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'''Unreleased structure'''


The entry 6dw3 is ON HOLD  until Paper Publication
==SAMHD1 Bound to Cytarabine-TP in the Catalytic Pocket==
 
<StructureSection load='6dw3' size='340' side='right' caption='[[6dw3]], [[Resolution|resolution]] 2.20&Aring;' scene=''>
Authors: Knecht, K.M., Buzovetsky, O., Schneider, C., Thomas, D., Srikanth, V., Kaderali, L., Tofoleanu, F., Reiss, K., Ferreiros, N., Geisslinger, G., Batista, V.S., Ji, X., Cinatl, J., Keppler, O.T., Xiong, Y.
== Structural highlights ==
 
<table><tr><td colspan='2'>[[6dw3]] is a 4 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6DW3 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6DW3 FirstGlance]. <br>
Description: SAMHD1 Bound to Cytarabine-TP in the Catalytic Pocket
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=DTP:2-DEOXYADENOSINE+5-TRIPHOSPHATE'>DTP</scene>, <scene name='pdbligand=GTP:GUANOSINE-5-TRIPHOSPHATE'>GTP</scene>, <scene name='pdbligand=HF4:4-amino-1-{5-O-[(S)-hydroxy{[(R)-hydroxy(phosphonooxy)phosphoryl]oxy}phosphoryl]-beta-D-arabinofuranosyl}pyrimidin-2(1H)-one'>HF4</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>
[[Category: Unreleased Structures]]
<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=6dw3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6dw3 OCA], [http://pdbe.org/6dw3 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6dw3 RCSB], [http://www.ebi.ac.uk/pdbsum/6dw3 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6dw3 ProSAT]</span></td></tr>
[[Category: Tofoleanu, F]]
</table>
[[Category: Xiong, Y]]
== Disease ==
[[Category: Keppler, O.T]]
[[http://www.uniprot.org/uniprot/SAMH1_HUMAN SAMH1_HUMAN]] Defects in SAMHD1 are the cause of Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:[http://omim.org/entry/612952 612952]]. A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.<ref>PMID:19525956</ref> <ref>PMID:20842748</ref>  Defects in SAMHD1 are the cause of chilblain lupus type 2 (CHBL2) [MIM:[http://omim.org/entry/614415 614415]]. A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade.<ref>PMID:21204240</ref> 
[[Category: Batista, V.S]]
== Function ==
[[http://www.uniprot.org/uniprot/SAMH1_HUMAN SAMH1_HUMAN]] Putative nuclease involved in innate immune response by acting as a negative regulator of the cell-intrinsic antiviral response. May play a role in mediating proinflammatory responses to TNF-alpha signaling.<ref>PMID:18546154</ref> <ref>PMID:19525956</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Batista, V S]]
[[Category: Buzovetsky, O]]
[[Category: Cinatl, J]]
[[Category: Ferreiros, N]]
[[Category: Geisslinger, G]]
[[Category: Ji, X]]
[[Category: Kaderali, L]]
[[Category: Keppler, O T]]
[[Category: Knecht, K M]]
[[Category: Reiss, K]]
[[Category: Reiss, K]]
[[Category: Kaderali, L]]
[[Category: Schneider, C]]
[[Category: Schneider, C]]
[[Category: Ji, X]]
[[Category: Srikanth, V]]
[[Category: Geisslinger, G]]
[[Category: Ferreiros, N]]
[[Category: Thomas, D]]
[[Category: Thomas, D]]
[[Category: Cinatl, J]]
[[Category: Tofoleanu, F]]
[[Category: Srikanth, V]]
[[Category: Xiong, Y]]
[[Category: Buzovetsky, O]]
[[Category: Complex]]
[[Category: Knecht, K.M]]
[[Category: Cytarabine-tp]]
[[Category: Deoxynucleoside triphosphate triphosphohydrolase]]
[[Category: Dntpase]]
[[Category: Hydrolase]]
[[Category: Hydrolase inhibitor]]
[[Category: Hydrolase-hydrolase inhibitor complex]]
[[Category: Nucleotide analogue]]

Revision as of 11:06, 10 October 2018

SAMHD1 Bound to Cytarabine-TP in the Catalytic PocketSAMHD1 Bound to Cytarabine-TP in the Catalytic Pocket

Structural highlights

6dw3 is a 4 chain structure. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:, , ,
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

[SAMH1_HUMAN] Defects in SAMHD1 are the cause of Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]. A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.[1] [2] Defects in SAMHD1 are the cause of chilblain lupus type 2 (CHBL2) [MIM:614415]. A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade.[3]

Function

[SAMH1_HUMAN] Putative nuclease involved in innate immune response by acting as a negative regulator of the cell-intrinsic antiviral response. May play a role in mediating proinflammatory responses to TNF-alpha signaling.[4] [5]

References

  1. ↑ Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14. PMID:19525956 doi:10.1038/ng.373
  2. ↑ Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nurnberg G, Frosch M, Kurlemann G, Roth J, Nurnberg P, Rutsch F. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. 2010 Nov;31(11):E1836-50. doi: 10.1002/humu.21357. PMID:20842748 doi:10.1002/humu.21357
  3. ↑ Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A. 2011 Jan;155A(1):235-7. doi: 10.1002/ajmg.a.33778. PMID:21204240 doi:10.1002/ajmg.a.33778
  4. ↑ Liao W, Bao Z, Cheng C, Mok YK, Wong WS. Dendritic cell-derived interferon-gamma-induced protein mediates tumor necrosis factor-alpha stimulation of human lung fibroblasts. Proteomics. 2008 Jul;8(13):2640-50. doi: 10.1002/pmic.200700954. PMID:18546154 doi:10.1002/pmic.200700954
  5. ↑ Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14. PMID:19525956 doi:10.1038/ng.373

6dw3, resolution 2.20Å

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