2vx3: Difference between revisions
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{{STRUCTURE_2vx3| PDB=2vx3 | SCENE= }} | {{STRUCTURE_2vx3| PDB=2vx3 | SCENE= }} | ||
===Crystal structure of the human dual specificity tyrosine- phosphorylation-regulated kinase 1A=== | |||
{{ABSTRACT_PUBMED_021126318}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/DYR1A_HUMAN DYR1A_HUMAN]] Defects in DYRK1A are the cause of mental retardation autosomal dominant type 7 (MRD7) [MIM:[http://omim.org/entry/614104 614104]]. A disease characterized by primary microcephaly, severe mental retardation without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.<ref>PMID:21294719</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/DYR1A_HUMAN DYR1A_HUMAN]] May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates.<ref>PMID:8769099</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[2vx3]] is a 4 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=2VX3 OCA]. | [[2vx3]] is a 4 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=2VX3 OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Dual-specificity kinase]] | [[Category: Dual-specificity kinase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||