ADAMTSL1

Protein-coding gene in the species Homo sapiens
ADAMTSL1
Identifiers
AliasesADAMTSL1, ADAMTSL-1, ADAMTSR1, C9orf94, PUNCTIN, ADAMTS like 1
External IDsOMIM: 609198; MGI: 1924989; HomoloGene: 64642; GeneCards: ADAMTSL1; OMA:ADAMTSL1 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for ADAMTSL1
Genomic location for ADAMTSL1
Band9p22.2-p22.1Start17,906,563 bp[1]
End18,910,950 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for ADAMTSL1
Genomic location for ADAMTSL1
Band4|4 C4Start85,432,409 bp[2]
End86,346,622 bp[2]
RNA expression pattern
Bgee
HumanMouse (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

  • belly 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
SpeciesHumanMouse
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 MbChr 4: 85.43 – 86.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000178031 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


  • v
  • t
  • e