OCA at 10:27, 15 February 2023

2023-02-15T10:27:30Z

←Older revision		Revision as of 10:27, 15 February 2023
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-	'''Unreleased structure'''

-	~~The entry~~ 8dbg is ~~ON HOLD~~ ~~until Paper Publication~~	+	==Human PRPS1 with Phosphate and ATP; Hexamer==
-		+	<StructureSection load='8dbg' size='340' side='right'caption='[[8dbg]], [[Resolution\|resolution]] 2.20Å' scene=''>
-	~~Authors~~:	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[8dbg]] is a 6 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8DBG OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8DBG FirstGlance]. <br>
-	~~Description~~:	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ATP:ADENOSINE-5-TRIPHOSPHATE'>ATP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene>, <scene name='pdbligand=PO4:PHOSPHATE+ION'>PO4</scene></td></tr>
-	[[Category: ~~Unreleased~~ Structures]]	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8dbg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8dbg OCA], [https://pdbe.org/8dbg PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8dbg RCSB], [https://www.ebi.ac.uk/pdbsum/8dbg PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8dbg ProSAT]</span></td></tr>
		+	</table>
		+	== Disease ==
		+	[https://www.uniprot.org/uniprot/PRPS1_HUMAN PRPS1_HUMAN] Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:[https://omim.org/entry/300661 300661]; also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:[https://omim.org/entry/311070 311070]; also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.<ref>PMID:17701900</ref> Defects in PRPS1 are the cause of ARTS syndrome (ARTS) [MIM:[https://omim.org/entry/301835 301835]; also known as fatal ataxia X-linked with deafness and loss of vision. ARTS is a disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.<ref>PMID:17701896</ref> Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1) [MIM:[https://omim.org/entry/304500 304500]; also known as congenital sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss.<ref>PMID:20021999</ref>
		+	== Function ==
		+	[https://www.uniprot.org/uniprot/PRPS1_HUMAN PRPS1_HUMAN] Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
		+	[[Category: Homo sapiens]]
		+	[[Category: Large Structures]]
		+	[[Category: Hvorecny KL]]
		+	[[Category: Kollman JM]]

OCA at 17:04, 19 October 2022

2022-10-19T17:04:43Z

←Older revision		Revision as of 17:04, 19 October 2022
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	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 8dbg is ON HOLD	+	The entry 8dbg is ON HOLD until Paper Publication

	Authors:		Authors:

OCA at 05:43, 14 September 2022

2022-09-14T05:43:14Z

←Older revision		Revision as of 05:43, 14 September 2022
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	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 8dbg is ON HOLD ~~until Paper Publication~~	+	The entry 8dbg is ON HOLD

	Authors:		Authors:

OCA at 04:24, 20 July 2022

2022-07-20T04:24:37Z

←Older revision		Revision as of 04:24, 20 July 2022
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	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 8dbg is ON HOLD	+	The entry 8dbg is ON HOLD until Paper Publication

	Authors:		Authors:

OCA: Protected "8dbg" [edit=sysop:move=sysop]

2022-06-22T07:29:33Z

Protected "8dbg" [edit=sysop:move=sysop]

←Older revision

Revision as of 07:29, 22 June 2022

OCA: New page: '''Unreleased structure''' The entry 8dbg is ON HOLD Authors: Description: Category: Unreleased Structures

2022-06-22T07:29:31Z

New page: '''Unreleased structure''' The entry 8dbg is ON HOLD Authors: Description: Category: Unreleased Structures

New page