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

ADAMTS3 - ADAM metallopeptidase with thrombospondin type 1 motif 3 Gene

Homo sapiens

Also known as HKLLS3; ADAMTS-4

Gene ID: 9508 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_014243.3 NP_055058.2 A disintegrin and metalloproteinase with thrombospondin motifs 3 preproprotein

ADAMTS3 Protein Structure

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)

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  • 1205 a.a.
Protein Preferred Names Protein Names

A disintegrin and metalloproteinase with thrombospondin motifs 3

ADAM-TS 3

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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