GeneID: 187


Common Name: PAPLN Type: Gene
Chromosome: 14 (NC_000014.9) Locus: N/A
HUGO Symbol: PAPLN Full Name: papilin, proteoglycan like sulfated glycoprotein
Exons: 26 Introns: 25

The PAPLN gene encodes papilin, a sulfated and heavily glycosylated glycoprotein that was first isolated from the culture media of Drosophila Kc cells. It was found in basement membranes of Drosophila embryos and larvae. Similar to vertebrate proteoglycans, papilin consists of a core protein and O-linked glycosaminoglycan chains. However, papillin contains little, if any, heparan sulfate, and most or all of its O-linked sugar chains are relatively short. There are about 80 O-linked sugar chains per core protein molecule. The glycoprotein is resistant to chemical treatment, which is consistent with a protein core protected by many glycosaminoglycan chains. It probably confers protection against phagocytic attack by hemocytes. Pepilin shares a set of protein domains with the ADAMTS family of secreted matrix-associated metalloproteinases, which are essential for organogenesis. While no information is currently available on the human homologue of this protein, polymoprhisms in this gene associated with HbF response to hydroxyurea in patients with sickle cell disease.

Synonyms: MGC50452


Number of entries/variants: 1


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Publications / Origin

  1. Campbell AG, Fessler LI, Salo T, Fessler JH, Papilin: a Drosophila proteoglycan-like sulfated glycoprotein from basement membranes., J. Biol. Chem. , 262(36), 17605-12, 1987 PubMed
  2. Kramerova IA, Kawaguchi N, Fessler LI, Nelson RE, Chen Y, Kramerov AA, Kusche-Gullberg M, Kramer JM, Ackley BD, Sieron AL, Prockop DJ, Fessler JH, Papilin in development; a pericellular protein with a homology to the ADAMTS metalloproteinases., Development , 127(24), 5475-85, 2000 PubMed
  3. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
Created on 2016-10-18 11:41:03, Last reviewed on (Show full history)

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