ADAMTSL1

ADAMTS-like protein 1 is a protein that in humans is encoded by the ADAMTSL1 gene.[5][6][7]

ADAMTSL1
Identifiers
Aliases	ADAMTSL1, ADAMTSL-1, ADAMTSR1, C9orf94, PUNCTIN, ADAMTS like 1
External IDs	OMIM: 609198 MGI: 1924989 HomoloGene: 64642 GeneCards: ADAMTSL1
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9p22.2-p22.1 Start 17,906,563 bp[1] End 18,910,950 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 C4 Start 85,514,172 bp[2] End 86,428,385 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • peptidase activity • hydrolase activity Cellular component • extracellular region • endoplasmic reticulum lumen Biological process • proteolysis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	92949	77739
Ensembl	ENSG00000178031	ENSMUSG00000066113
UniProt	Q8N6G6	Q8BLI0
RefSeq (mRNA)	NM_001040272 NM_052866 NM_139238 NM_139264	NM_029967 NM_172542 NM_001368621
RefSeq (protein)	NP_001035362 NP_443098	NP_084243 NP_001355550
Location (UCSC)	Chr 9: 17.91 – 18.91 Mb	Chr 4: 85.51 – 86.43 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a secreted protein resembling members of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the propeptide region and the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000178031 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000066113 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Aug 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
6. Hirohata S, Wang LW, Miyagi M, Yan L, Seldin MF, Keene DR, Crabb JW, Apte SS (Apr 2002). "Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix". J Biol Chem. 277 (14): 12182–9. doi:10.1074/jbc.M109665200. PMID 11805097.
7. "Entrez Gene: ADAMTSL1 ADAMTS-like 1".

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
• Hall NG, Klenotic P, Anand-Apte B, Apte SS (2004). "ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases". Matrix Biol. 22 (6): 501–10. doi:10.1016/S0945-053X(03)00075-1. PMID 14667842.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Wang LW, Dlugosz M, Somerville RP, et al. (2007). "O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily". J. Biol. Chem. 282 (23): 17024–31. doi:10.1074/jbc.M701065200. PMID 17395588.

External links

• Human ADAMTSL1 genome location and ADAMTSL1 gene details page in the UCSC Genome Browser.