Entity Details

Primary name ATS3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15072
EntryNameATS3_HUMAN
FullNameA disintegrin and metalloproteinase with thrombospondin motifs 3
TaxID9606
Evidenceevidence at protein level
Length1205
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesADAMTS3

GO terms

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GOName
GO:0001701 in utero embryonic development
GO:0004175 endopeptidase activity
GO:0004222 metalloendopeptidase activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0008201 heparin binding
GO:0008270 zinc ion binding
GO:0010573 vascular endothelial growth factor production
GO:0016485 protein processing
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
GO:0031012 extracellular matrix
GO:0032964 collagen biosynthetic process
GO:0070062 extracellular exosome
GO:0097435 supramolecular fiber organization
GO:1900748 positive regulation of vascular endothelial growth factor signaling pathway

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000884 Thrombospondin type-1 (TSP1) repeatRepeatRepeat
IPR001590 Peptidase M12B, ADAM/reprolysinDomainDomain
IPR002870 Peptidase M12B, propeptideDomainDomain
IPR010294 ADAM-TS Spacer 1DomainDomain
IPR010909 PLACDomainDomain
IPR013273 ADAMTS/ADAMTS-likeFamilyFamily
IPR024079 Metallopeptidase, catalytic domain superfamilyFamilyHomologous superfamily
IPR036383 Thrombospondin type-1 (TSP1) repeat superfamilyFamilyHomologous superfamily
IPR041645 ADAM cysteine-rich domain 2DomainDomain

Diseases

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Disease IDSourceNameDescription
618154 OMIMHennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3)A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest mental retardation. HKLLS3 is characterized by widespread congenital edema, facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
ATS3_HUMANUBQL2_HUMANBioGRID, IntAct32296183 details