InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SUMO1

Summary

InnateDB Protein

IDBP-246050.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SUMO1

Protein Name

SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)

Synonyms

DAP1; GMP1; OFC10; PIC1; SENP2; SMT3; SMT3C; SMT3H3; UBL1;

Species

Homo sapiens

Ensembl Protein

ENSP00000376077

InnateDB Gene

IDBG-78849 (SUMO1)

Protein Structure

UniProt Annotation

Function

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. 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. {ECO:0000269PubMed:18408734, ECO:0000269PubMed:18538659, ECO:0000269PubMed:21965678, ECO:0000269PubMed:9019411, ECO:0000269PubMed:9162015}.

Subcellular Localization

Nucleus membrane. Nucleus speckle. Cytoplasm. Nucleus, PML body. Note=Recruited by BCL11A into the nuclear body. {ECO:0000250}.

Disease Associations

Non-syndromic orofacial cleft 10 (OFC10) [MIM:613705]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO:0000269PubMed:16990542}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving SUMO1 is the cause of OFC10. Translocation t(2;8)(q33.1;q24.3). The breakpoint occurred in the SUMO1 gene and resulted in haploinsufficiency confirmed by protein assays.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1363 experimentally validated interaction(s) in this database.
They are also associated with 32 interaction(s) predicted by orthology.

Experimentally validated
Total	1363 [view]
Protein-Protein	1353 [view]
Protein-DNA	6 [view]
Protein-RNA	0
DNA-DNA	4 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	32 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0019789	SUMO ligase activity
GO:0031625	ubiquitin protein ligase binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006281	DNA repair
GO:0006355	regulation of transcription, DNA-templated
GO:0016925	protein sumoylation
GO:0019221	cytokine-mediated signaling pathway
GO:0030578	PML body organization
GO:0031334	positive regulation of protein complex assembly
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032880	regulation of protein localization
GO:0043392	negative regulation of DNA binding
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0045892	negative regulation of transcription, DNA-templated
GO:0060021	palate development
GO:0060333	interferon-gamma-mediated signaling pathway
GO:0060334	regulation of interferon-gamma-mediated signaling pathway
GO:0090204	protein localization to nuclear pore

Cellular Component

GO:0001650	fibrillar center
GO:0005634	nucleus
GO:0005643	nuclear pore
GO:0005654	nucleoplasm
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0016604	nuclear body
GO:0016605	PML body
GO:0016607	nuclear speck
GO:0030425	dendrite
GO:0031965	nuclear membrane
GO:0045202	synapse