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; OMA:TULP1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p21.31 Start 35,497,874 bp [1] End 35,512,896 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 A3.3 Start 28,570,489 bp [2] End 28,584,196 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad retinal pigment epithelium sural nerve ventricular zone left uterine tube body of uterus vagina ectocervix skin of leg prostate Top expressed in neural layer of retina retinal pigment epithelium pineal gland epithelium of lens parotid gland submandibular gland corneal stroma otic vesicle lacrimal gland left lung lobe 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene. ^{[5] [6] [7]}

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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000112041 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037446 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM (May 1997). "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. Bibcode:1997PNAS...94.3128N. doi: 10.1073/pnas.94.7.3128 . PMC   20333 . PMID   9096357.
6. Banerjee P, Lewis CA, Kleyn PW, Shugart YY, Ross BM, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC, Knowles JA (Jun 1998). "Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3". Genomics. 48 (2): 171–7. doi: 10.1006/geno.1997.5174 . PMID   9521870.
7. "Entrez Gene: TULP1 tubby like protein 1".

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.