SUMO4 small ubiquitin like modifier 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SUMO4provided by HGNC
Official Full Name: small ubiquitin like modifier 4provided by HGNC
Primary source: HGNC:HGNC:21181
See related: Ensembl:ENSG00000177688 MIM:608829; AllianceGenome:HGNC:21181
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IDDM5; SMT3H4; SUMO-4; dJ281H8.4
Summary: 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]
Orthologs: all
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Genomic context

Location:: 6q25.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (149400262..149401278)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (150600139..150601155)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (149721398..149722414)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The association of five polymorphisms with diabetic retinopathy in a Chinese population.
Title: The association of five polymorphisms with diabetic retinopathy in a Chinese population.
A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics.
Title: A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics.
Small ubiquitin-related modifier (SUMO) 3 and SUMO4 gene polymorphisms in Parkinson's disease.
Title: Small ubiquitin-related modifier (SUMO) 3 and SUMO4 gene polymorphisms in Parkinson's disease.
Donor SUMO4 rs237025 genetic variant was associated with higher tacrolimus C/D ratios in the early period after liver transplantation, which might be related to the down-regulation of CYP3A5 enzyme through the NF-kB signalling pathway.
Title: Association of donor small ubiquitin-like modifier 4 rs237025 genetic variant with tacrolimus elimination in the early period after liver transplantation.
meta-analysis demonstrated that the G allele of the SUMO4 M55V polymorphism could be a susceptible risk locus to type 2 diabetes mellitus, mainly in the Chinese population, while the association in other ethnic population needs to be further validated
Title: Association between the SUMO4 M55V Polymorphism and Susceptibility to Type 2 Diabetes Mellitus: A Meta-analysis.
Both donor and recipient SUMO4 rs237025 polymorphisms contribute to the development of new-onset diabetes mellitus after liver transplantation.
Title: Association of donor and recipient SUMO4 rs237025 genetic variant with new-onset diabetes mellitus after liver transplantation in a Chinese population.
Results show that SUMO-4 is expressed in normal placental development. SUMO-4 expression was increased in pre-eclamptic placentas and in models of oxidative stress and hypoxic injury suggesting that SUMO-4 hyper-SUMOylation may be a potential post-translational mechanism in the stressed pre-eclamptic placenta.
Title: SUMO-4: A novel functional candidate in the human placental protein SUMOylation machinery.
study suggests that SUMO4 c.163 G to A polymorphism is associated with the susceptibility to diabetic nephropathy in north Indian subjects with type 2 diabetes
Title: SUMO4 163 G>A variation is associated with kidney disease in Indian subjects with type 2 diabetes.
SUMO4 M55V polymorphism and type-2 diabetes were significantly associated with a possible SUMO4 region to type-2 diabetes susceptibility.
Title: Association of SUMO4 M55V and -94ins/del gene variants with type-2 diabetes.
No association between SUMO4 gene polymorphisms and acoronary artery disease with and without type 2 diabetes mellitus.
Title: [Association between SUMO4 polymorphisms and coronary artery disease with and without type 2 diabetes mellitus].

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Type 1 diabetes mellitus 5 MedGen: C1838260 OMIM: 600320 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

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See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S264 (e-PCR)
- UniSTS:13948

D6S441 (e-PCR)
- UniSTS:2469

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein tag activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein sumoylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein sumoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of SUMO ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: small ubiquitin-related modifier 4

Names: SMT3 suppressor of mif two 3 homolog 2; SMT3 suppressor of mif two 3 homolog 4; insulin-dependent diabetes mellitus 5; small ubiquitin-like modifier 4 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.