PROSITE documentation PDOC00923Tub family signatures
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 [3] is involved in retinis pigmentosa 14 (RP14), a retinal degeneration disease.
- Human protein TULP2 [3].
- Mammalian protein TULP3 [4].
- Mouse protein p4-6 whose function is not known.
- 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 proteins.
Last update:December 2001 / Patterns and text revised.
-------------------------------------------------------------------------------
PROSITE methods (with tools and information) covered by this documentation:
1 | Authors | 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. |
Title | Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. | |
Source | Cell 85:281-290(1996). | |
PubMed ID | 8612280 |
2 | Authors | Noben-Trauth K. Naggert J.K. North M.A. Nishina P.M. |
Source | Nature 380:534-538(1996). |
3 | Authors | North M.A. Naggert J.K. Yan Y. Noben-Trauth K. Nishina P.M. |
Title | Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. | |
Source | Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997). | |
PubMed ID | 9096357 |
4 | Authors | Nishina P.M. North M.A. Ikeda A. Yan Y. Naggert J.K. |
Title | Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans. | |
Source | Genomics 54:215-220(1998). | |
PubMed ID | 9828123 |
PROSITE is copyrighted by the SIB Swiss Institute of Bioinformatics and distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives (CC BY-NC-ND 4.0) License, see prosite_license.html.
View entry in original PROSITE document format
View entry in raw text format (no links)