ADAMTSL1

ADAMTSL1
Identifiers
Aliases	ADAMTSL1 , ADAMTSL-1, ADAMTSR1, C9orf94, PUNCTIN, ADAMTS like 1
External IDs	OMIM: 609198; MGI: 1924989; HomoloGene: 64642; GeneCards: ADAMTSL1; OMA:ADAMTSL1 - orthologs
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 85,432,409 bp [2] End 86,346,622 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve Descending thoracic aorta ascending aorta body of uterus smooth muscle tissue testicle left uterine tube left adrenal cortex myometrium right adrenal cortex Top expressed in zygote lumbar subsegment of spinal cord otolith organ sciatic nerve secondary oocyte utricle primary oocyte efferent ductule calvaria umbilical cord More reference expression data BioGPS 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: 85.43 – 86.35 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2004Natur.429..369H. 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 .