{PDOC00923} {PS01200; TUB_1} {PS01201; TUB_2} {BEGIN} ************************* * Tub 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. -Consensus pattern: F-[KRHQ]-G-R-V-[ST]-x-A-S-V-K-N-F-Q -Sequences known to belong to this class detected by the pattern: ALL. -Other sequence(s) detected in Swiss-Prot: NONE. -Consensus pattern: A-F-[AG]-I-[GSAC]-[LIVM]-[ST]-S-F-x-[GST]-K-x-A-C-E -Sequences known to belong to this class detected by the pattern: ALL, except for TULP2. -Other sequence(s) detected in Swiss-Prot: NONE. -Last update: December 2001 / Patterns and text revised. [ 1] 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." Cell 85:281-290(1996). PubMed=8612280 [ 2] Noben-Trauth K., Naggert J.K., North M.A., Nishina P.M. Nature 380:534-538(1996). [ 3] North M.A., Naggert J.K., Yan Y., Noben-Trauth K., Nishina P.M. "Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases." Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997). PubMed=9096357 [ 4] Nishina P.M., North M.A., Ikeda A., Yan Y., Naggert J.K. "Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans." Genomics 54:215-220(1998). PubMed=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 https://prosite.expasy.org/prosite_license.html -------------------------------------------------------------------------------- {END}