“TULP1”的意思、由来-开放百科全书

　

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TULP1

释义

References
Further reading

{{Underlinked|date=June 2016}}{{Infobox_gene}}Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.^[1]^[2]^[3]{{PBB_Summary
| section_title =
| 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.^[3]
}}

References

1. ^{{cite journal | vauthors = North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM | 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 |date=May 1997 | pmid = 9096357 | pmc = 20333 | doi =10.1073/pnas.94.7.3128 }}
2. ^{{cite journal | vauthors = Banerjee P, Lewis CA, Kleyn PW, Shugart YY, Ross BM, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC, Knowles JA | 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 |date=Jun 1998 | pmid = 9521870 | pmc = | doi = 10.1006/geno.1997.5174 }}
3. ^¹{{cite web | title = Entrez Gene: TULP1 tubby like protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7287| accessdate = }}

Further reading

{{refbegin | 2}}

{{cite journal | vauthors=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=10.1002/1097-0142(197612)38:6<2564::AID-CNCR2820380648>3.0.CO;2-W }}
{{cite journal |vauthors=Knowles JA, Shugart Y, Banerjee P, etal |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=10.1093/hmg/3.8.1401 }}
{{cite journal |vauthors=Hagstrom SA, North MA, Nishina PL, etal |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 |vauthors=Banerjee P, Kleyn PW, Knowles JA, etal |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 |vauthors=Gu S, Lennon A, Li Y, etal |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=10.1016/S0140-6736(05)79384-3 }}
{{cite journal |vauthors=Lewis CA, Batlle IR, Batlle KG, etal |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 | vauthors=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 |vauthors=Ikeda S, Shiva N, Ikeda A, etal |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=10.1093/hmg/9.2.155 }}
{{cite journal |vauthors=Hagstrom SA, Adamian M, Scimeca M, etal |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 |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 | pmc=139241 }}
{{cite journal |vauthors=Brandenberger R, Wei H, Zhang S, etal |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 |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |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 | pmc=528928 }}
{{cite journal |vauthors=Kondo H, Qin M, Mizota A, etal |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 | vauthors=Roni V, Carpio R, Wissinger B |title=Mapping of transcription start sites of human retina expressed genes. |journal=BMC Genomics |volume=8|pages= 42 |year= 2007 |pmid= 17286855 |doi= 10.1186/1471-2164-8-42 | pmc=1802077 }}
{{cite journal |vauthors=den Hollander AI, van Lith-Verhoeven JJ, Arends ML, etal |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 |vauthors=Mataftsi A, Schorderet DF, Chachoua L, etal |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 }}
{{cite journal |vauthors=Guo Y, Prokudin I, Yu C, etal |title=Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. |journal=Ophthalmic Genet. |volume=36 |issue=4 |year= 2014 |pmid= 24547928 |doi= 10.3109/13816810.2014.886269 |pages=1–6}}

{{refend}}{{PDB Gallery|geneid=7287}}{{Ciliary proteins}}{{gene-6-stub}}

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