Category: Proteins & Peptides

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Reference: GTX13712-PEP

Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3 (see MIM 61128) methylation. SETDB2 is likely a histone H3 methyltransferase, as it contains both the active site and flanking cysteine residues required for catalytic activity (Zhang et al., 23 [PubMed 1275451]).[supplied by OMIM, Mar 28]

Reference: GTX13796-PEP

This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 1-11 subunits ranging in size from 22 to 15 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 6% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 28]

Reference: GTX13820-PEP

This gene encodes a protein-disulfide isomerase. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream MUTED (muted homolog) gene. [provided by RefSeq, Dec 21]

Reference: GTX14676-PEP

The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 211]