Alternative titles; symbols
HGNC Approved Gene Symbol: ADAMTSL3
Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:83,654,123-84,039,842 (from NCBI)
By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (1999) cloned ADAMTSL3, which they designated KIAA1233. The deduced protein contains immunoglobulin (Ig) and thrombospondin I (188060) domains. RT-PCR ELISA detected moderate expression in most adult and fetal tissues and specific brain regions examined. Slightly higher expression was found in spinal cord, and lower expression was found in spleen and testis.
By searching an EST database for sequences similar to punctin-1 (ADAMTSL1; 609198), followed by 5-prime and 3-prime RACE and PCR of a placenta cDNA library, Hall et al. (2003) cloned full-length ADAMTSL3, which they called punctin-2. The deduced 1,690-amino acid protein contains an N-terminal signal peptide, followed by a thrombospondin I repeat, a cysteine-rich region, a spacer, 8 thrombospondin I repeats, 3 Ig-like modules, 4 thrombospondin I repeats, and a C-terminal PLAC domain. Following removal of the signal peptide, the mature secreted protein has a calculated molecular mass of 186 kD. Punctin-2 has 16 putative N-glycosylation sites. Northern blot analysis detected a 7.5-kb mRNA that was expressed at high levels in heart, kidney, and liver, at moderate levels in skeletal muscle, small intestine, lung, and placenta, and at low levels in colon and spleen. No expression was detected in other tissues examined. Punctin-2 was expressed as a 7.5-kb transcript in mouse embryos in the second half of gestation. Glycosidase treatment confirmed that punctin-2 is a glycoprotein. Western blot analysis detected punctin-2 in the extracellular matrix, conditioned medium, and lysates of transfected COS-7 cells. Staining of the substratum following cell detachment confirmed extracellular matrix localization.
By genomic sequence analysis, Hall et al. (2003) mapped the human ADAMTSL3 gene to chromosome 15 and the mouse Adamtsl3 gene to chromosome 7.
Hall, N. G., Klenotic, P., Anand-Apte, B., Apte, S. ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases. Matrix Biol. 22: 501-510, 2003. [PubMed: 14667842] [Full Text: https://doi.org/10.1016/s0945-053x(03)00075-1]
Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 6: 337-345, 1999. [PubMed: 10574462] [Full Text: https://doi.org/10.1093/dnares/6.5.337]