SUMO1 small ubiquitin like modifier 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SUMO1provided by HGNC
Official Full Name: small ubiquitin like modifier 1provided by HGNC
Primary source: HGNC:HGNC:12502
See related: Ensembl:ENSG00000116030 MIM:601912; AllianceGenome:HGNC:12502
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: DAP1; GMP1; PIC1; SMT3; UBL1; OFC10; SENP2; SMT3C; SMT3H3
Summary: This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 51.9), adrenal (RPKM 51.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (202206171..202238597, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (202687204..202719634, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (203070894..203103320, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SENP1 inhibits ferroptosis and promotes head and neck squamous cell carcinoma by regulating ACSL4 protein stability via SUMO1.
Title: SENP1 inhibits ferroptosis and promotes head and neck squamous cell carcinoma by regulating ACSL4 protein stability via SUMO1.
Interplay between SUMO1-related SUMOylation and phosphorylation of p65 promotes hepatocellular carcinoma progression.
Title: Interplay between SUMO1-related SUMOylation and phosphorylation of p65 promotes hepatocellular carcinoma progression.
SUMO1-regulated DBC1 promotes p53-dependent stress-induced apoptosis of lens epithelial cells.
Title: SUMO1-regulated DBC1 promotes p53-dependent stress-induced apoptosis of lens epithelial cells.
SUMO1-modified DNA methyltransferase 1 induces DNA hypermethylation of VWC2 in the development of colorectal cancer.
Title: SUMO1-modified DNA methyltransferase 1 induces DNA hypermethylation of VWC2 in the development of colorectal cancer.
Insights into the Allosteric Effect of SENP1 Q597A Mutation on the Hydrolytic Reaction of SUMO1 via an Integrated Computational Study.
Title: Insights into the Allosteric Effect of SENP1 Q597A Mutation on the Hydrolytic Reaction of SUMO1 via an Integrated Computational Study.
MicroRNA-133b Inhibits nTumor Cell Proliferation, Migration and Invasion by Targeting SUMO1 in Endometrial Carcinoma.
Title: MicroRNA-133b Inhibits nTumor Cell Proliferation, Migration and Invasion by Targeting SUMO1 in Endometrial Carcinoma.
Deletion of SUMO1 attenuates behavioral and anatomical deficits by regulating autophagic activities in Huntington disease.
Title: Deletion of SUMO1 attenuates behavioral and anatomical deficits by regulating autophagic activities in Huntington disease.
SUMO paralogue-specific functions revealed through systematic analysis of human knockout cell lines and gene expression data.
Title: SUMO paralogue-specific functions revealed through systematic analysis of human knockout cell lines and gene expression data.
In-frame fusion of SUMO1 enhances betaarrestin2's association with activated GPCRs as well as with nuclear pore complexes.
Title: In-frame fusion of SUMO1 enhances βarrestin2's association with activated GPCRs as well as with nuclear pore complexes.
An ""up"" oriented methionine-aromatic structural motif in SUMO is critical for its stability and activity.
Title: An "up" oriented methionine-aromatic structural motif in SUMO is critical for its stability and activity.

Submit: New GeneRIF Correction See all GeneRIFs (250)

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
Orofacial cleft 10 MedGen: C1866070 OMIM: 613705 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Disrupting the function of KIF4 leads Gag transient accumulation in discrete, perinuclear, nonendocytic clusters that co-localize with endogenous KIF4, Ubc9, and SUMO	PubMed
integrase	gag-pol	SUMOylation of HIV-1 IN at positions K46, K136, and K244 by SUMO involves HIV-1 infectivity	PubMed
	gag-pol	HIV-1 IN interacts with SUMO1/SUMO2 and Ubc9 in cells. Upregulations of SUMO1/SUMO2 and Ubc9 inhibit HIV-1 integration, while downregulations of SUMO1/SUMO2 and Ubc9 increase HIV-1 integration	PubMed
p6	gag	HIV-1 p6 interacts with SUMO-1 through a covalent attachment of SUMO-1 to lysine 27 of p6, resulting in the incorporation of SUMO-1 into HIV-1 virions	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82097 (e-PCR)
- UniSTS:104275

