1. Gene
  2. ADAMTS9 - ADAM metallopeptidase with thrombospondin type 1 motif 9 Gene

ADAMTS9 - ADAM metallopeptidase with thrombospondin type 1 motif 9 Gene

Homo sapiens
Gene ID: 56999 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables metallopeptidase activity IDA
IDA: Inferred from direct assay
12514189 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within proteolysis IDA
IDA: Inferred from direct assay
12514189 GOA
Cellular Component GO Annotation Evidence Reference 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)

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  • 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