1jlj
From Proteopedia
(Difference between revisions)
| Line 1: | Line 1: | ||
| - | {{Seed}} | ||
| - | [[Image:1jlj.png|left|200px]] | ||
| - | |||
| - | <!-- | ||
| - | The line below this paragraph, containing "STRUCTURE_1jlj", creates the "Structure Box" on the page. | ||
| - | You may change the PDB parameter (which sets the PDB file loaded into the applet) | ||
| - | or the SCENE parameter (which sets the initial scene displayed when the page is loaded), | ||
| - | or leave the SCENE parameter empty for the default display. | ||
| - | --> | ||
{{STRUCTURE_1jlj| PDB=1jlj | SCENE= }} | {{STRUCTURE_1jlj| PDB=1jlj | SCENE= }} | ||
| - | |||
===1.6 Angstrom crystal structure of the human neuroreceptor anchoring and molybdenum cofactor biosynthesis protein gephyrin=== | ===1.6 Angstrom crystal structure of the human neuroreceptor anchoring and molybdenum cofactor biosynthesis protein gephyrin=== | ||
| + | {{ABSTRACT_PUBMED_11554796}} | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/GEPH_HUMAN GEPH_HUMAN]] Defects in GPHN are the cause of molybdenum cofactor deficiency type C (MOCOD type C) [MIM:[http://omim.org/entry/252150 252150]]. MOCOD type C is an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood death.<ref>PMID:11095995</ref> | ||
| - | + | ==Function== | |
| - | + | [[http://www.uniprot.org/uniprot/GEPH_HUMAN GEPH_HUMAN]] Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. | |
| - | + | ||
| - | + | ||
| - | + | ||
==About this Structure== | ==About this Structure== | ||
| - | + | [[1jlj]] is a 3 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=1JLJ OCA]. | |
==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID: | + | <ref group="xtra">PMID:011554796</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hecht, H J.]] | [[Category: Hecht, H J.]] | ||
| Line 31: | Line 21: | ||
[[Category: Schwarz, G.]] | [[Category: Schwarz, G.]] | ||
[[Category: Globular alpha/beta fold]] | [[Category: Globular alpha/beta fold]] | ||
| - | + | [[Category: Structural protein]] | |
| - | + | ||
Revision as of 01:40, 25 March 2013
Contents |
1.6 Angstrom crystal structure of the human neuroreceptor anchoring and molybdenum cofactor biosynthesis protein gephyrin
Template:ABSTRACT PUBMED 11554796
Disease
[GEPH_HUMAN] Defects in GPHN are the cause of molybdenum cofactor deficiency type C (MOCOD type C) [MIM:252150]. MOCOD type C is an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood death.[1]
Function
[GEPH_HUMAN] Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.
About this Structure
1jlj is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Schwarz G, Schrader N, Mendel RR, Hecht HJ, Schindelin H. Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications. J Mol Biol. 2001 Sep 14;312(2):405-18. PMID:11554796 doi:10.1006/jmbi.2001.4952
- ↑ Reiss J, Gross-Hardt S, Christensen E, Schmidt P, Mendel RR, Schwarz G. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am J Hum Genet. 2001 Jan;68(1):208-13. Epub 2000 Nov 28. PMID:11095995 doi:10.1086/316941
