SAE1 (SUMO1 activating enzyme subunit 1)

2012-02-01 Affiliation

Identity

HGNC

SAE1

LOCATION

19q13.32

LOCUSID

10055

ALIAS

AOS1,HSPC140,SUA1,UBLE1A

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10055
MIM: 613294
HGNC: 30660
Ensembl: ENSG00000142230

Variants:

dbSNP: 10055
ClinVar: 10055
TCGA: ENSG00000142230
COSMIC: SAE1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000142230	ENST00000270225	Q9UBE0
ENSG00000142230	ENST00000270225	A0A024R0R4
ENSG00000142230	ENST00000392776	Q9UBE0
ENSG00000142230	ENST00000413379	Q9UBE0
ENSG00000142230	ENST00000414294	B3KNJ4
ENSG00000142230	ENST00000594144	M0R054
ENSG00000142230	ENST00000594526	M0R286
ENSG00000142230	ENST00000596995	M0R375
ENSG00000142230	ENST00000597808	M0QYM8
ENSG00000142230	ENST00000598840	M0QZS6
ENSG00000142230	ENST00000600706	M0QX65
ENSG00000142230	ENST00000600753	M0QYP2
ENSG00000142230	ENST00000659110	A0A590UKA0
ENSG00000142230	ENST00000660039	A0A590UK93
ENSG00000142230	ENST00000664120	A0A590UKC5

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Ubiquitin mediated proteolysis	KEGG	ko04120
Ubiquitin mediated proteolysis	KEGG	hsa04120
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
SUMOylation	REACTOME	R-HSA-2990846
Processing and activation of SUMO	REACTOME	R-HSA-3215018
SUMO is conjugated to E1 (UBA2:SAE1)	REACTOME	R-HSA-3065676
SUMO is transferred from E1 to E2 (UBE2I, UBC9)	REACTOME	R-HSA-3065678

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
22157079	2012	A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis.	167
15660128	2005	Structures of the SUMO E1 provide mechanistic insights into SUMO activation and E2 recruitment to E1.	103
16421094	2006	SUMO-1 controls the protein stability and the biological function of phosducin.	30
22884621	2012	Anti-SAE antibodies in autoimmune myositis: identification by unlabelled protein immunoprecipitation in an Italian patient cohort.	16
22403398	2012	Small ubiquitin-like modifier (SUMO) modification of E1 Cys domain inhibits E1 Cys domain enzymatic activity.	14
26403403	2015	PAPILLARY THYROID CANCER IS CHARACTERIZED BY ALTERED EXPRESSION OF GENES INVOLVED IN THE SUMOYLATION PROCESS.	4
21209321	2011	Importin α/β mediates nuclear import of individual SUMO E1 subunits and of the holo-enzyme.	2
31345225	2019	SAE1 promotes human glioma progression through activating AKT SUMOylation-mediated signaling pathways.	2
25842831	2014	[Lentivirus-mediated siRNA targeting sae1 induces cell cycle arrest and apop- tosis in colon cancer cell RKO].	1

Citation

Dessen P

SAE1 (SUMO1 activating enzyme subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-02-01

Online version: http://atlasgeneticsoncology.org/gene/52591/sae1