PF02487

CLN3 protein

Pfam entry
Member databasePfam
Pfam typefamily
Short nameCLN3
ClanMFS
Author Mian N;0000-0003-4284-4749 Bateman A;0000-0002-6982-4660
Sequence Ontology0100021

Description

This is a family of proteins from the CLN3 gene. A mis-sense mutation of glutamic acid (E) to lysine (K) at position 295 in the human protein (Swiss:Q13286) has been implicated in Juvenile neuronal ceroid lipofuscinosis (Batten disease)
[3]
. Batten disease is characterised by the accumulation of autofluorescent material in the lysosomes of most cells. Members of this family are transmembrane proteins functional in pre-vacuolar compartments. The protein in Sch.pombe is found to be localised to the vacuolar membrane, and a lack of functional protein clearly affects the size and pH of the vacuole. Thus the protein is necessary for vacuolar homeostasis
[1]
. It is important for localisation of late endosomal/lysosomal compartments, and it interacts with motor components driving both plus and minus end microtubular trafficking: tubulin, dynactin, dynein and kinesin-2
[2]
.

References

1.btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. Gachet Y, Codlin S, Hyams JS, Mole SE. J Cell Sci 118, 5525-36, (2005). PMID: 16291725

2.Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. Uusi-Rauva K, Kyttala A, van der Kant R, Vesa J, Tanhuanpaa K, Neefjes J, Olkkonen VM, Jalanko A. Cell Mol Life Sci 69, 2075-89, (2012). PMID: 22261744

3.Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. Zhong N, Wisniewski KE, Kaczmarski AL, Ju W, Xu WM, Xu WW, Mclendon L, Liu B, Kaczmarski W, Sklower Brooks SS, Brown WT. Hum. Genet. 102, 57-62, (1998). View articlePMID: 9490299

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