TULP1: Difference between revisions

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{{Infobox_gene}}
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'''Tubby-related protein 1''' is a [[protein]] that in humans is encoded by the ''TULP1'' [[gene]].<ref name="pmid9096357">{{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 }}</ref><ref name="pmid9521870">{{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 }}</ref><ref name="entrez">{{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 = }}</ref>
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{{GNF_Protein_box
| image = PBB_Protein_TULP1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2fim.
| PDB = {{PDB2|2fim}}
| Name = Tubby like protein 1
| HGNCid = 12423
| Symbol = TULP1
| AltSymbols =; RP14; TUBL1
| OMIM = 602280
| ECnumber =
| Homologene = 2491
| MGIid = 109571
| GeneAtlas_image1 = PBB_GE_TULP1_206705_at_tn.png
| Function = {{GNF_GO|id=GO:0008020 |text = G-protein coupled photoreceptor activity}}
  | Component =
| Process = {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0007602 |text = phototransduction}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7287
    | Hs_Ensembl = ENSG00000112041
    | Hs_RefseqProtein = NP_003313
    | Hs_RefseqmRNA = NM_003322
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 35573632
    | Hs_GenLoc_end = 35588643
    | Hs_Uniprot = O00294
    | Mm_EntrezGene = 22157
    | Mm_Ensembl = ENSMUSG00000037446
    | Mm_RefseqmRNA = NM_021478
    | Mm_RefseqProtein = NP_067453
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 28079105
    | Mm_GenLoc_end = 28092737
    | Mm_Uniprot = Q3TP89
  }}
}}
'''Tubby like protein 1''', also known as '''TULP1''', is a human [[gene]].<ref name="entrez">{{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 = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| 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.<ref name="entrez">{{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 = }}</ref>
| 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.<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| 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  | 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 | 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   |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  | 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   |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 | 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   |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 | 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   |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 | 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   |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  | 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  | 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 | 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   |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  | 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   |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 | 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   |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 | 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   |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 | 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   |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 | 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   |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 | 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  | 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 | 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   |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  | 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   |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 | 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  |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. |year= 2014 |pmid= 24547928 |doi= 10.3109/13816810.2014.886269 |pages=1–6}}
*{{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 }}
}}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=7287}}
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{{Ciliary proteins}}


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Latest revision as of 12:27, 15 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.[1][2][3]

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. ↑ 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. doi:10.1073/pnas.94.7.3128. PMC 20333. PMID 9096357.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: TULP1 tubby like protein 1".

Further reading



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