Q6EEV6
SS
Gene name |
SUMO4 (SMT3H4) |
Protein name |
Small ubiquitin-related modifier 4 |
Names |
SUMO-4 , Small ubiquitin-like protein 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:387082 |
EC number |
|
Protein Class |
|
Descriptions
The N-terminal region of SUMO1 functions as an autoinhibition domain by blocking its binding to the phosphorylated SIMs of PML and Daxx. This autoinhibition is relieved by zinc, which stabilizes the complex between SUMO1 and a phospho-mimetic form of the SIM of PML, suggesting a paralog specific function of SUMO1 in regulating SUMO1-SIM interactions required for PML-NB formation and function.
Autoinhibitory domains (AIDs)
Target domain |
16-93 (Ubiquitin-like domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
Autoinhibited structure
Activated structure
1 structures for Q6EEV6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6EEV6-F1 | Predicted | AlphaFoldDB |
103 variants for Q6EEV6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001668122 VAR_023740 RCV000002143 CA115316 rs237025 RCV002247237 |
55 | V>M | Type 1 diabetes mellitus 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002275823 rs78701690 |
1 | M>V | No |
ClinVar dbSNP |
|
| rs1782337059 | 3 | N>D | No | TOPMed | |
|
rs755625687 COSM3858975 |
4 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1449695838 | 5 | K>N | No |
TOPMed gnomAD |
|
| rs1170157450 | 6 | P>H | No | gnomAD | |
| rs1782337784 | 7 | T>A | No | Ensembl | |
| TCGA novel | 7 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200700577 | 9 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1163928188 | 9 | E>K | No | TOPMed | |
| rs1324743344 | 9 | E>V | No | gnomAD | |
| rs1782338525 | 10 | V>D | No | TOPMed | |
| rs1303132985 | 11 | K>E | No | gnomAD | |
| TCGA novel | 11 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747878222 | 13 | E>Q | No | ExAC | |
| rs1230865406 | 14 | N>S | No |
TOPMed gnomAD |
|
| rs2114951442 | 15 | N>K | No | Ensembl | |
| rs147083506 | 15 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1481896172 | 16 | N>D | No |
TOPMed gnomAD |
|
| rs926102651 | 16 | N>S | No | Ensembl | |
| rs1782340054 | 17 | H>L | No | Ensembl | |
| rs1782340322 | 19 | N>H | No | gnomAD | |
| rs530895667 | 21 | K>R | No |
1000Genomes ExAC gnomAD |
|
| rs1453261837 | 23 | A>E | No |
TOPMed gnomAD |
|
| rs1453261837 | 23 | A>V | No |
TOPMed gnomAD |
|
| rs1252136106 | 24 | G>E | No |
TOPMed gnomAD |
|
| rs1252136106 | 24 | G>V | No |
TOPMed gnomAD |
|
| rs1465222497 | 25 | Q>R | No | gnomAD | |
| rs770950559 | 26 | D>V | No |
ExAC gnomAD |
|
| rs776724248 | 29 | V>L | No |
ExAC gnomAD |
|
| rs1782342204 | 30 | V>M | No |
TOPMed gnomAD |
|
| rs759702203 | 32 | F>L | No |
ExAC gnomAD |
|
| rs1562454242 | 33 | K>E | No | Ensembl | |
| rs765354962 | 33 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs775848209 | 34 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs763159281 | 34 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs764530872 | 37 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs764530872 | 37 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1316444043 | 38 | T>I | No | gnomAD | |
| rs1368688819 | 40 | L>V | No | TOPMed | |
| rs377412354 | 41 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs377412354 | 41 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1461714170 | 46 | A>P | No |
TOPMed gnomAD |
|
| rs753398312 | 47 | Y>C | No |
ExAC TOPMed gnomAD |
|
| COSM4895387 | 50 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs57327874 RCV000956427 |
51 | R>Q | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs569573383 | 51 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1045677447 | 52 | G>* | No |
TOPMed gnomAD |
|
| rs1045677447 | 52 | G>R | No |
TOPMed gnomAD |
