Version 5.4
Homo sapiens Protein: ADAMTSL4
Summary
InnateDB Protein IDBP-102131.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ADAMTSL4
Protein Name ADAMTS-like 4
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000358037
InnateDB Gene IDBG-102129 (ADAMTSL4)
Protein Structure
UniProt Annotation
Function Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis. {ECO:0000269PubMed:16364318, ECO:0000269PubMed:21989719}.
Subcellular Localization Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:21989719}. Note=Colocalizes with FMN1 microfibrils in the eye ECM.
Disease Associations Ectopia lentis 2, isolated, autosomal recessive (ECTOL2) [MIM:225200]: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. {ECO:0000269PubMed:19200529}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ectopia lentis et pupillae (ECTOLP) [MIM:225200]: An ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy. {ECO:0000269PubMed:20702823}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart, kidney, liver, lung and skeletal muscle, but weaker expression in fetal brain and skin. {ECO:0000269PubMed:19200529}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
Experimentally validated
Total 31 [view]
Protein-Protein 31 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0004222 metalloendopeptidase activity
GO:0005515 protein binding
Biological Process
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0043065 positive regulation of apoptotic process
Cellular Component
GO:0005575 cellular_component
GO:0031012 extracellular matrix
Protein Structure and Domains
PDB ID
InterPro IPR000884 Thrombospondin, type 1 repeat
IPR010294 ADAM-TS Spacer 1
PFAM PF00090
PF05986
PRINTS
PIRSF
SMART SM00209
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6UY14
PhosphoSite PhosphoSite-Q6UY14
TrEMBL
UniProt Splice Variant
Entrez Gene 54507
UniGene Hs.516243
RefSeq NP_079284
HUGO HGNC:19706
OMIM 610113
CCDS CCDS30852
HPRD 18237
IMGT
EMBL AF217974 AL356356 AY358122 BC027478 BC071852 BC094811
GenPept AAG17217 AAH27478 AAH71852 AAH94811 AAQ88489 CAI15499 CAI15500

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca