ADAMTSL1

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

AliasesADAMTSL1, ADAMTSL-1, ADAMTSR1, C9orf94, PUNCTIN, ADAMTS like 1

External IDsOMIM: 609198; MGI: 1924989; GeneCards: ADAMTSL1

Chr.Chromosome 9 (human)^[1]

End18,910,950 bp^[1]

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ADAMTSL1
Identifiers
Aliases	ADAMTSL1, ADAMTSL-1, ADAMTSR1, C9orf94, PUNCTIN, ADAMTS like 1
External IDs	OMIM: 609198; MGI: 1924989; 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 85,432,409 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 Databases NCBI: entry; OMA: entry 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]
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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]