TULP1

Tubby like protein 1, also known as TULP1, is a human gene.cite web | title = Entrez Gene: TULP1 tubby like protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7287| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: TULP1 tubby like protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7287| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Powles TJ, Rosset G, Leese CL, Bondy PK |title=Early morning hydroxyproline excretion in patients with breast cancer. |journal=Cancer |volume=38 |issue= 6 |pages= 2564–6 |year= 1977 |pmid= 1000483 |doi=
*cite journal | author=Knowles JA, Shugart Y, Banerjee P, "et al." |title=Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. |journal=Hum. Mol. Genet. |volume=3 |issue= 8 |pages= 1401–3 |year= 1995 |pmid= 7987322 |doi=
*cite journal | author=North MA, Naggert JK, Yan Y, "et al." |title=Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 7 |pages= 3128–33 |year= 1997 |pmid= 9096357 |doi=
*cite journal | author=Hagstrom SA, North MA, Nishina PL, "et al." |title=Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. |journal=Nat. Genet. |volume=18 |issue= 2 |pages= 174–6 |year= 1998 |pmid= 9462750 |doi= 10.1038/ng0298-174
*cite journal | author=Banerjee P, Kleyn PW, Knowles JA, "et al." |title=TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. |journal=Nat. Genet. |volume=18 |issue= 2 |pages= 177–9 |year= 1998 |pmid= 9462751 |doi= 10.1038/ng0298-177
*cite journal | author=Banerjee P, Lewis CA, Kleyn PW, "et al." |title=Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. |journal=Genomics |volume=48 |issue= 2 |pages= 171–7 |year= 1998 |pmid= 9521870 |doi= 10.1006/geno.1997.5174
*cite journal | author=Gu S, Lennon A, Li Y, "et al." |title=Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. |journal=Lancet |volume=351 |issue= 9109 |pages= 1103–4 |year= 1998 |pmid= 9660588 |doi=
*cite journal | author=Lewis CA, Batlle IR, Batlle KG, "et al." |title=Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. |journal=Invest. Ophthalmol. Vis. Sci. |volume=40 |issue= 9 |pages= 2106–14 |year= 1999 |pmid= 10440267 |doi=
*cite journal | author=Hagstrom SA, Duyao M, North MA, Li T |title=Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix. |journal=Invest. Ophthalmol. Vis. Sci. |volume=40 |issue= 12 |pages= 2795–802 |year= 1999 |pmid= 10549638 |doi=
*cite journal | author=Ikeda S, Shiva N, Ikeda A, "et al." |title=Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. |journal=Hum. Mol. Genet. |volume=9 |issue= 2 |pages= 155–63 |year= 2000 |pmid= 10607826 |doi=
*cite journal | author=Hagstrom SA, Adamian M, Scimeca M, "et al." |title=A role for the Tubby-like protein 1 in rhodopsin transport. |journal=Invest. Ophthalmol. Vis. Sci. |volume=42 |issue= 9 |pages= 1955–62 |year= 2001 |pmid= 11481257 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Brandenberger R, Wei H, Zhang S, "et al." |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707–16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Kondo H, Qin M, Mizota A, "et al." |title=A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 12 |pages= 4433–9 |year= 2005 |pmid= 15557452 |doi= 10.1167/iovs.04-0544
*cite journal | author=Roni V, Carpio R, Wissinger B |title=Mapping of transcription start sites of human retina expressed genes. |journal=BMC Genomics |volume=8 |issue= |pages= 42 |year= 2007 |pmid= 17286855 |doi= 10.1186/1471-2164-8-42
*cite journal | author=den Hollander AI, van Lith-Verhoeven JJ, Arends ML, "et al." |title=Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. |journal=Arch. Ophthalmol. |volume=125 |issue= 7 |pages= 932–5 |year= 2007 |pmid= 17620573 |doi= 10.1001/archopht.125.7.932
*cite journal | author=Mataftsi A, Schorderet DF, Chachoua L, "et al." |title=Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue= 11 |pages= 5160–7 |year= 2007 |pmid= 17962469 |doi= 10.1167/iovs.06-1013

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