Literature summary for 3.5.1.92 extracted from

Wang, Y.J.; Tayo, B.O.; Bandyopadhyay, A.; Wang, H.; Feng, T.; Franceschini, N.; Tang, H.; Gao, J.; Sung, Y.J.; Sung, Y.J.; Elston, R.C.; Williams, S.M.; Cooper, R.S.; Mu, T.W.; Zhu, X.
The association of the vanin-1 N131S variant with blood pressure is mediated by endoplasmic reticulum-associated degradation and loss of function (2014), PLoS Genet., 10, e1004641.

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Cloned(Commentary)

Cloned (Comment)	Organism
stable expression of vanin-1 in HEK-293 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
N131S	naturally occuring mutation in both African Americans and Mexican Americans, the mutation is associated with significantly lower plasma vanin-1 protein levels, the N131S vanin-1 is subjected to rapid endoplasmic reticulum-associated degradation as the underlying mechanism for its reduction, N131S vanin-1 is degraded significantly faster than wild type vanin-1 greatly reducing vanin-1 present on the plasma membrane and pantetheinase activity, overview	Homo sapiens
T26I	naturally occuring mutation, similar vanin-1 protein levels are detected in cells expressing T26I vanin-1 compared to cells expressing wild-type vanin-1	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
membrane	a glycosylphosphatidylinositol-anchored membrane pantetheinase	Homo sapiens	16020	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O95497	-	-

Posttranslational Modification

Posttranslational Modification	Comment	Organism
lipoprotein	a glycosylphosphatidylinositol (GPI)-anchored membrane pantetheinase	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood plasma	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
pantetheinase	-	Homo sapiens
vanin-1	-	Homo sapiens

Expression

Organism	Comment	Expression
Homo sapiens	atenolol and diltiazem, two current drugs for treating hypertension, reduce the vanin-1 protein level	down

General Information

General Information	Comment	Organism
malfunction	enzyme vanin-1 mutation N131S is associated with high blood pressure or hypertension via vanin-1 misfolding and degradation as the underlying molecular mechanism	Homo sapiens

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Release 2023.1 (January 2023)