Gene: SUMO1

Basic information

Tag Content
Uniprot ID P63165; A8MUS8; B2R4I5; P55856; Q6FGG0; Q6NZ62; Q93068;
Entrez ID 7341
Genbank protein ID AAP35278.1; AAB40390.1; AAB40388.1; AAH53528.1; CAG46953.1; AAB39999.1; AAY24035.1; CAA67898.1; EAW70307.1; AAH66306.1; AAC50733.1; AAC50996.1; CAG46944.1; EAW70304.1; BAB93477.1; BAG34782.1; AAH06462.1;
Genbank nucleotide ID NM_001005781.1; NM_001005782.1; NM_003352.4;
Ensembl protein ID ENSP00000376077; ENSP00000376076; ENSP00000376075;
Ensembl nucleotide ID ENSG00000116030
Gene name Small ubiquitin-related modifier 1
Gene symbol SUMO1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 20544801
Functional description Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for instance in targeting RANGAP1 to the nuclear pore complex protein RANBP2. Covalently attached to the voltage-gated potassium channel KCNB1; this modulates the gating characteristics of KCNB1 (PubMed:19223394). Polymeric SUMO1 chains are also susceptible to polyubiquitination which functions as a signal for proteasomal degradation of modified proteins. May also regulate a network of genes involved in palate development. Covalently attached to ZFHX3 (PubMed:24651376).
Sequence
MSDQEAKPST EDLGDKKEGE YIKLKVIGQD SSEIHFKVKM TTHLKKLKES YCQRQGVPMN 60
SLRFLFEGQR IADNHTPKEL GMEEEDVIEV YQEQTGGHST V 101

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSUMO1614967Q5E9D1Bos taurusPredictionMore>>
1:1 orthologSUMO1478874E2RR10Canis lupus familiarisPredictionMore>>
1:1 orthologSUMO1A0A452DXV1Capra hircusPredictionMore>>
1:1 orthologSUMO17341P63165Homo sapiensPublicationMore>>
1:1 orthologSumo122218P63166CPOE13.5, E14.5Mus musculusPublicationMore>>
1:1 orthologSUMO1A0A2I3SHN2Pan troglodytesPredictionMore>>
1:1 orthologSUMO1100127139A7WLH8Sus scrofaPredictionMore>>
1:1 orthologSumo1301442Q5I0H3Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
SUMO1rs2350358G>CPCR-RFLP20544801

