TULP1 explained
Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.[1] [2] [3]
TULP1 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates.
The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. TULP1 is a candidate gene for retinitis pigmentosa-14 (RP). Mutation in TULP1 is a rare cause of recessive RP and TULP1 plays an essential role in the physiology of photoreceptors.
Further reading
- Powles TJ, Rosset G, Leese CL, Bondy PK . Early morning hydroxyproline excretion in patients with breast cancer. . Cancer . 38 . 6 . 2564–6 . 1977 . 1000483 . 10.1002/1097-0142(197612)38:6<2564::AID-CNCR2820380648>3.0.CO;2-W . 20216064 .
- Knowles JA, Shugart Y, Banerjee P, etal . Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. . Hum. Mol. Genet. . 3 . 8 . 1401–3 . 1995 . 7987322 . 10.1093/hmg/3.8.1401 .
- Hagstrom SA, North MA, Nishina PL, etal . Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. . Nat. Genet. . 18 . 2 . 174–6 . 1998 . 9462750 . 10.1038/ng0298-174 . 24795199 .
- Banerjee P, Kleyn PW, Knowles JA, etal . TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. . Nat. Genet. . 18 . 2 . 177–9 . 1998 . 9462751 . 10.1038/ng0298-177 . 32189146 .
- Gu S, Lennon A, Li Y, etal . Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. . Lancet . 351 . 9109 . 1103–4 . 1998 . 9660588 . 10.1016/S0140-6736(05)79384-3 . 45416578 .
- Lewis CA, Batlle IR, Batlle KG, etal . Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. . Invest. Ophthalmol. Vis. Sci. . 40 . 9 . 2106–14 . 1999 . 10440267 .
- Hagstrom SA, Duyao M, North MA, Li T . Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix. . Invest. Ophthalmol. Vis. Sci. . 40 . 12 . 2795–802 . 1999 . 10549638 .
- Ikeda S, Shiva N, Ikeda A, etal . Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. . Hum. Mol. Genet. . 9 . 2 . 155–63 . 2000 . 10607826 . 10.1093/hmg/9.2.155 . free .
- Hagstrom SA, Adamian M, Scimeca M, etal . A role for the Tubby-like protein 1 in rhodopsin transport. . Invest. Ophthalmol. Vis. Sci. . 42 . 9 . 1955–62 . 2001 . 11481257 .
- Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Brandenberger R, Wei H, Zhang S, etal . Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. . Nat. Biotechnol. . 22 . 6 . 707–16 . 2005 . 15146197 . 10.1038/nbt971 . 27764390 .
- Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
- Kondo H, Qin M, Mizota A, etal . A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. . Invest. Ophthalmol. Vis. Sci. . 45 . 12 . 4433–9 . 2005 . 15557452 . 10.1167/iovs.04-0544 . free .
- Roni V, Carpio R, Wissinger B . Mapping of transcription start sites of human retina expressed genes. . BMC Genomics . 8. 42 . 2007 . 17286855 . 10.1186/1471-2164-8-42 . 1802077 . free .
- den Hollander AI, van Lith-Verhoeven JJ, Arends ML, etal . Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. . Arch. Ophthalmol. . 125 . 7 . 932–5 . 2007 . 17620573 . 10.1001/archopht.125.7.932 . free .
- Mataftsi A, Schorderet DF, Chachoua L, etal . Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. . Invest. Ophthalmol. Vis. Sci. . 48 . 11 . 5160–7 . 2007 . 17962469 . 10.1167/iovs.06-1013 . free .
- Guo Y, Prokudin I, Yu C, etal . Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. . Ophthalmic Genet. . 36 . 4 . 2014 . 24547928 . 10.3109/13816810.2014.886269 . 1–6. 45133801 .
Notes and References
- North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM . 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 . 7 . 3128–33 . May 1997 . 9096357 . 20333 . 10.1073/pnas.94.7.3128 . 1997PNAS...94.3128N . free .
- Banerjee P, Lewis CA, Kleyn PW, Shugart YY, Ross BM, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC, Knowles JA . Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3 . Genomics . 48 . 2 . 171–7 . Jun 1998 . 9521870 . 10.1006/geno.1997.5174 . free .
- Web site: Entrez Gene: TULP1 tubby like protein 1.