SAE1 SUMO1 activating enzyme subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SAE1provided by HGNC
Official Full Name: SUMO1 activating enzyme subunit 1provided by HGNC
Primary source: HGNC:HGNC:30660
See related: Ensembl:ENSG00000142230 MIM:613294; AllianceGenome:HGNC:30660
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AOS1; SUA1; UBLE1A; HSPC140
Summary: Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
Expression: Ubiquitous expression in testis (RPKM 24.6), thyroid (RPKM 21.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (47130835..47210636)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (49956146..50035948)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (47634092..47713893)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

ROS-mediated up-regulation of SAE1 by Helicobacter pylori promotes human gastric tumor genesis and progression.
Title: ROS-mediated up-regulation of SAE1 by Helicobacter pylori promotes human gastric tumor genesis and progression.
Circ-RAPGEF5 promotes intrahepatic cholangiocarcinoma progression by stabilizing SAE1 to facilitate SUMOylation.
Title: Circ-RAPGEF5 promotes intrahepatic cholangiocarcinoma progression by stabilizing SAE1 to facilitate SUMOylation.
Increased Small Ubiquitin-like Modifier-Activating Enzyme SAE1 Promotes Hepatocellular Carcinoma by Enhancing mTOR SUMOylation.
Title: Increased Small Ubiquitin-like Modifier-Activating Enzyme SAE1 Promotes Hepatocellular Carcinoma by Enhancing mTOR SUMOylation.
An engineered transcriptional reporter of protein localization identifies regulators of mitochondrial and ER membrane protein trafficking in high-throughput CRISPRi screens.
Title: An engineered transcriptional reporter of protein localization identifies regulators of mitochondrial and ER membrane protein trafficking in high-throughput CRISPRi screens.
SUMO-Activating Enzyme Subunit 1 (SAE1) Is a Promising Diagnostic Cancer Metabolism Biomarker of Hepatocellular Carcinoma.
Title: SUMO-Activating Enzyme Subunit 1 (SAE1) Is a Promising Diagnostic Cancer Metabolism Biomarker of Hepatocellular Carcinoma.
Increased SUMO-activating enzyme SAE1/UBA2 promotes glycolysis and pathogenic behavior of rheumatoid fibroblast-like synoviocytes.
Title: Increased SUMO-activating enzyme SAE1/UBA2 promotes glycolysis and pathogenic behavior of rheumatoid fibroblast-like synoviocytes.
SUMOylation of the transcription factor ZFHX3 at Lys-2806 requires SAE1, UBC9, and PIAS2 and enhances its stability and function in cell proliferation.
Title: SUMOylation of the transcription factor ZFHX3 at Lys-2806 requires SAE1, UBC9, and PIAS2 and enhances its stability and function in cell proliferation.
SAE1 promotes human glioma progression through activating AKT SUMOylation-mediated signaling
Title: SAE1 promotes human glioma progression through activating AKT SUMOylation-mediated signaling pathways.
the expression of SENP8, SAE1, PIAS1, PIAS2 and ZMIZ1 is deregulated in the majority of PTC tissues, likely contributing to the PTC phenotype.
Title: PAPILLARY THYROID CANCER IS CHARACTERIZED BY ALTERED EXPRESSION OF GENES INVOLVED IN THE SUMOYLATION PROCESS.
as it has been shown by flow cytometry analysis, specific knockdown of SAE1 slowed down the cell population at G0/G1 phase and induced apoptosis of RKO cells.
Title: [Lentivirus-mediated siRNA targeting sae1 induces cell cycle arrest and apop- tosis in colon cancer cell RKO].

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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

RH94318 (e-PCR)
- UniSTS:85262

WI-22443 (e-PCR)
- UniSTS:824

RH103429 (e-PCR)
- UniSTS:97754

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to SUMO activating enzyme activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme activator activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables small protein activating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin activating enzyme activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of protein sumoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein targeting to mitochondrion	HMP 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	IEA Inferred from Electronic Annotation more info
involved_in protein sumoylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of SUMO activating enzyme complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SUMO activating enzyme complex	IDA Inferred from Direct Assay more info	PubMed
part_of SUMO activating enzyme complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor 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

General protein information

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Preferred Names: SUMO-activating enzyme subunit 1

Names: SUMO-1 activating enzyme E1 N subunit; SUMO-1 activating enzyme subunit 1; activator of SUMO1; sentrin/SUMO-activating protein AOS1; ubiquitin-like 1-activating enzyme E1A; ubiquitin-like protein SUMO-1 activating enzyme

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.

mRNA and Protein(s)

NM_001145713.2 → NP_001139185.1 SUMO-activating enzyme subunit 1 isoform b

See identical proteins and their annotated locations for NP_001139185.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two alternate exons, compared to variant 1, which causes a frameshift. The resulting protein (isoform b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AI339364, AK021978, CN386158, DC297573

Consensus CDS

CCDS54285.1

UniProtKB/TrEMBL

B3KNJ4

Related

ENSP00000416557.2, ENST00000413379.7

Conserved Domains (2) summary

cd01492
Location:16 → 169

Aos1_SUMO; Ubiquitin activating enzyme (E1) subunit Aos1. Aos1 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...

pfam00899
Location:19 → 167

ThiF; ThiF family
NM_001145714.2 → NP_001139186.1 SUMO-activating enzyme subunit 1 isoform c

See identical proteins and their annotated locations for NP_001139186.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon, compared to variant 1, which causes a frameshift. The resulting protein (isoform b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AC008532, AC008755, AI339364, DA047601

Consensus CDS

CCDS54284.1

UniProtKB/TrEMBL

B3KNJ4

Related

ENSP00000440818.1, ENST00000392776.3

Conserved Domains (1) summary

cd01492
Location:16 → 169

Aos1_SUMO; Ubiquitin activating enzyme (E1) subunit Aos1. Aos1 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
NM_005500.3 → NP_005491.1 SUMO-activating enzyme subunit 1 isoform a

See identical proteins and their annotated locations for NP_005491.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AI339364, BC018271, DC297573

Consensus CDS

CCDS12696.1

UniProtKB/Swiss-Prot

B2RDP5, B3KMQ2, F5GXX7, G3XAK6, O95717, Q9P020, Q9UBE0

Related

ENSP00000270225.6, ENST00000270225.12

Conserved Domains (1) summary

cd01492
Location:16 → 341

Aos1_SUMO; Ubiquitin activating enzyme (E1) subunit Aos1. Aos1 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...

RNA

NR_027280.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC008755, AI339364, AK090645, DA086973, DC312737

Related

ENST00000596995.1