9kr7: Difference between revisions

Latest revision as of 07:23, 25 June 2025

human creatine transporter

Structural highlights

9kr7 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	Electron Microscopy, Resolution 3.29Å
Ligands:	CL
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

SC6A8_HUMAN X-linked creatine transporter deficiency. The disease is caused by variants affecting the gene represented in this entry.

Function

SC6A8_HUMAN Creatine:sodium symporter which mediates the uptake of creatine (PubMed:17465020, PubMed:22644605, PubMed:25861866, PubMed:7945388, PubMed:7953292, PubMed:9882430). Plays an important role in supplying creatine to the brain via the blood-brain barrier (By similarity).[UniProtKB:Q8VBW1]^[1] ^[2] ^[3] ^[4] ^[5] ^[6]

References

↑ Rosenberg EH, Martínez Muñoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat. 2007 Sep;28(9):890-6. PMID:17465020 doi:10.1002/humu.20532
↑ Valayannopoulos V, Bakouh N, Mazzuca M, Nonnenmacher L, Hubert L, Makaci FL, Chabli A, Salomons GS, Mellot-Draznieks C, Brulé E, de Lonlay P, Toulhoat H, Munnich A, Planelles G, de Keyzer Y. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. J Inherit Metab Dis. 2013 Jan;36(1):103-12. PMID:22644605 doi:10.1007/s10545-012-9495-9
↑ DesRoches CL, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S. Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. Gene. 2015 Jul 10;565(2):187-91. PMID:25861866 doi:10.1016/j.gene.2015.04.011
↑ Sora I, Richman J, Santoro G, Wei H, Wang Y, Vanderah T, Horvath R, Nguyen M, Waite S, Roeske WR, et al.. The cloning and expression of a human creatine transporter. Biochem Biophys Res Commun. 1994 Oct 14;204(1):419-27. PMID:7945388 doi:10.1006/bbrc.1994.2475
↑ Nash SR, Giros B, Kingsmore SF, Rochelle JM, Suter ST, Gregor P, Seldin MF, Caron MG. Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Recept Channels. 1994;2(2):165-74 PMID:7953292
↑ Dai W, Vinnakota S, Qian X, Kunze DL, Sarkar HK. Molecular characterization of the human CRT-1 creatine transporter expressed in Xenopus oocytes. Arch Biochem Biophys. 1999 Jan 1;361(1):75-84. PMID:9882430 doi:10.1006/abbi.1998.0959

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OCA

[1] Rosenberg EH, Martínez Muñoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat. 2007 Sep;28(9):890-6. PMID:17465020 doi:10.1002/humu.20532

[2] Valayannopoulos V, Bakouh N, Mazzuca M, Nonnenmacher L, Hubert L, Makaci FL, Chabli A, Salomons GS, Mellot-Draznieks C, Brulé E, de Lonlay P, Toulhoat H, Munnich A, Planelles G, de Keyzer Y. Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. J Inherit Metab Dis. 2013 Jan;36(1):103-12. PMID:22644605 doi:10.1007/s10545-012-9495-9

[3] DesRoches CL, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S. Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. Gene. 2015 Jul 10;565(2):187-91. PMID:25861866 doi:10.1016/j.gene.2015.04.011

[4] Sora I, Richman J, Santoro G, Wei H, Wang Y, Vanderah T, Horvath R, Nguyen M, Waite S, Roeske WR, et al.. The cloning and expression of a human creatine transporter. Biochem Biophys Res Commun. 1994 Oct 14;204(1):419-27. PMID:7945388 doi:10.1006/bbrc.1994.2475

[5] Nash SR, Giros B, Kingsmore SF, Rochelle JM, Suter ST, Gregor P, Seldin MF, Caron MG. Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. Recept Channels. 1994;2(2):165-74 PMID:7953292

[6] Dai W, Vinnakota S, Qian X, Kunze DL, Sarkar HK. Molecular characterization of the human CRT-1 creatine transporter expressed in Xenopus oocytes. Arch Biochem Biophys. 1999 Jan 1;361(1):75-84. PMID:9882430 doi:10.1006/abbi.1998.0959

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@@ Line 1: / Line 1: @@
-'''Unreleased structure'''
-The entry 9kr7 is ON HOLD  until Paper Publication
+==human creatine transporter==
+<StructureSection load='9kr7' size='340' side='right'caption='[[9kr7]], [[Resolution|resolution]] 3.29&Aring;' scene=''>
-Authors:
+== Structural highlights ==
+<table><tr><td colspan='2'>[[9kr7]] is a 1 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=9KR7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9KR7 FirstGlance]. <br>
-Description:
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.29&#8491;</td></tr>
-[[Category: Unreleased Structures]]
+<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene></td></tr>
+<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=9kr7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9kr7 OCA], [https://pdbe.org/9kr7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9kr7 RCSB], [https://www.ebi.ac.uk/pdbsum/9kr7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9kr7 ProSAT]</span></td></tr>
+</table>
+== Disease ==
+[https://www.uniprot.org/uniprot/SC6A8_HUMAN SC6A8_HUMAN] X-linked creatine transporter deficiency. The disease is caused by variants affecting the gene represented in this entry.
+== Function ==
+[https://www.uniprot.org/uniprot/SC6A8_HUMAN SC6A8_HUMAN] Creatine:sodium symporter which mediates the uptake of creatine (PubMed:17465020, PubMed:22644605, PubMed:25861866, PubMed:7945388, PubMed:7953292, PubMed:9882430). Plays an important role in supplying creatine to the brain via the blood-brain barrier (By similarity).[UniProtKB:Q8VBW1]<ref>PMID:17465020</ref> <ref>PMID:22644605</ref> <ref>PMID:25861866</ref> <ref>PMID:7945388</ref> <ref>PMID:7953292</ref> <ref>PMID:9882430</ref>
+== References ==
+<references/>
+__TOC__
+</StructureSection>
+[[Category: Homo sapiens]]
+[[Category: Large Structures]]
+[[Category: Chen JH]]
+[[Category: Ge JP]]
+[[Category: Yu J]]

9kr7: Difference between revisions

Latest revision as of 07:23, 25 June 2025

human creatine transporter

Structural highlights

Disease

Function

References

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Proteopedia Page Contributors and Editors (what is this?)

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