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FLASH GENE

Symbol

SUMO1

contributors: mct/ - updated : 29-09-2018

HGNC name	SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)
HGNC id	12502

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q33.1      Physical location : 203.070.902 - 203.103.322
Synonym name	SMT3 suppressor of mif two 3 homolog 1 (yeast)
	small ubiquitin related modifier 1
	ubiquitin-homology domain protein PIC1
	sentrin
	GAP-modifying protein 1
Synonym symbol(s)	PIC1, GMP1, SMT3, UBL1, SENP2, SMT3C, SMT3H3, SUMO-1, SUMO, OFC10, DAP1

DNA

TYPE	functioning gene
STRUCTURE	32.42 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003352 5 - 1527 NP_003343 11.5 97 - 2008 18983974 also called variant 1 NM_001005781 6 - 1078 NP_001005781 - 101 - 2008 18983974 also called variant 2 NM_001005782 4 - 1452 NP_001005782 - 76 - 2008 18983974 also called variant 3

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Endocrine parathyroid       highly Reproductive male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to yeast S.cerevisiae smt3 (see SMT3H1)

intraspecies

homolog to SMT3H1

Homologene

FAMILY	SMT3 subfamily
	superfamily of ubiquitin-like proteins
	SUMO subfamily

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
	intracellular,nuclear envelope,pore
text	localizes to the mitotic spindle and spindle midzone

basic FUNCTION	involved in posttranslational modifications of many proteins
	protecting against both Fas/Apo-1 (TNFRSF6) or TNFR1 apoptosis, and antagonizing IKBA to generate protein resistant to degradation
	involved in DNA repair topoisomerase mediated DNA damage
	involved in NF-kappaB activation and may thus be involved in type 1 diabetes through apoptosis in pancreatic beta-cells
	may control the activity of a repertoire of downstream effectors involved in palatogenesis
	with other SUMO proteins, binding to lysine residues of target proteins and thereby modifying their stability, activity and subcellular localization
	playing a role in meiotic chromosome synapsis
	both SUMO1 and SUMO2 had the ability to enhance the solubility of MMP13, with the SUMO2 tag having a more significant effect
	with SUMO2 and SUMO3 accumulate at DNA double-strand breaks sites in mammalian cells, with SUMO1 and SUMO2/3 accrual requiring the E3 ligase enzymes PIAS4 and PIAS1
	covalently monoconjugated to proteins at lysine residues, thereby playing a critical role in many cellular processes, as mentioned earlier, through rapidly reversible changes in sumoylation status
	plays an important role in modulation of NADPH oxidase complex (NOX) activity required for ROS generation
	plays an essential role in ROS generation caused by NADPH oxidase activity
	plays a key role in ROS generation by modifying NOX and inhibiting its enzymatic activity
	is an important regulatory mechanism that indirectly represses the production of ROS to ameliorate cellular stress

CELLULAR PROCESS	cell cycle, checkpoint
	cell life
	nucleotide, repair, recombination
	protein, degradation
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

immunity/defense , cellular trafficking transport

text	nucleo-cytoplasmic protein transport, stress response

PATHWAY

metabolism

signaling

SUMO pathway critically regulates PRDM1 function during plasma cell differentiation

a component

non-covalent ternary complex formed by PIAS1, SUMO1, and UBE2I proteins involved in transcriptional regulation

INTERACTION

DNA

RNA

small molecule

protein	covalently linked to PML and NFKBIA via a conjugation step, requiring the activating enzymes SAE1 (AOS1) and SAE2 (UBA2)
	associating with RAD51 and RAD52 proteins in the double strand break RAD51/RAD52 repair pathway
	conjugating with TOP2A, TOP2B in response to DNA damage
	conjugating to PCNA
	interacting wiht DDXP1, TP53
	targeting RANBP2
	sumoylating ETV6 after conjugation of ETV6 by UBE2I
	physically interacts with KLF4 in a region that matches an acidic and hydrophobic residue-rich SUMO-interacting motif (SIM) consensus
	decreases JNK and MAPK14 activities, downstream of intracellular ROS signaling molecule, and increases cell viability response to heat-shock
	partially sumoylates CYBB at plasma membrane and negatively modulates the ROS generation from CYBB
	SUMOylation strongly enhances NKX2-5 transcriptional activity and that AA K51 of NKX2-5 is a SUMOylation target
	ATP2A2 binds to SUMO1 and to ubiquitin-conjugating enzyme E2I (UBE2I)
	more extensive contacts among SUMO, UBE2I, and RANBP2 in complexes containing SUMO1 compared with SUMO2
	SUMO modification of the GLP1R could be a contributing factor to reduced incretin responsiveness
	importance of SUMO modification of PCNA in preventing replication fork collapse to DNA double-strand breaks and providing genome stability
	direct interaction between PGRMC1 and SUMO1, and this interaction is increased by progesterone
	SUMO1, or more likely, a sumoylated protein, acts as an allosteric regulator of DPP9
	DPP9 and SUMO1 interact in a SIM-independent manner, suggesting a novel surface on SUMO1 for noncovalent interactions with downstream effectors
	noncovalent interaction of DPP9 with SUMO1 leads to activation of the peptidase
	UBA2 interacts with both SUMO1 and SUMO2, both DPP8 and DPP9 showed a strong preference toward SUMO1 binding
	CLOCK is a substrate of SUMO and sumoylation of CLOCK upregulates the transcriptional activity of ESR1
	SUMO1 is involved in posttranslational modification of the lamin A tail
	TRIM5 is a SUMO1 and SUMO2 substrate
	AGO2 can be SUMOylated in mammalian cells by both SUMO1 and SUMO2
	PES1 could be modified by the small ubiquitin-like modifier (SUMO) SUMO1, SUMO2 and SUMO3, and SUMOylation of PES1 was stimulated by estrogen (E2)
	TRIM28 binds NLRP3, promotes SUMO1, SUMO2 and SUMO3 modification of NLRP3, and thereby inhibits NLRP3 ubiquitination and proteasomal degradation

cell & other

REGULATION

activated by

E1 enzymes

Other

conjugating with TOP1

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in autism with duplicated UBE3A constitutional         haploinsufficiency leads to cleft lip and palate constitutional     --other   alterations in SUMO1 substrate conjugation may occur and global posttranslational modifications by ubiquitin may play an important role in the mechanisms underlying Alzheimer disease constitutional     --over   in isolated cardiomyocytes augmented contractility and accelerated Ca2+ decay

Susceptibility

to non-syndromic cleft lip with or without cleft palate (NSCLP)

Variant & Polymorphism SNP	significant correlations between a 4-SNP SUMO1 haplotype and NSCLP

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular aquired heart failure targeting SUMO1 may provide a novel therapeutic strategy for the treatment of heart failure

ANIMAL & CELL MODELS