1. Gene
  2. ADAMTS6 - ADAM metallopeptidase with thrombospondin type 1 motif 6 Gene

ADAMTS6 - ADAM metallopeptidase with thrombospondin type 1 motif 6 Gene

Homo sapiens

Also known as ADAM-TS6; ADAMTS-6; ADAM-TS 6

Gene ID: 11174 | Gene type: protein coding

About ADAMTS6

Cytogenetic location: 5q12.3 Genomic coordinates (GRCh38): 5:65,148,738-65,481,920 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and 25 paralogues. Broad expression in placenta (RPKM 1.3), gall bladder (RPKM 1.1) and 19 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 Enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]

ADAMTS6 Products(1)

mRNA Protein Name
NM_197941.4 NP_922932.2 A disintegrin and metalloproteinase with thrombospondin motifs 6 preproprotein

ADAMTS6 Protein Structure

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (42 - 191)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (250 - 468)

TSP_1

TSP_1: Thrombospondin type 1 domain (562 - 612)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (718 - 829)

TSP_1

TSP_1: Thrombospondin type 1 domain (847 - 899)

TSP_1

TSP_1: Thrombospondin type 1 domain (907 - 959)

TSP_1

TSP_1: Thrombospondin type 1 domain (967 - 1005)

TSP_1

TSP_1: Thrombospondin type 1 domain (1024 - 1071)

PLAC

PLAC: PLAC (protease and lacunin) domain (1082 - 1115)

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  • 1117 a.a.
Protein Preferred Names Protein Names

A disintegrin and metalloproteinase with thrombospondin motifs 6

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6

Related Diseases

Diseases Alias
Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

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

Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Winchester Syndrome

WNCHRS

Winchester Disease

Winchester-Grossman Syndrome

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

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

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
Mus musculus ADAMTS6 MGD MGI:1347348
Rattus norvegicus ADAMTS6 RGD RGD:1307678
Bos taurus ADAMTS6 VGNC VGNC:25628
Felis catus ADAMTS6 VGNC VGNC:102154
Macaca mulatta ADAMTS6 VGNC VGNC:69500
Canis familiaris ADAMTS6 VGNC VGNC:37602
Others ADAMTS6 NCBI