SUMO1 📖 Wikipedia

SUMO1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4WJQ, 1A5R, 1TGZ, 1WYW, 1Y8R, 1Z5S, 2ASQ, 2BF8, 2G4D, 2IO2, 2IY0, 2IY1, 2KQS, 2LAS, 2MW5, 2PE6, 2UYZ, 2VRR, 3KYC, 3KYD, 3RZW, 3UIP, 4WJN, 4WJO, 4WJP, 5AEK, 2N1V, 2N1A
Identifiers
Aliases	SUMO1, DAP1, GMP1, OFC10, PIC1, SENP2, SMT3, SMT3C, SMT3H3, UBL1, small ubiquitin-like modifier 1, small ubiquitin like modifier 1
External IDs	OMIM: 601912; MGI: 1197010; HomoloGene: 2514; GeneCards: SUMO1; OMA:SUMO1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q33.1 Start 202,206,180 bp[1] End 202,238,608 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 C2 Start 59,625,717 bp[2] End 59,709,993 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone monocyte rectum gallbladder right adrenal cortex olfactory zone of nasal mucosa epithelium of colon anterior cingulate cortex left adrenal gland Top expressed in morula epiblast neural tube ventricular zone ganglionic eminence embryo blastocyst embryo mesencephalon ovary More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription factor binding potassium channel regulator activity protein binding protein tag ubiquitin protein ligase binding RNA binding transcription corepressor binding protein C-terminus binding SUMO transferase activity enzyme binding protein-macromolecule adaptor activity glucocorticoid receptor binding small protein activating enzyme binding ubiquitin-like protein ligase binding Cellular component cytoplasm PML body nuclear speck nuclear body nuclear membrane membrane voltage-gated potassium channel complex plasma membrane synapse nuclear pore nucleoplasm heterochromatin XY body dendrite nucleolus fibrillar center nucleus nuclear stress granule SUMO activating enzyme complex nuclear envelope cytosol Biological process roof of mouth development regulation of transcription, DNA-templated regulation of protein stability positive regulation of protein-containing complex assembly protein localization to nuclear pore protein stabilization negative regulation of action potential negative regulation of DNA-binding transcription factor activity regulation of protein localization regulation of cardiac muscle cell contraction global genome nucleotide-excision repair PML body organization regulation of interferon-gamma-mediated signaling pathway viral process negative regulation of transcription, DNA-templated double-strand break repair via nonhomologous end joining regulation of calcium ion transmembrane transport positive regulation of proteasomal ubiquitin-dependent protein catabolic process negative regulation of delayed rectifier potassium channel activity positive regulation of ATPase-coupled calcium transmembrane transporter activity DNA repair negative regulation of transcription by RNA polymerase II cellular response to heat cellular response to cadmium ion protein sumoylation negative regulation of DNA binding Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7341 22218 Ensembl ENSG00000116030 ENSMUSG00000026021 UniProt P63165 P63166 RefSeq (mRNA) NM_003352 NM_001005781 NM_001005782 NM_009460 RefSeq (protein) NP_001005781 NP_001005782 NP_003343 NP_001358321 NP_001358322 NP_001358323 NP_033486 Location (UCSC) Chr 2: 202.21 – 202.24 Mb Chr 1: 59.63 – 59.71 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Small ubiquitin-related modifier 1 is a protein that in humans is encoded by the SUMO1 gene.^[5][6]

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.^[7]

Most cleft genes have a sumoylation component.^[8] Analysis of chromosomal anomalies in patients has led to the identification and confirmation of SUMO1 as a cleft lip and palate locus.^[9]

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. A weakened heart results in symptoms of fatigue, decreased exercise tolerance and shortness of breath. Patients with heart failure have a significantly increased risk of death compared to people with normal heart function. Heart failure is a major public health concern, as its incidence is on the rise worldwide, and is a leading cause of death in developed nations ^[10]

SUMO 1 is a key component in cardiac function, since it helps regulate calcium homeostasis in the mitochondria of heart cells. SUMO 1 is associated with another essential cardiac protein called sarco/endoplasmic reticulum Ca2+ ATPase, or SERCA2A. SERCA is a transmembrane protein located in the sarcoplasmic reticulum of cardiac cells. Its main function is to regulate the discharge and uptake of intracellular calcium between the cytosol and the lumen of the sarcoplasmic reticulum. Calcium is an essential factor for the development of cardiac myocyte contraction and relaxation. Thus, the management of intracellular calcium homeostasis by SERCA2A is critical for overall cardiac performance.^[11] Normally, SUMO 1 activates and stabilizes SERCA2A by binding at lysine resides 480 and 585. The interaction between SUMO 1 and SERCA2A is crucial for regulating calcium levels inside cardiac myocytes. Reduction in SUMO 1 protein reduces SERCA2A, and thus efficient calcium handling in patients with failing hearts.^[12]

SUMO 1 may be an important therapeutic target to help improve cardiac performance in patients with heart failure. In a mouse model, the introduction of SUMO 1 through gene therapy was associated with improved activity of SERCA2A, which resulted in improved cardiac function through an augmentation of cardiac contractility.^[12] Furthermore, overexpression of SUMO 1 resulted in accelerated calcium uptake, providing further evidence regarding its importance in maintaining adequate calcium levels in heart cells.^[12]

• SENP6

• SUMO1 human gene location in the UCSC Genome Browser.
• SUMO1 human gene details in the UCSC Genome Browser.