The mouse tubby mutation is the cause of maturity-onset obesity, insulin
resistance and sensory deficits. This mutation maps to a gene, tub [1,2],
which codes for a protein that belongs to a family which currently consists of
the following members:
Mammalian tub, an hydrophilic protein of about 500 residues, which could be
involved in the hypothalamic regulation of body weight.
Human protein TULP1  is involved in retinis pigmentosa 14 (RP14), a
retinal degeneration disease.
Caenorhabditis elegans hypothetical protein F10B5.4.
Several fragmentary sequences from plants, Drosophila and human ESTs.
While the N-terminal part of these protein is not conserved in length nor in
the sequence, the C-terminal 250 residues are highly conserved. We therefore
selected two regions in the C-terminal part as signature patterns. The second
region is located at the C-terminal extremity and contains a penultimate
cysteine residue that could be critical to the normal functioning of these
December 2001 / Patterns and text revised.
PROSITE methods (with tools and information) covered by this documentation:
Kleyn P.W. Fan W. Kovats S.G. Lee J.J. Pulido J.C. Wu Y. Berkemeier L.R. Misumi D.J. Holmgren L. Charlat O. Woolf E.A. Tayber O. Brody T. Shu P. Hawkins F. Kennedy B. Baldini L. Ebeling C. Alperin G.D. Deeds J. Lakey N.D. Culpepper J. Chen H. Glucksmann-Kuis M.A. Carlson G.A. Duyk G.M. Moore K.J.
Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family.
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