TULP1

TULP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2FIM, 3C5N
Identifiers
Aliases	TULP1, LCA15, RP14, TUBL1, tubby like protein 1, TUB like protein 1
External IDs	OMIM: 602280 MGI: 109571 HomoloGene: 2491 GeneCards: TULP1
Gene location (Human) Chr. Chromosome 6 (human) Band 6p21.31 Start 35,497,874 bp End 35,512,896 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17|17 A3.3 Start 28,570,489 bp End 28,584,196 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium sural nerve left uterine tube vagina prostate skin of abdomen smooth muscle tissue canal of the cervix ganglionic eminence right uterine tube Top expressed in retinal pigment epithelium pineal gland parotid gland submandibular gland corneal stroma lacrimal gland left lung lobe external carotid artery internal carotid artery saccule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding phosphatidylinositol-4,5-bisphosphate binding actin filament binding phosphatidylinositol binding Cellular component cytoplasm axon terminus cytosol cell projection membrane photoreceptor inner segment plasma membrane photoreceptor outer segment synapse cilium extracellular region cell junction Biological process positive regulation of phagocytosis response to stimulus dendrite development protein localization to photoreceptor outer segment detection of light stimulus involved in visual perception receptor localization to non-motile cilium retina homeostasis retina development in camera-type eye eye photoreceptor cell development phagocytosis phagocytosis, recognition photoreceptor cell maintenance vesicle-mediated transport visual perception protein localization to cilium Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7287 22157 Ensembl ENSG00000112041 ENSMUSG00000037446 UniProt O00294 Q9Z273 RefSeq (mRNA) NM_003322 NM_001289395 NM_021478 RefSeq (protein) NP_001276324 NP_003313 NP_067453 Location (UCSC) Chr 6: 35.5 – 35.51 Mb Chr 17: 28.57 – 28.58 Mb PubMed search
Wikidata
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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. S2CID 20216064.
• 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. S2CID 24795199.
• 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. S2CID 32189146.
• 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. S2CID 45416578.
• 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. Bibcode:2002PNAS...9916899M. 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. S2CID 27764390.
• 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. 36 (4): 1–6. doi:10.3109/13816810.2014.886269. PMID 24547928. S2CID 45133801.