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  2. SAE1 - SUMO1 activating enzyme subunit 1 Gene

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

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

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

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