SUMO1


Description

The SUMO1 (small ubiquitin like modifier 1) is a protein-coding gene located on chromosome 2.

Small ubiquitin-related modifier 1 is a protein that in humans is encoded by the SUMO1 gene.

== Function == This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It is a ubiquitin-like protein and functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin, which is primarily associated with targeting proteins for proteasomal degradation, SUMO1 is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. Most cleft genes have a sumoylation component. Analysis of chromosomal anomalies in patients has led to the identification and confirmation of SUMO1 as a cleft lip and palate locus.

== Interactions == Small ubiquitin-related modifier 1 has been shown to interact with:

== Role in the heart == Heart failure is a process by which the heart’s pumping ability is significantly weakened, so that the body is unable to get adequate circulation.

SUMO1 is a ubiquitin-like protein that can be attached to other proteins as a single molecule (monomer) or a chain of molecules (polymer). This attachment, called sumoylation, is a type of post-translational modification that occurs on lysine residues within target proteins. Sumoylation requires a series of steps involving specific enzymes: the E1 complex (SAE1-SAE2) activates SUMO1, the E2 enzyme (UBE2I) transfers SUMO1, and E3 ligases (PIAS1-4, RANBP2, CBX4) promote the attachment. Sumoylation plays a key role in many cellular processes, including nuclear transport, DNA replication and repair, mitosis, and signal transduction. For example, SUMO1 targets the protein RANGAP1 to the nuclear pore complex protein RANBP2, and it modifies the voltage-gated potassium channel KCNB1, affecting its function (PubMed:19223394). Polymeric SUMO1 chains can also be tagged with ubiquitin, signaling their degradation by the proteasome. SUMO1 may also influence palate development (PubMed:24651376).

SUMO1 is also known as DAP1, GMP1, OFC10, PIC1, SENP2, SMT3, SMT3C, SMT3H3, UBL1.

Associated Diseases


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