ADAMTS3 - ADAM metallopeptidase with thrombospondin type 1 motif 3 Gene

Also Known as HKLLS3; ADAMTS-4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9508

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
Molecular Function GO Annotation Evidence References Source
enables endopeptidase activity IDA
IDA: Inferred from direct assay
24552833 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24552833 GOA
Biological Process GO Annotation Evidence References Source
involved in collagen biosynthetic process IDA
IDA: Inferred from direct assay
11408482 GOA
involved in positive regulation of vascular endothelial growth factor signaling pathway IDA
IDA: Inferred from direct assay
24552833 GOA
involved in protein processing IDA
IDA: Inferred from direct assay
11408482 GOA
involved in vascular endothelial growth factor production IDA
IDA: Inferred from direct assay
24552833 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular space IDA
IDA: Inferred from direct assay
24552833 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1205 a.a.
Protein Preferred Names Protein Names

A disintegrin and metalloproteinase with thrombospondin motifs 3

  • ADAM-TS 3

ADAMTS3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ADAMTS3 O15072 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
ADAMTS3 O15072 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
ADAMTS3 O15072 UBQLN2 Homo sapiens Q9UHD9 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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