RH26240 (e-PCR)
- UniSTS:87674

GDB:451559 (e-PCR)
- UniSTS:157310

A007E47 (e-PCR)
- UniSTS:25044

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tag activity	IBA Inferred from Biological aspect of Ancestor more info
enables small protein activating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-specific protease binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in PML body organization	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cadmium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to heat	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 binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of action potential	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of transcription by transcription factor localization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to nuclear pore	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	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 protein sumoylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle cell contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization	TAS Traceable Author Statement more info	PubMed
involved_in roof of mouth development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
colocalizes_with PML body	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with PML body	IDA Inferred from Direct Assay more info	PubMed
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in XY body	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info
part_of nuclear pore	TAS Traceable Author Statement more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: small ubiquitin-related modifier 1

Names: GAP modifying protein 1; SMT3 homolog 3; SMT3 suppressor of mif two 3 homolog 1; sentrin; ubiquitin-homology domain protein PIC1; ubiquitin-like protein SMT3C; ubiquitin-like protein UBL1

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.

Genomic

NG_011679.1 RefSeqGene

Range

5003..37418

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001005781.2 → NP_001005781.1 small ubiquitin-related modifier 1 isoform a precursor

See identical proteins and their annotated locations for NP_001005781.1

Status: REVIEWED

Source sequence(s)

AC079354

Consensus CDS

CCDS2352.1

UniProtKB/Swiss-Prot

A8MUS8, B2R4I5, P55856, P63165, Q6FGG0, Q6NZ62, Q93068

UniProtKB/TrEMBL

A0A5P8PBC0

Related

ENSP00000376076.1, ENST00000392245.5

Conserved Domains (1) summary

cd16114
Location:21 → 96

Ubl_SUMO1; ubiquitin-like (Ubl) domain found in small ubiquitin-related modifier 1 (SUMO-1) and similar proteins
NM_001005782.2 → NP_001005782.1 small ubiquitin-related modifier 1 isoform b

See identical proteins and their annotated locations for NP_001005782.1

Status: REVIEWED

Source sequence(s)

AC079354

Consensus CDS

CCDS46493.1

UniProtKB/TrEMBL

B8ZZ67

Related

ENSP00000376075.3, ENST00000392244.7

Conserved Domains (1) summary

cd16114
Location:4 → 71

Ubl_SUMO1; ubiquitin-like (Ubl) domain found in small ubiquitin-related modifier 1 (SUMO-1) and similar proteins
NM_001371392.1 → NP_001358321.1 small ubiquitin-related modifier 1 isoform d

Status: REVIEWED

Source sequence(s)

AC079354

UniProtKB/TrEMBL

A0A5P8PBC0

Conserved Domains (1) summary

cd16114
Location:20 → 95

Ubl_SUMO1; ubiquitin-like (Ubl) domain found in small ubiquitin-related modifier 1 (SUMO-1) and similar proteins
NM_001371393.1 → NP_001358322.1 small ubiquitin-related modifier 1 isoform e

Status: REVIEWED

Source sequence(s)

AC079354

Consensus CDS

CCDS92928.1

UniProtKB/TrEMBL

B9A032

Related

ENSP00000386296.1, ENST00000409712.5

Conserved Domains (1) summary

cl28922
Location:21 → 72

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
NM_001371394.1 → NP_001358323.1 small ubiquitin-related modifier 1 isoform c

Status: REVIEWED

Source sequence(s)

AC079354

Consensus CDS

CCDS92929.1

UniProtKB/TrEMBL

B8ZZN6

Related

ENSP00000387204.1, ENST00000409368.5

Conserved Domains (1) summary

cd16114
Location:21 → 141

Ubl_SUMO1; ubiquitin-like (Ubl) domain found in small ubiquitin-related modifier 1 (SUMO-1) and similar proteins
NM_003352.8 → NP_003343.1 small ubiquitin-related modifier 1 isoform a precursor

See identical proteins and their annotated locations for NP_003343.1

Status: REVIEWED

Source sequence(s)

AC079354

Consensus CDS

CCDS2352.1

UniProtKB/Swiss-Prot

A8MUS8, B2R4I5, P55856, P63165, Q6FGG0, Q6NZ62, Q93068

UniProtKB/TrEMBL

A0A5P8PBC0

Related

ENSP00000376077.2, ENST00000392246.7

Conserved Domains (1) summary

cd16114
Location:21 → 96

Ubl_SUMO1; ubiquitin-like (Ubl) domain found in small ubiquitin-related modifier 1 (SUMO-1) and similar proteins