556 - 606)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (714 - 829)

TSP_1

TSP_1: Thrombospondin type 1 domain (855 - 906)

TSP_1

TSP_1: Thrombospondin type 1 domain (913 - 952)

TSP_1

TSP_1: Thrombospondin type 1 domain (975 - 1021)

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  • 1223 a.a.
蛋白主名 其他名称

A disintegrin and metalloproteinase with thrombospondin motifs 14

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14

关联疾病

疾病名称 别名
Tibialis Tendinitis
Patellar Tendinitis

Patellar Tendonitis
Osteoarthritis

Osteoarthrosis

Degenerative Joint Disease

Hypertrophic Arthritis

Arthropathy

Degenerative Polyarthritis

Degenerative Arthritis

Osteoarthrosis And Allied Disorder

Arthritis, Degenerative

Oa

Osteoarthritis Deformans

Osteoarthrosis Deformans

Kashin-Beck Disease
Radial Nerve Lesion

Lesion Of Radial Nerve

Radial Nerve Lesions

Radial Neuropathy

Radial Nerve Mononeuritis
Radial Neuropathy
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
Ehlers-Danlos Syndrome, Classic Type, 1

Ehlers-Danlos Syndrome, Type I

EDSCL1

Ehlers-Danlos Syndrome Classic Type 1

Ehlers-Danlos Syndrome Type 1

Ehlers-Danlos Syndrome, Type I, Formerly

Eds1, Formerly

Ehlers-Danlos Syndrome, Severe Classic Type, Formerly

Eds I, Formerly

Ehlers-Danlos Syndrome, Gravis Type, Formerly

Ehlers-Danlos Syndrome, Type 1

Type I Ehlers-Danlos Syndrome

Eds1

Eds I

Ehlers-Danlos Syndrome, Gravis Type

Ehlers-Danlos Syndrome, Severe Classic Type

Ehlers-Danlos Syndrome 1

Ehlers-Danlos, Classic Syndrome, Type 1

Ehlers-Danlos Syndrome 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
Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]
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-RS00295 ADAMTS14 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus ADAMTS14 VGNC VGNC:25618
Felis catus ADAMTS14 VGNC VGNC:59588
Canis familiaris ADAMTS14 VGNC VGNC:37593
Macaca mulatta ADAMTS14 VGNC VGNC:69407
Mus musculus ADAMTS14 MGD MGI:2179942
Rattus norvegicus ADAMTS14 RGD RGD:1308899
Others ADAMTS14 NCBI
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