A disintegrin and metalloproteinase with thrombospondin motifs 17 (ADAMTS17)
The protein contains 1095 amino acids for an estimated molecular weight of 121127 Da.
No function (updated: Oct. 10, 2018)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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| Variant | Description |
|---|---|
| dbSNP:rs7496668 | |
| dbSNP:rs28567966 | |
| empty | |
| dbSNP:rs2573652 |
No binding partner found
The reference OMIM entry for this protein is 607511
A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 17; adamts17
DESCRIPTION
ADAMTS17 is a member of the large ADAMTS family of zinc-dependent proteases. For a general description of the ADAMTS gene family, see ADAMTS1 (605174).CLONING
Using homology with the metalloprotease domain of ADAMTS proteins, Cal et al. (2002) identified ADAMTS17 within a genomic database. They obtained the full-length clone by PCR and 5-prime and 3-prime RACE of fetal tissue cDNA libraries. The deduced protein contains an N-terminal signal peptide, followed by a propeptide; a metalloprotease catalytic domain that includes the Zn-binding motif; a disintegrin-like domain; a central thrombospondin I (THBS1; 188060)-like motif; a cysteine-rich domain; a spacer region; 3 C-terminal THBS1 repeats; and a protease-lacunin (PLAC)-like domain. It also has 7 N-glycosylation sites. ADAMTS17 shares 56% sequence identity with ADAMTS19 (607513), including 88% identity within the catalytic domains. PCR analysis revealed that ADAMTS17 is expressed in fetal lung and in adult brain, prostate, and liver. Morales et al. (2009) analyzed ADAMTS17 expression in cDNA libraries from various adult and fetal tissues and found that transcripts of both a longer 'a' isoform, spanning 22 exons and coding for 1,095 amino acids, and a shorter 'b' isoform, spanning 16 exons and coding for 502 amino acids, showed high expression in adult lung, brain, whole eye, and retina. Isoform 'a' showed weaker expression in heart, kidney, and skeletal muscle, and was not expressed at all in bone marrow, whereas expression of isoform 'b' was weak in kidney, bone marrow, and skeletal muscle. Both transcripts demonstrated high expression of ADAMTS17 in fetal brain, heart, kidney, and whole eye, whereas expression was weak in the liver. Immunohistochemistry showed strong staining for ADAMTS17 in the spleen and testis, moderate staining in liver, kidney, placenta, and lymph node, and weak expression in heart, lung, colon, ovary, and uterine wall smooth muscle; there was no expression in pancreas or thyroid gland. Eye sections from mouse embryos showed diffuse expression of Adamts17 within the area of the future ciliary body.MAPPING
By genomic sequence analysis, Cal et al. (2002) mapped the ADAMTS17 gene to chromosome 15q24. Hartz (2009) mapped the ADAMTS17 gene to chromosome 15q26.3 based on an alignment of the ADAMTS17 sequence (GenBank GENBANK AA884550) with the genomic sequence (GRCh37).MOLECULAR GENETICS
In 4 affected sibs from a consanguineous Saudi Arabian family with a Weill-Marchesani-like syndrome (613195) mapping to chromosome 15q26.3, Morales et al. (2009) identified homozygosity for a 1-bp insertion in the ADAMTS17 gene (607511.0001) that fully segregated with the phenotype. Screening the ADAMTS17 gene in similar WMS-like patients identified a homozygous truncating mutation (607511.0002) in 2 affected sisters from another Saudi Arabian family, and a homozygous splice site mutation in a sporadic case (607511.0003). ... More on the omim web site
June 29, 2020: Protein entry updated
Automatic update: OMIM entry 607511 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).