TULP1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.

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 (1977). "Early morning hydroxyproline excretion in patients with breast cancer". Cancer. 38 (6): 2564–6. doi:10.1002/1097-0142(197612)38:6<2564::AID-CNCR2820380648>3.0.CO;2-W. PMID 1000483.
• Knowles JA, Shugart Y, Banerjee P, et al. (1995). "Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p". Hum. Mol. Genet. 3 (8): 1401–3. doi:10.1093/hmg/3.8.1401. PMID 7987322.
• Hagstrom SA, North MA, Nishina PL, et al. (1998). "Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa". Nat. Genet. 18 (2): 174–6. doi:10.1038/ng0298-174. PMID 9462750.
• Banerjee P, Kleyn PW, Knowles JA, et al. (1998). "TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa". Nat. Genet. 18 (2): 177–9. doi:10.1038/ng0298-177. PMID 9462751.
• Gu S, Lennon A, Li Y, et al. (1998). "Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa". Lancet. 351 (9109): 1103–4. doi:10.1016/S0140-6736(05)79384-3. PMID 9660588.
• Lewis CA, Batlle IR, Batlle KG, et al. (1999). "Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration". Invest. Ophthalmol. Vis. Sci. 40 (9): 2106–14. PMID 10440267.
• Hagstrom SA, Duyao M, North MA, Li T (1999). "Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix". Invest. Ophthalmol. Vis. Sci. 40 (12): 2795–802. PMID 10549638.
• Ikeda S, Shiva N, Ikeda A, et al. (2000). "Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene". Hum. Mol. Genet. 9 (2): 155–63. doi:10.1093/hmg/9.2.155. PMID 10607826.
• Hagstrom SA, Adamian M, Scimeca M, et al. (2001). "A role for the Tubby-like protein 1 in rhodopsin transport". Invest. Ophthalmol. Vis. Sci. 42 (9): 1955–62. PMID 11481257.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Kondo H, Qin M, Mizota A, et al. (2005). "A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers". Invest. Ophthalmol. Vis. Sci. 45 (12): 4433–9. doi:10.1167/iovs.04-0544. PMID 15557452.
• Roni V, Carpio R, Wissinger B (2007). "Mapping of transcription start sites of human retina expressed genes". BMC Genomics. 8: 42. doi:10.1186/1471-2164-8-42. PMC 1802077. PMID 17286855.
• den Hollander AI, van Lith-Verhoeven JJ, Arends ML, et al. (2007). "Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa". Arch. Ophthalmol. 125 (7): 932–5. doi:10.1001/archopht.125.7.932. PMID 17620573.
• Mataftsi A, Schorderet DF, Chachoua L, et al. (2007). "Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration". Invest. Ophthalmol. Vis. Sci. 48 (11): 5160–7. doi:10.1167/iovs.06-1013. PMID 17962469.
• Guo Y, Prokudin I, Yu C, et al. (2014). "Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis". Ophthalmic Genet.: 1–6. doi:10.3109/13816810.2014.886269. PMID 24547928.