GeneID: 201



Names

Common Name: ADAMTSL1 Type: Gene
Chromosome: 9 (NC_000009.12) Locus: N/A
HUGO Symbol: ADAMTSL1 Full Name: ADAMTS like 1
Exons: 29 Introns: 28

Description:
This gene encodes a secreted protein and member of the ADAMTS (a disintegrin-like and metalloprotease with thrombospondin motif) family of proteases, which have important functions in the extracellular matrix (ECM). There are 19 ADAMTS genes, each composed of a protease domain attached to a non-catalytic (or ancillary) domain that contains one or more thrombospondin type 1 repeats (TSRs). The ancillary domain primarily functions to localise ADAMTS proteases to substrates, the cell suface or the ECM. The encoded protein is one of the 7 ADAMTS-like proteins (ADAMTSL1-6 and papilin), which resemble the non-catalytic domains of ADAMTS proteases and lack a protease domain. Alternative splicing results in multiple transcript variants encoding distinct proteins. Polymorphisms in this gene associated with HbF levels in individuals with sickle cell disease.

Synonyms: C9orf94 , PUNCTIN , ADAMTSR1 , ADAMTSL-1

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Hirohata S, Wang LW, Miyagi M, Yan L, Seldin MF, Keene DR, Crabb JW, Apte SS, Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix., J. Biol. Chem. , 277(14), 12182-9, 2002 PubMed
  2. Mtatiro SN, Singh T, Rooks H, Mgaya J, Mariki H, Soka D, Mmbando B, Msaki E, Kolder I, Thein SL, Menzel S, Cox SE, Makani J, Barrett JC, Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania., PLoS ONE , 9(11), e111464, 2014 PubMed
  3. Dubail J, Apte SS, Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics., Matrix Biol. , 44(0), 24-37, 2015 PubMed
Created on 2017-01-30 13:05:41, Last reviewed on (Show full history)


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