2. Gene
  3. SAE1 - SUMO1 activating enzyme subunit 1 Gene

SAE1 - SUMO1 activating enzyme subunit 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AOS1; SUA1; UBLE1A; HSPC140

Gene ID: 10055 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

ThiF: ThiF family (35 - 165)

  • 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 Reference
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) ≥95%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12412 SAE1 Human Pre-designed siRNA Set A Pre-designed Sets / 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