SAE1 - SUMO1 activating enzyme subunit 1 Gene

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

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

Recombinant SAE1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71643	SAE1 Protein, Human (GST)	Q9UBE0 (M1-K346)	≥95%

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12412	SAE1 Human Pre-designed siRNA Set A		/	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