Literature summary for 3.1.1.53 extracted from

Yamamoto, M.; Iguchi, G.; Bando, H.; Fukuoka, H.; Suda, K.; Takahashi, M.; Nishizawa, H.; Matsumoto, R.; Tojo, K.; Mokubo, A.; Ogata, T.; Takahashi, Y.
A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome (2014), Endocr. J., 61, 641-644.

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Protein Variants

Protein Variants	Comment	Organism
A467V	naturally occuring mutation from patients with anti-PIT-1 antibody syndrome. The mutation occurs in a heterozygous state in all the patients with anti-PIT-1 antibody syndrome, and in 6% of control subjects, the prevalence is significantly increased in the patients	Homo sapiens
K71R	naturally occuring mutation from patients with anti-PIT-1 antibody syndrome. The mutation occurs in a heterozygous state in 2 of 3 patients with anti-PIT-1 antibody syndrome, and in 11% of control subjects, the prevalence is significantly increased in the patients	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9HAT2	-	-

Synonyms

Synonyms	Comment	Organism
SIAE	-	Homo sapiens
sialic acid acetylesterase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	defective variants of the enzyme are associated with an increased risk of various autoimmune diseases such as type 1 diabetes. Enzyme mutation A467V is involved in anti-PIT-1 antibody syndrome, phenotypes, overview	Homo sapiens
physiological function	sialic acid acetylesterase plays a crucial role in regulating the threshold of autoantibody production of B-cells	Homo sapiens

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Release 2023.1 (January 2023)