2fim: Difference between revisions

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~~[[Image:2fim.png|left|200px]]~~

===Structure of the C-terminal domain of Human Tubby-like protein 1===

===~~Structure~~ of the ~~C-terminal domain~~ of ~~Human Tubby~~-~~like protein 1===~~

==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>

==About this Structure==

[[2fim]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2FIM OCA].

==Reference==

[[Category: Homo sapiens]]

[[Category: Arrowsmith, C.]]

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-[[Image:2fim.png|left|200px]]
 {{STRUCTURE_2fim|  PDB=2fim  |  SCENE=  }}
+===Structure of the C-terminal domain of Human Tubby-like protein 1===
-===Structure of the C-terminal domain of Human Tubby-like protein 1===
+==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>
 ==About this Structure==
 [[2fim]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2FIM OCA].
+==Reference==
+<references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Arrowsmith, C.]]