InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ADAMTS17

Summary

InnateDB Protein

IDBP-31952.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ADAMTS17

Protein Name

ADAM metallopeptidase with thrombospondin type 1 motif, 17

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000268070

InnateDB Gene

IDBG-31950 (ADAMTS17)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000250}.

Disease Associations

Weill-Marchesani-like syndrome (WMLS) [MIM:613195]: A disorder characterized by many of the key features of Weill- Marchesani syndrome, including lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. However, the characteristic brachydactyly or decreased joint flexibility of Weill-Marchesani syndrome are absent. {ECO:0000269PubMed:19836009}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow and skeletal muscle. Isoform 1 and isoform 2 are expressed at high levels in the fetal heart, kidney, and whole eye, whereas a weak expression is seen in the fetal liver. {ECO:0000269PubMed:19836009}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004222	metalloendopeptidase activity
GO:0008233	peptidase activity
GO:0008270	zinc ion binding

Biological Process

GO:0006508

proteolysis

Cellular Component

GO:0005578	proteinaceous extracellular matrix
GO:0031012	extracellular matrix

Protein Structure and Domains

PDB ID

InterPro

IPR000884 Thrombospondin, type 1 repeat
IPR001590 Peptidase M12B, ADAM/reprolysin
IPR002870 Peptidase M12B, propeptide
IPR006586 ADAM, cysteine-rich
IPR010294 ADAM-TS Spacer 1
IPR010909 PLAC
IPR013273 Peptidase M12B, ADAM-TS

PFAM

PF00090
PF01421
PF01562
PF08516
PF05986
PF08686

PRINTS

PR01857

PIRSF

SMART

SM00209
SM00608

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt