This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transc... See more...

Aliases for SUMO4 Gene

Aliases for SUMO4 Gene

  • Small Ubiquitin Like Modifier 4 2 3 5
  • Insulin-Dependent Diabetes Mellitus 5 2 3
  • Small Ubiquitin-Related Modifier 4 3 4
  • DJ281H8.4 2 3
  • SMT3H4 3 4
  • SUMO-4 3 4
  • SMT3 Suppressor Of Mif Two 3 Homolog 4 (S. Cerevisiae) 2
  • SMT3 Suppressor Of Mif Two 3 Homolog 4 (Yeast) 2
  • Small Ubiquitin-Like Modifier 4 Protein 3
  • SMT3 Suppressor Of Mif Two 3 Homolog 2 3
  • SMT3 Suppressor Of Mif Two 3 Homolog 4 3
  • Small Ubiquitin-Like Protein 4 4
  • IDDM5 3
  • SUMO4 5

External Ids for SUMO4 Gene

Previous HGNC Symbols for SUMO4 Gene

  • SMT3H4
  • IDDM5

Previous GeneCards Identifiers for SUMO4 Gene

  • GC06U900642
  • GC0XM114776
  • GC06P149763
  • GC06P147288

Summaries for SUMO4 Gene

Entrez Gene Summary for SUMO4 Gene

  • This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq, Jul 2008]

GeneCards Summary for SUMO4 Gene

SUMO4 (Small Ubiquitin Like Modifier 4) is a Protein Coding gene. Diseases associated with SUMO4 include Type 1 Diabetes Mellitus 5 and Diabetes Mellitus. Among its related pathways are Fluid shear stress and atherosclerosis and RNA transport. An important paralog of this gene is SUMO2.

UniProtKB/Swiss-Prot Summary for SUMO4 Gene

  • Ubiquitin-like protein which can be covalently attached to target lysines as a monomer. Does not seem to be involved in protein degradation and may modulate protein subcellular localization, stability or activity. Upon oxidative stress, conjugates to various anti-oxidant enzymes, chaperones, and stress defense proteins. May also conjugate to NFKBIA, TFAP2A and FOS, negatively regulating their transcriptional activity, and to NR3C1, positively regulating its transcriptional activity. Covalent attachment to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I.

Gene Wiki entry for SUMO4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUMO4 Gene

Genomics for SUMO4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SUMO4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUMO4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUMO4

Top Transcription factor binding sites by QIAGEN in the SUMO4 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • GATA-1
  • GR
  • GR-alpha
  • PPAR-alpha

Genomic Locations for SUMO4 Gene

Latest Assembly
chr6:149,400,262-149,401,278
(GRCh38/hg38)
Size:
1,017 bases
Orientation:
Plus strand

Previous Assembly
chr6:149,721,398-149,722,414
(GRCh37/hg19 by Entrez Gene)
Size:
1,017 bases
Orientation:
Plus strand

chr6:149,721,495-149,722,177
(GRCh37/hg19 by Ensembl)
Size:
683 bases
Orientation:
Plus strand

Genomic View for SUMO4 Gene

Genes around SUMO4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUMO4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUMO4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUMO4 Gene

Proteins for SUMO4 Gene

  • Protein details for SUMO4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6EEV6-SUMO4_HUMAN
    Recommended name:
    Small ubiquitin-related modifier 4
    Protein Accession:
    Q6EEV6
    Secondary Accessions:
    • A1L3W5

    Protein attributes for SUMO4 Gene

    Size:
    95 amino acids
    Molecular mass:
    10685 Da
    Quaternary structure:
    • Interacts with SAE2. Covalently attached to a number of proteins (Probable).

neXtProt entry for SUMO4 Gene

Post-translational modifications for SUMO4 Gene

  • In contrast to SUMO1, SUMO2 and SUMO3, seems to be insensitive to sentrin-specific proteases due to the presence of Pro-90. This may impair processing to mature form and conjugation to substrates.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SUMO4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SUMO4 Gene

Domains & Families for SUMO4 Gene

Gene Families for SUMO4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SUMO4 Gene

InterPro:
Blocks:
  • Ubiquitin domain

Suggested Antigen Peptide Sequences for SUMO4 Gene

GenScript: Design optimal peptide antigens:
  • Small ubiquitin-like protein 4 (SUMO4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6EEV6

UniProtKB/Swiss-Prot:

SUMO4_HUMAN :
  • Belongs to the ubiquitin family. SUMO subfamily.
Family:
  • Belongs to the ubiquitin family. SUMO subfamily.
genes like me logo Genes that share domains with SUMO4: view

Function for SUMO4 Gene

Molecular function for SUMO4 Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-like protein which can be covalently attached to target lysines as a monomer. Does not seem to be involved in protein degradation and may modulate protein subcellular localization, stability or activity. Upon oxidative stress, conjugates to various anti-oxidant enzymes, chaperones, and stress defense proteins. May also conjugate to NFKBIA, TFAP2A and FOS, negatively regulating their transcriptional activity, and to NR3C1, positively regulating its transcriptional activity. Covalent attachment to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I.

Phenotypes From GWAS Catalog for SUMO4 Gene

Gene Ontology (GO) - Molecular Function for SUMO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
GO:0031386 protein tag IBA 21873635
GO:0044389 ubiquitin-like protein ligase binding IBA 21873635
genes like me logo Genes that share ontologies with SUMO4: view
genes like me logo Genes that share phenotypes with SUMO4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUMO4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SUMO4 Gene

Localization for SUMO4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUMO4 gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SUMO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0106068 SUMO ligase complex IDA 16236267
genes like me logo Genes that share ontologies with SUMO4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SUMO4 Gene

Pathways & Interactions for SUMO4 Gene

genes like me logo Genes that share pathways with SUMO4: view

Pathways by source for SUMO4 Gene

2 KEGG pathways for SUMO4 Gene
2 R&D Systems pathways for SUMO4 Gene
1 GeneTex pathway for SUMO4 Gene

Gene Ontology (GO) - Biological Process for SUMO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016925 protein sumoylation IBA,IDA 15247916
GO:0034599 cellular response to oxidative stress IDA 16236267
GO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling IDA 15247916
GO:0043388 positive regulation of DNA binding IDA 16236267
GO:0043392 negative regulation of DNA binding IDA 16236267
genes like me logo Genes that share ontologies with SUMO4: view

No data available for SIGNOR curated interactions for SUMO4 Gene

Drugs & Compounds for SUMO4 Gene

(3) Drugs for SUMO4 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tacrolimus Approved, Investigational Pharma 1328
genes like me logo Genes that share compounds with SUMO4: view

Transcripts for SUMO4 Gene

mRNA/cDNA for SUMO4 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUMO4

Alternative Splicing Database (ASD) splice patterns (SP) for SUMO4 Gene

No ASD Table

Relevant External Links for SUMO4 Gene

GeneLoc Exon Structure for
SUMO4

Expression for SUMO4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUMO4 Gene

Protein differential expression in normal tissues from HIPED for SUMO4 Gene

This gene is overexpressed in Skin (53.8), Heart (7.7), and Brain (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SUMO4 Gene



Protein tissue co-expression partners for SUMO4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUMO4

SOURCE GeneReport for Unigene cluster for SUMO4 Gene:

Hs.657168

mRNA Expression by UniProt/SwissProt for SUMO4 Gene:

Q6EEV6-SUMO4_HUMAN
Tissue specificity: Expressed mainly in adult and embryonic kidney. Expressed at various levels in immune tissues, with the highest expression in the lymph node and spleen.

Evidence on tissue expression from TISSUES for SUMO4 Gene

  • Kidney(2.3)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with SUMO4: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUMO4 Gene

Orthologs for SUMO4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SUMO4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SUMO4 29
  • 98.95 (n)
-- 30
  • 39 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia SUMO2 30
  • 85 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 77 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SUMO3 30
  • 74 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Sumo3 30
  • 70 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 61 (a)
OneToMany
Chicken
(Gallus gallus)
Aves SUMO2 30
  • 85 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 85 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii sumo2b 30
  • 81 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta smt3 30
  • 62 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMT3 30
  • 36 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11356 30
  • 62 (a)
OneToMany
Species where no ortholog for SUMO4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SUMO4 Gene

ENSEMBL:
Gene Tree for SUMO4 (if available)
TreeFam:
Gene Tree for SUMO4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUMO4: view image
Alliance of Genome Resources:
Additional Orthologs for SUMO4

Paralogs for SUMO4 Gene

Paralogs for SUMO4 Gene

(4) SIMAP similar genes for SUMO4 Gene using alignment to 1 proteins:

  • SUMO4_HUMAN
genes like me logo Genes that share paralogs with SUMO4: view

Variants for SUMO4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUMO4 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs237025 Pathogenic: Diabetes mellitus, insulin-dependent, 5 149,400,554(+) G/Ap.Met55Val
NM_001002255.2(SUMO4):c.163G>A (p.Val55Met)
MISSENSE_VARIANT,INTRON
rs57327874 Likely Benign: not provided 149,400,543(+) G/A
NM_001002255.2(SUMO4):c.152G>A (p.Arg51Gln)
MISSENSE_VARIANT,INTRON
rs73779334 Likely Benign: not provided 149,400,663(+) C/T
NM_001002255.2(SUMO4):c.272C>T (p.Thr91Met)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SUMO4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SUMO4 Gene

Variant ID Type Subtype PubMed ID
nsv522875 CNV loss 19592680
nsv969455 CNV duplication 23825009

Variation tolerance for SUMO4 Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUMO4 Gene

Human Gene Mutation Database (HGMD)
SUMO4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUMO4
Leiden Open Variation Database (LOVD)
SUMO4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUMO4 Gene

Disorders for SUMO4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SUMO4 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
type 1 diabetes mellitus 5
  • t1d5
diabetes mellitus
  • diabetes
type 1 diabetes mellitus
  • t1d
type 1 diabetes mellitus 12
  • t1d12
behcet syndrome
  • behcet disease; bd
- elite association - COSMIC cancer census association via MalaCards
Search SUMO4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SUMO4_HUMAN
  • Diabetes mellitus, insulin-dependent, 5 (IDDM5) [MIM:600320]: 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. {ECO:0000269 PubMed:15678134, ECO:0000269 PubMed:15678135, ECO:0000269 PubMed:15678137}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Additional Disease Information for SUMO4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SUMO4: view

No data available for Genatlas for SUMO4 Gene

Publications for SUMO4 Gene

  1. A M55V polymorphism in a novel SUMO gene (SUMO-4) differentially activates heat shock transcription factors and is associated with susceptibility to type I diabetes mellitus. (PMID: 15123604) Bohren KM … Owerbach D (The Journal of biological chemistry 2004) 2 3 4 22 40 72
  2. A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes. (PMID: 15247916) Guo D … Wang CY (Nature genetics 2004) 3 4 22 40 72
  3. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. (PMID: 15678135) Qu H … Polychronakos C (Nature genetics 2005) 3 4 40 72
  4. A M55V polymorphism in the SUMO4 gene is associated with a reduced prevalence of diabetic retinopathy in patients with Type 1 diabetes. (PMID: 17926234) Rudofsky G … Hamann A (Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2008) 3 22 40
  5. No association of SUMO4 M55V with autoimmune diabetes in Asian-Indian patients. (PMID: 17373940) Sedimbi SK … Sanjeevi CB (International journal of immunogenetics 2007) 3 22 40

Products for SUMO4 Gene

Sources for SUMO4 Gene