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001222 transcription corepressor bindingIPI
GO:0003723 RNA bindingHDA
GO:0005515 protein bindingIPI
GO:0008022 protein C-terminus bindingIDA
GO:0008022 protein C-terminus bindingIMP
GO:0008134 transcription factor bindingISS
GO:0015459 potassium channel regulator activityIDA
GO:0019899 enzyme bindingIPI
GO:0030674 protein binding, bridgingIMP
GO:0031386 protein tagIBA
GO:0031625 ubiquitin protein ligase bindingIPI
GO:0035259 glucocorticoid receptor bindingIPI
GO:0044388 small protein activating enzyme bindingIPI
GO:0044389 ubiquitin-like protein ligase bindingIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IITAS
GO:0006281 DNA repairTAS
GO:0006303 double-strand break repair via nonhomologous end joiningTAS
GO:0016032 viral processIEA
GO:0016925 protein sumoylationIDA
GO:0016925 protein sumoylationIMP
GO:0016925 protein sumoylationIBA
GO:0016925 protein sumoylationTAS
GO:0030578 PML body organizationIEA
GO:0031334 positive regulation of protein-containing complex assemblyIDA
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic processIDA
GO:0032880 regulation of protein localizationTAS
GO:0034605 cellular response to heatIDA
GO:0043392 negative regulation of DNA bindingIMP
GO:0043392 negative regulation of DNA bindingIDA
GO:0043433 negative regulation of DNA-binding transcription factor activityIMP
GO:0045759 negative regulation of action potentialIDA
GO:0045892 negative regulation of transcription, DNA-templatedIMP
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0050821 protein stabilizationIDA
GO:0060021 roof of mouth developmentISS
GO:0060334 regulation of interferon-gamma-mediated signaling pathwayTAS
GO:0071276 cellular response to cadmium ionIDA
GO:0086004 regulation of cardiac muscle cell contractionIEA
GO:0090204 protein localization to nuclear poreIEA
GO:1901896 positive regulation of ATPase-coupled calcium transmembrane transporter activityIEA
GO:1902260 negative regulation of delayed rectifier potassium channel activityIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0000792 heterochromatinIEA
GO:0001650 fibrillar centerIEA
GO:0001741 XY bodyIEA
GO:0005634 nucleusHDA
GO:0005634 nucleusIBA
GO:0005634 nucleusIDA
GO:0005635 nuclear envelopeTAS
GO:0005643 nuclear poreTAS
GO:0005654 nucleoplasmIDA
GO:0005654 nucleoplasmTAS
GO:0005730 nucleolusIDA
GO:0005829 cytosolTAS
GO:0005886 plasma membraneIDA
GO:0016604 nuclear bodyIDA
GO:0016605 PML bodyIDA
GO:0016607 nuclear speckIEA
GO:0030425 dendriteIEA
GO:0031510 SUMO activating enzyme complexIDA
GO:0031965 nuclear membraneIDA
GO:0045202 synapseIEA
GO:0097165 nuclear stress granuleIDA
GO:0008076 voltage-gated potassium channel complexIDA
GO:0016605 PML bodyIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-1640170 Cell CycleTAS
R-HSA-168256 Immune SystemTAS
R-HSA-212436 Generic Transcription PathwayIEA
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-2990846 SUMOylationTAS
R-HSA-2990846 SUMOylationIEA
R-HSA-3065676 SUMO is conjugated to E1 (UBA2:SAE1)TAS
R-HSA-3065678 SUMO is transferred from E1 to E2 (UBE2I, UBC9)TAS
R-HSA-3065679 SUMO is proteolytically processedTAS
R-HSA-3108214 SUMOylation of DNA damage response and repair proteinsTAS
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteinsTAS
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteinsIEA
R-HSA-3215018 Processing and activation of SUMOTAS
R-HSA-3232118 SUMOylation of transcription factorsIEA
R-HSA-3232118 SUMOylation of transcription factorsTAS
R-HSA-3232142 SUMOylation of ubiquitinylation proteinsTAS
R-HSA-3899300 SUMOylation of transcription cofactorsTAS
R-HSA-3899300 SUMOylation of transcription cofactorsIEA
R-HSA-392499 Metabolism of proteinsTAS
R-HSA-392499 Metabolism of proteinsIEA
R-HSA-4085377 SUMOylation of SUMOylation proteinsTAS
R-HSA-4090294 SUMOylation of intracellular receptorsTAS
R-HSA-4090294 SUMOylation of intracellular receptorsIEA
R-HSA-4551638 SUMOylation of chromatin organization proteinsTAS
R-HSA-4551638 SUMOylation of chromatin organization proteinsIEA
R-HSA-4570464 SUMOylation of RNA binding proteinsTAS
R-HSA-4615885 SUMOylation of DNA replication proteinsTAS
R-HSA-4615885 SUMOylation of DNA replication proteinsIEA
R-HSA-4655427 SUMOylation of DNA methylation proteinsTAS
R-HSA-4655427 SUMOylation of DNA methylation proteinsIEA
R-HSA-4755510 SUMOylation of immune response proteinsTAS
R-HSA-5693532 DNA Double-Strand Break RepairTAS
R-HSA-5693538 Homology Directed RepairTAS
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksTAS
R-HSA-5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)TAS
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)TAS
R-HSA-5693606 DNA Double Strand Break ResponseTAS
R-HSA-5693607 Processing of DNA double-strand break endsTAS
R-HSA-5696395 Formation of Incision Complex in GG-NERTAS
R-HSA-5696398 Nucleotide Excision RepairTAS
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER)TAS
R-HSA-597592 Post-translational protein modificationTAS
R-HSA-597592 Post-translational protein modificationIEA
R-HSA-69473 G2/M DNA damage checkpointTAS
R-HSA-69481 G2/M CheckpointsTAS
R-HSA-69620 Cell Cycle CheckpointsTAS
R-HSA-73857 RNA Polymerase II TranscriptionIEA
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-73894 DNA RepairTAS
R-HSA-74160 Gene expression (Transcription)IEA
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-877300 Interferon gamma signalingTAS
R-HSA-877312 Regulation of IFNG signalingTAS
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsIEA
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsTAS
R-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factorsIEA
R-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factorsTAS
R-HSA-913531 Interferon SignalingTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0025 Alternative splicing
KW-1003 Cell membrane
KW-0160 Chromosomal rearrangement
KW-0963 Cytoplasm
KW-0945 Host-virus interaction
KW-1017 Isopeptide bond
KW-0472 Membrane
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0832 Ubl conjugation
KW-0833 Ubl conjugation pathway

Interpro

InterPro ID InterPro Term
IPR022617 Rad60/SUMO-like_dom
IPR000626 Ubiquitin-like_dom
IPR029071 Ubiquitin-like_domsf

PROSITE

PROSITE ID PROSITE Term
PS50053 UBIQUITIN_2

Pfam

Pfam ID Pfam Term
PF11976 Rad60-SLD

Protein-protein interaction

Protein-miRNA interaction