ADAMTS9 - ADAM metallopeptidase with thrombospondin type 1 motif 9 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56999

About 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.

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. 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 Products (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
Molecular Function GO Annotation Evidence References Source
enables metallopeptidase activity IDA
IDA: Inferred from direct assay
12514189 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within proteolysis IDA
IDA: Inferred from direct assay
12514189 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular matrix IDA
IDA: Inferred from direct assay
12514189 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

ADAMTS9 Protein Structure

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.
Protein Preferred Names Protein Names

A disintegrin and metalloproteinase with thrombospondin motifs 9

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

Related Diseases

Diseases Alias
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

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 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