|
| rs1465146312 | 52 | G>V | No | gnomAD | |
| rs1193420645 | 53 | L>S | No |
TOPMed gnomAD |
|
| rs1193420645 | 53 | L>W | No |
TOPMed gnomAD |
|
| rs752402158 | 54 | S>L | No |
ExAC gnomAD |
|
| rs237025 | 55 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1450460015 | 56 | K>R | No | gnomAD | |
| rs746911325 | 58 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs371155775 | 58 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs746911325 | 58 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs745923032 | 59 | R>T | No |
ExAC gnomAD |
|
| rs769921334 | 61 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs769921334 | 61 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs763258079 | 61 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1157196104 | 62 | F>C | No | gnomAD | |
| rs1384779465 | 63 | G>R | No | gnomAD | |
| rs1782347759 | 63 | G>V | No | TOPMed | |
| rs547199824 | 65 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1782348032 | 65 | Q>R | No | TOPMed | |
| rs774822853 | 66 | P>A | No |
ExAC gnomAD |
|
| rs1782348450 | 66 | P>R | No | Ensembl | |
| rs1292541852 | 67 | I>M | No |
TOPMed gnomAD |
|
| rs143374045 | 67 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1329784625 | 68 | S>G | No | gnomAD | |
| rs768120778 | 68 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1393832561 | 70 | T>I | No | TOPMed | |
| rs1258738663 | 72 | K>E | No |
TOPMed gnomAD |
|
| rs2114952166 | 72 | K>T | No | Ensembl | |
| COSM1074404 | 73 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758906762 | 74 | A>S | No |
ExAC gnomAD |
|
| rs752246181 | 75 | Q>R | No |
ExAC gnomAD |
|
| rs1782350407 | 77 | E>Q | No | TOPMed | |
| rs1397326803 | 80 | D>G | No |
TOPMed gnomAD |
|
| TCGA novel | 80 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2114952258 | 82 | D>E | No | Ensembl | |
| rs1473855220 | 83 | T>I | No | gnomAD | |
| rs1473855220 | 83 | T>R | No | gnomAD | |
| rs777445425 | 84 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs758102700 | 84 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1466909520 | 85 | D>Y | No | gnomAD | |
| rs1373889117 | 88 | Q>* | No | gnomAD | |
| rs1782351660 | 88 | Q>R | No | Ensembl | |
| COSM3858978 | 89 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1352481945 | 90 | P>H | No | gnomAD | |
| rs757103557 | 90 | P>S | No |
ExAC gnomAD |
|
| rs781040928 | 91 | T>A | No |
ExAC TOPMed gnomAD |
|
|
RCV000956428 rs73779334 |
91 | T>M | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs781040928 | 91 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs202220494 | 93 | G>D | No |
1000Genomes ExAC gnomAD |
|
| rs530426321 | 93 | G>R | No | Ensembl | |
| rs202220494 | 93 | G>V | No |
1000Genomes ExAC gnomAD |
|
| rs145654400 | 94 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs768974962 | 95 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs768974962 | 95 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs200127080 | 96 | Y>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
1 associated diseases with Q6EEV6
[MIM: 600320]: Type 1 diabetes mellitus 5 (T1D5)
A form of diabetes mellitus, a multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. . Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Valine at position 55 results in greater NFKB1 transcriptional activity and IL12B expression and may be associated with susceptibility to insulin-dependent diabetes mellitus. .
Without disease ID
- A form of diabetes mellitus, a multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. . Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Valine at position 55 results in greater NFKB1 transcriptional activity and IL12B expression and may be associated with susceptibility to insulin-dependent diabetes mellitus. .
