SAE1 - SUMO1 activating enzyme subunit 1 Gene

Also Known as AOS1; SUA1; UBLE1A; HSPC140

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10055

About SAE1

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:47,130,835-47,210,636 (from NCBI)

This gene has 14 transcripts (splice variants), 212 orthologues and 9 paralogues. Ubiquitous expression in testis (RPKM 24.6), thyroid (RPKM 21.1) and 25 other tissues.

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]

SAE1 Products (3)

mRNA	Protein	Name
NM_001145713.2	NP_001139185.1	SUMO-activating enzyme subunit 1 isoform b
NM_001145714.2	NP_001139186.1	SUMO-activating enzyme subunit 1 isoform c
NM_005500.3	NP_005491.1	SUMO-activating enzyme subunit 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP-dependent protein binding	IDA IDA: Inferred from direct assay	10187858	GOA
contributes to SUMO activating enzyme activity	IDA IDA: Inferred from direct assay	10187858	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10187858	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	20164921	GOA
enables small protein activating enzyme binding	IPI IPI: Inferred from physical interaction	15660128	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of protein sumoylation	IDA IDA: Inferred from direct assay	10187858	GOA
involved in protein sumoylation	IDA IDA: Inferred from direct assay	15660128	GOA
involved in protein sumoylation	IMP IMP: Inferred from mutant phenotype	21968017	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SUMO activating enzyme complex	IDA IDA: Inferred from direct assay	10187858	GOA
part of SUMO activating enzyme complex	IPI IPI: Inferred from physical interaction	15660128	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SAE1 Protein Structure

ThiF

0
100
200
300
346 a.a.

Protein Preferred Names	Protein Names
SUMO-activating enzyme subunit 1	SUMO-1 activating enzyme E1 N subunit

SAE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SAE1	Q9UBE0	NFYC	Homo sapiens	Q13952-2	Y2H Prey Pooling	32296183
Intra	SAE1	Q9UBE0	NFYC	Homo sapiens	Q13952-2	Y2H Array	32296183
Intra	SAE1	Q9UBE0	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	SAE1	Q9UBE0	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	SAE1	Q9UBE0	PAX8	Homo sapiens	Q06710	Y2H Prey Pooling	32296183
Intra	SAE1	Q9UBE0	PAX8	Homo sapiens	Q06710	Y2H Array	32296183
Intra	SAE1	Q9UBE0	PAX5	Homo sapiens	Q02548	Y2H Prey Pooling	32296183
Intra	SAE1	Q9UBE0	PAX5	Homo sapiens	Q02548	Y2H Array	32296183
Intra	SAE1	Q9UBE0	UBA2	Homo sapiens	Q9UBT2	GMS	20164921
Intra	SAE1	Q9UBE0	UBA2	Homo sapiens	Q9UBT2	X-Ray Diffraction	15660128
Intra	SAE1	Q9UBE0	UBA2	Homo sapiens	Q9UBT2	X-Ray Diffraction	20164921
Intra	SAE1	Q9UBE0	UBA2	Homo sapiens	Q9UBT2	Y2H Array	31515488
Intra	SAE1	Q9UBE0	UBA2	Homo sapiens	Q9UBT2	Sumoylase Assay	26226295
Intra	SAE1	Q9UBE0	UBA2	Homo sapiens	Q9UBT2	Anti Tag CoIP	26496610
Intra	SAE1	Q9UBE0	UBA2	Homo sapiens	Q9UBT2	Anti Bait CoIP	17353931
Intra	SAE1	Q9UBE0	UBA2	Homo sapiens	Q9UBT2	Anti Tag CoIP	35271311
Intra	SAE1	Q9UBE0	PAX6	Homo sapiens	P26367	Y2H Prey Pooling	32296183
Intra	SAE1	Q9UBE0	PAX6	Homo sapiens	P26367	Y2H Array	32296183
Intra	SAE1	Q9UBE0	CRX	Homo sapiens	O43186	Y2H Array	32296183
Intra	SAE1	Q9UBE0	CRX	Homo sapiens	O43186	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SAE1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71643	SAE1 Protein, Human (GST)	Q9UBE0 (M1-K346)	≥ 90%, as determined by reducing SDS-PAGE.

SAE1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82102	SAE1 Antibody (YA1847)	WB, ICC/IF, IP, FC	Human, Rat

Related Diseases

Diseases	Alias
Ogden Syndrome	OGDNS N-Terminal Acetyltransferase Deficiency NATD N-Alpha-Acetyltransferase X-Linked Malformation And Infantile Lethality Syndrome Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome
Adult Dermatomyositis	Adult Onset Dermatomyositis Adult Type Dermatomyositis
Myositis	Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myositis Iim Imm Idiopathic Inflammatory Myopathies Myopathy, Familial Idiopathic Inflammatory Inflammatory Disorder Of Muscle Idiopathic Inflammatory Myopathy, Familial Inflammatory Myopathy, Idiopathic Myopathies Idiopathic Inflammatory Familial Idiopathic Inflammatory Myopathy
Laryngeal Small Cell Carcinoma	Small Cell Carcinoma Of Larynx
Antisynthetase Syndrome	As Syndrome Anti-Jo1 Syndrome
Childhood Type Dermatomyositis	Juvenile Dermatomyositis Juvenile Dm Childhood Dermatomyositis Amyopathic Dermatomyositis Adm Dermatomyositis Sine Myositis Dermatomyositis, Childhood Type

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12412	SAE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18047	Sae1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24521	Sae1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SAE1	MGD	MGI:1929264
Bos taurus	SAE1	VGNC	VGNC:34261
Felis catus	SAE1	VGNC	VGNC:64853
Macaca mulatta	SAE1	VGNC	VGNC:103860
Canis familiaris	SAE1	VGNC	VGNC:45843
Rattus norvegicus	SAE1	RGD	RGD:1306098
Others	SAE1	NCBI