View source for 2fim

==Structure of the C-terminal domain of Human Tubby-like protein 1==
<StructureSection load='2fim' size='340' side='right' caption='[[2fim]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[2fim]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2FIM OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2FIM FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=3DP:3-(N,N-DIMETHYLOCTYLAMMONIO)PROPANESULFONATE'>3DP</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2fim FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2fim OCA], [http://pdbe.org/2fim PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2fim RCSB], [http://www.ebi.ac.uk/pdbsum/2fim PDBsum]</span></td></tr>
</table>
== Disease ==
[[http://www.uniprot.org/uniprot/TULP1_HUMAN TULP1_HUMAN]] Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14) [MIM:[http://omim.org/entry/600132 600132]]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP14 inheritance is autosomal recessive.<ref>PMID:19837063</ref> <ref>PMID:9660588</ref> <ref>PMID:9462750</ref> <ref>PMID:15557452</ref> <ref>PMID:17620573</ref>   Defects in TULP1 are the cause of Leber congenital amaurosis type 15 (LCA15) [MIM:[http://omim.org/entry/613843 613843]]. LCA15 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.<ref>PMID:15024725</ref> <ref>PMID:17962469</ref>  
== Function ==
[[http://www.uniprot.org/uniprot/TULP1_HUMAN TULP1_HUMAN]] Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.<ref>PMID:16303976</ref> <ref>PMID:19837063</ref>  
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/fi/2fim_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
    <text>to colour the structure by Evolutionary Conservation</text>
  </jmolCheckbox>
</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Human]]
[[Category: Arrowsmith, C]]
[[Category: Berg, S Van Den]]
[[Category: Berglund, H]]
[[Category: Edwards, A]]
[[Category: Ehn, M]]
[[Category: Flodin, S]]
[[Category: Graslund, S]]
[[Category: Hallberg, B M]]
[[Category: Hammarstrom, M]]
[[Category: Hogbom, M]]
[[Category: Holmberg-Schiavone, L]]
[[Category: Kotenyova, T]]
[[Category: Kursula, P]]
[[Category: Nilsson-Ehle, P]]
[[Category: Nordlund, P]]
[[Category: Nyman, T]]
[[Category: Ogg, D]]
[[Category: Persson, C]]
[[Category: Sagemark, J]]
[[Category: Stenmark, P]]
[[Category: Sundstrom, M]]
[[Category: Thorsell, A G]]
[[Category: Weigelt, J]]
[[Category: 12-stranded-beta-barrel]]
[[Category: Beta-barrel]]
[[Category: Blindness]]
[[Category: Filled-beta-roll]]
[[Category: Helix-filled-barrel]]
[[Category: Retinitis pigmentosa]]
[[Category: Signaling protein]]
[[Category: Structural genomic]]
[[Category: Tubby filled-barrel]]