2wvr: Difference between revisions
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{{STRUCTURE_2wvr| PDB=2wvr | SCENE= }} | {{STRUCTURE_2wvr| PDB=2wvr | SCENE= }} | ||
===HUMAN CDT1:GEMININ COMPLEX=== | ===HUMAN CDT1:GEMININ COMPLEX=== | ||
{{ABSTRACT_PUBMED_19906994}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/CDT1_HUMAN CDT1_HUMAN]] Defects in CDT1 are the cause of Meier-Gorlin syndrome type 4 (MGORS4) [MIM:[http://omim.org/entry/613804 613804]]. MGORS4 is a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal.<ref>PMID:21358632</ref><ref>PMID:21358631</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GEMI_HUMAN GEMI_HUMAN]] Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC). It is degraded during the mitotic phase of the cell cycle. Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle.<ref>PMID:9635433</ref><ref>PMID:14993212</ref><ref>PMID:22615398</ref> Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control.<ref>PMID:9635433</ref><ref>PMID:14993212</ref><ref>PMID:22615398</ref> [[http://www.uniprot.org/uniprot/CDT1_HUMAN CDT1_HUMAN]] Cooperates with CDC6 to promote the loading of the mini-chromosome maintenance complex onto chromatin to form the pre-replication complex necessary to initiate DNA replication. Binds DNA in a sequence-, strand-, and conformation-independent manner. Potential oncogene.<ref>PMID:11125146</ref><ref>PMID:21856198</ref><ref>PMID:14672932</ref><ref>PMID:14993212</ref>[UniProtKB:Q8R4E9] | |||
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==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019906994</ref><references group="xtra"/> | <ref group="xtra">PMID:019906994</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Marco, V De.]] | [[Category: Marco, V De.]] | ||