Gene: SAE1

Alternate names for this Gene: AOS1|HSPC140|SUA1|UBLE1A

Gene 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].

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: SUMO1 activating enzyme subunit 1

Type of Gene: protein-coding

rs3745621 in SAE1 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs307896 in SAE1 gene and Multiple Sclerosis PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

PMID 26920376 2016 Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors.

rs307896 in SAE1 gene and Triglycerides measurement PMID 26920376 2016 Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors.

rs309190 in SAE1 gene and White Blood Cell Count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.