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| SUMO ligase complex | A protein ligase complex that enables protein sumoylation. Consists of a SUMO-protein transferase and other proteins that may confer substrate specificity of the complex. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein tag activity | A molecular function exhibited by a protein that is covalently attached (AKA tagged or conjugated) to another protein where it acts as a marker, recognized by the cellular apparatus to target the tagged protein for some cellular process such as modification, sequestration, transport or degradation. |
| ubiquitin-like protein ligase binding | Binding to a ubiquitin-like protein ligase, such as ubiquitin-ligase. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to oxidative stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| negative regulation of DNA binding | Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of DNA binding | Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). |
| protein sumoylation | The process in which a SUMO protein (small ubiquitin-related modifier) is conjugated to a target protein via an isopeptide bond between the carboxy-terminus of SUMO with an epsilon-amino group of a lysine residue of the target protein. |
| regulation of canonical NF-kappaB signal transduction | Any process that modulates I-kappaB kinase/NF-kappaB signaling. |
| regulation of protein localization to nucleus | Any process that modulates the frequency, rate or extent of protein localization to nucleus. |
33 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9D1 | SUMO1 | Small ubiquitin-related modifier 1 | Bos taurus (Bovine) | SS |
| Q17QV3 | SUMO3 | Small ubiquitin-related modifier 3 | Bos taurus (Bovine) | SS |
| Q5ZHQ1 | SUMO3 | Small ubiquitin-related modifier 3 | Gallus gallus (Chicken) | SS |
| Q5ZJM9 | SUMO2 | Small ubiquitin-related modifier 2 | Gallus gallus (Chicken) | SS |
| Q8QGH2 | SUMO1 | Small ubiquitin-related modifier 1 | Gallus gallus (Chicken) | SS |
| Q9VCP1 | CG4449 | Uncharacterized protein CG4449 | Drosophila melanogaster (Fruit fly) | PR |
| P61956 | SUMO2 | Small ubiquitin-related modifier 2 | Homo sapiens (Human) | SS |
| P55854 | SUMO3 | Small ubiquitin-related modifier 3 | Homo sapiens (Human) | SS |
| P63165 | SUMO1 | Small ubiquitin-related modifier 1 | Homo sapiens (Human) | EV |
| G2XKQ0 | SUMO1P1 | Small ubiquitin-related modifier 5 | Homo sapiens (Human) | SS |
| P61957 | Sumo2 | Small ubiquitin-related modifier 2 | Mus musculus (Mouse) | SS |
| P63166 | Sumo1 | Small ubiquitin-related modifier 1 | Mus musculus (Mouse) | SS |
| Q9Z172 | Sumo3 | Small ubiquitin-related modifier 3 | Mus musculus (Mouse) | SS |
| A7WLH8 | SUMO1 | Small ubiquitin-related modifier 1 | Sus scrofa (Pig) | SS |
| P61958 | SUMO2 | Small ubiquitin-related modifier 2 | Sus scrofa (Pig) | SS |
| P61959 | Sumo2 | Small ubiquitin-related modifier 2 | Rattus norvegicus (Rat) | SS |
| Q5I0H3 | Sumo1 | Small ubiquitin-related modifier 1 | Rattus norvegicus (Rat) | SS |
| Q5XIF4 | Sumo3 | Small ubiquitin-related modifier 3 | Rattus norvegicus (Rat) | SS |
| P55857 | SUMO1 | Small ubiquitin-related modifier 1 | Oryza sativa subsp. japonica (Rice) | SS |
| P55853 | smo-1 | Small ubiquitin-related modifier | Caenorhabditis elegans | SS |
| B3H5R8 | SUMO8 | Putative small ubiquitin-related modifier 8 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P55852 | SUMO1 | Small ubiquitin-related modifier 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q8VZI7 | SUMO5 | Small ubiquitin-related modifier 5 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FKC5 | SUMO4 | Putative small ubiquitin-related modifier 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FLP5 | SUMO3 | Small ubiquitin-related modifier 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q3E8A8 | SUMO7 | Putative small ubiquitin-related modifier 7 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FLP6 | SUMO2 | Small ubiquitin-related modifier 2 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q6DEP7 | sumo1 | Small ubiquitin-related modifier 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q28H04 | sumo2 | Small ubiquitin-related modifier 2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q6DHL4 | sumo2 | Small ubiquitin-related modifier 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6NV25 | sumo3l | Small ubiquitin-related modifier 3-like | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q7SZR5 | sumo1 | Small ubiquitin-related modifier 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6DI05 | sumo3 | Small ubiquitin-related modifier 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANEKPTEEV | KTENNNHINL | KVAGQDGSVV | QFKIKRQTPL | SKLMKAYCEP | RGLSVKQIRF |
| 70 | 80 | 90 | |||
| RFGGQPISGT | DKPAQLEMED | EDTIDVFQQP | TGGVY |