3s4y
From Proteopedia
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{{STRUCTURE_3s4y| PDB=3s4y | SCENE= }} | {{STRUCTURE_3s4y| PDB=3s4y | SCENE= }} | ||
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===Crystal structure of human thiamin pyrophosphokinase 1=== | ===Crystal structure of human thiamin pyrophosphokinase 1=== | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/TPK1_HUMAN TPK1_HUMAN]] Childhood encephalopathy due to thiamine pyrophosphokinase deficiency. Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:[http://omim.org/entry/614458 614458]]: An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:22152682</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/TPK1_HUMAN TPK1_HUMAN]] Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.<ref>PMID:11342111</ref> | ||
==About this Structure== | ==About this Structure== | ||
[[3s4y]] 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=3S4Y OCA]. | [[3s4y]] 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=3S4Y OCA]. | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Thiamine diphosphokinase]] | [[Category: Thiamine diphosphokinase]] | ||
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[[Category: Walker, J R.]] | [[Category: Walker, J R.]] | ||
[[Category: Weigelt, J.]] | [[Category: Weigelt, J.]] | ||
| + | [[Category: Kinase]] | ||
| + | [[Category: Sgc]] | ||
| + | [[Category: Structural genomic]] | ||
| + | [[Category: Structural genomics consortium]] | ||
| + | [[Category: Transferase]] | ||
Revision as of 07:50, 16 May 2013
Contents |
Crystal structure of human thiamin pyrophosphokinase 1
Disease
[TPK1_HUMAN] Childhood encephalopathy due to thiamine pyrophosphokinase deficiency. Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458]: An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. Note=The disease is caused by mutations affecting the gene represented in this entry.[1]
Function
[TPK1_HUMAN] Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.[2]
About this Structure
3s4y is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- ↑ Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am J Hum Genet. 2011 Dec 9;89(6):806-12. doi: 10.1016/j.ajhg.2011.11.007. PMID:22152682 doi:10.1016/j.ajhg.2011.11.007
- ↑ Nosaka K, Onozuka M, Kakazu N, Hibi S, Nishimura H, Nishino H, Abe T. Isolation and characterization of a human thiamine pyrophosphokinase cDNA. Biochim Biophys Acta. 2001 Jan 26;1517(2):293-7. PMID:11342111
Categories: Homo sapiens | Thiamine diphosphokinase | Arrowsmith, C H. | Bountra, C. | Edwards, A M. | Li, Y. | Park, H. | SGC, Structural Genomics Consortium. | Shen, L. | Tempel, W. | Tong, Y. | Walker, J R. | Weigelt, J. | Kinase | Sgc | Structural genomic | Structural genomics consortium | Transferase
